American Journal of Human Genetics 1998 - Abstracts
| American Journal of Human Genetics 1998 | |||||
| Title | Subject | Authors | |||
|---|---|---|---|---|---|
| 6-n-propylthiouracil: a genetic marker for taste, with implications for food preference and dietary habits.(Genetics of Perception '98) | Biological sciences | ||||
| A Bedouin kindred with infantile nephronophthisis demonstrates linkage to chromosome 9 by homozygosity mapping.(Statistical Data Included) | Biological sciences | Val C. Sheffield, Rivka Carmi, Daniel Landau, Hana Shalev, Neena B. Haider | |||
| Absence of linkage of phonological coding dyslexia to chromosome 6p23-p21.3 in a large family data set.(Statistical Data Included) | Biological sciences | L.L. Field, B.J. Kaplan | |||
| Absolute pitch: an approach for identification of genetic and nongenetic components. | Biological sciences | Nelson B. Freimer, Siamak Baharloo, Paul A. Johnston, Susan K. Service, Jane Gitschier | |||
| A chromosomal deletion map of human malformations. | Biological sciences | Carole Brewer, Susan Holloway, Paul Zawalnyski, Albert Schinzel, David FitzPatrick | |||
| A clinical variant of neurofibromatosis type 1: familial spinal neurofibromatosis with a frameshift mutation in the NF1 (ital) gene. | Biological sciences | Xavier Estivill, Jordi Rosell, Eduard Serra, Conxi Lazaro, Elisabet Ars, Helena Kruyer, Antonia Gaona, Pilar Casquero, Victor Volpini | |||
| A common and recurrent 13-bp deletion in autoimmune regulator gene in British kindreds with autoimmune polyendocrinopathy type 1. | Biological sciences | David Carr, Rudolf W. Bilous, Nicholas J. Shaw, Gareth Williams, Anthony D. Toft, Pat Kendall-Taylor, Tim Cheetham, SImon H.S. Pearce, Helen Imrie, Bijayeswar Vaidya, Nicholas D. Barnes, Karim Meeran, Colin S. Smith | |||
| A common genetic mechanism determines plasma apolipoprotein B levels and dense LDL subfraction distribution in familial combined hyperlipidemia. | Biological sciences | Anton F.H. Stalenhoef, Suh-Hang Hank Juo, Sebastian J.H. Bredie, Lambertus A. Kiemeney, Pierre N.M. Demacker | |||
| A comparative study of sibship tests of linkage and/or association.(Statistical Data Included) | Biological sciences | B.S. Weir, N.L. Kaplan, S.A. Monks | |||
| A comprehensive screen for TWIST (ital) mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7-21.1.(Statistical Data Included) | Biological sciences | David Johnson, Lyndal Kearney, Andrew O.M. Wilkie, Stephen R.F. Twigg, Steven A. Wall, Pal R. Njolstad, Sharon W. Horsley, Dominique M. Moloney, Michael Oldridge, Sinead Walsh, Margaret Barrow, Jurgen Kunz, Geraldine J. Ashworth | |||
| Acromesomelic dysplasia Maroteaux type maps to human chromosome 9. | Biological sciences | Bernhard Zabel, Matthew L. Warman, Stefan Mundlos, Sarina G. Kant, Alexander Polinkovsky, Ralph T.W.M. Thomeer, Harmien M. Zonderland, Ling-yu Shih, Arie van Haeringen | |||
| A defect in the regional deposition of adipose tissue (partial lipodystrophy) is encoded by a gene at chromosome 1q. | Biological sciences | Richard C. Trembath, Andrew Johnson, Stephen N.J. Jackson, John Pinkney, Alex Bargiotta, Colin D. Veal, Trevor A. Howlett, Paul G. McNally, Roger Corral | |||
| Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles. | Biological sciences | Francisco X. Arredondo-Vega, Ines Santisteban, Michael S. Hershfield, Shannon Daniels, Stephan Toutain | |||
| A discordant sibship test for disequilibrium and linkage: no need for parental data.(Statistical Data Included) | Biological sciences | Nan M. Laird, Steve Norvath | |||
| A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype. | Biological sciences | Flemming Guttler, Jean Rey, Per Guldberg, Alberto Ponzone, Georg F. Hoffmann, Francoise Rey, Johannes Zschocke, Valentino Romano, Baudouin Francois, Luc Michiels, Kurt Ullrich, Peter Burgard, Hildgund Schmidt, Concetta Meli, Enrica Riva, Irma Dianzani | |||
| Age-dependent inclusion of sex chromosomes in lymphocyte micronuclei of man.(Statistical Data Included) | Biological sciences | J. Catalan, K. Autio, E. Kuosma, H. Norppa | |||
| A gene for autosomal dominant hypohidrotic ectodermal dysplasia (EDA3) maps to chromosome 2q11-q13. | Biological sciences | Richard A. Spritz, Lingling Ho, Marc S. Williams | |||
| A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: evidence for another limb-girdle muscular dystrophy locus. | Biological sciences | Kenneth Morgan, Cheryl R. Greenberg, Tracey Weiler, Teresa Zelinski, Edward Nylen, Gail Coghlan, M. Joyce Crumley, T. Mary Fujiwara, Klaus Wrogemann | |||
| A gene for familial juvenile polyposis maps to chromosome 18q21.1. | Biological sciences | Robert W. Summers, James R. Howe, Edwin M. Stone, John C. Ringold, Frank A. Mitros, D.Y. Nishimura | |||
| A gene for Meckel syndrome maps to chromosome 11q13. | Biological sciences | A. Munnich, V. Cormier-Daire, J. Roume, E. Genin, H.W. Ma, B. Mehaye, T. Attie, F. Razavi-Encha, C. Fallet-Bianco, A. Buenerd, F. Clerget-Darpoux, M. Le Merrer | |||
| A gene for the universal congenital alopecia maps to chromosome 8p21-22. | Biological sciences | Sven Cichon, Markus M. Nothen, Peter Propping, Marcella Rietschel, Roland Kruse, Ina R. Vogt, Susanne Hemmer, Michael Knapp, Tobias Holler, Muhammad Faiyaz ul Haque, Sayedul Haque, Mahmud Ahmad | |||
| A gene involved in XY sex reversal is located on chromosome 9, distal to marker D9S1779. | Biological sciences | Wendy L. Flejter, Jennifer Fergestad, Jerome Gorski, Tena Varvill, Settara Chandrasekharappa | |||
| A gene on chromosome 11q23 coding for a putative glucose-6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic. | Biological sciences | Allyn McConkie-Rosell, Yuan-Tsong Chen, Maria Veiga-da-Cunha, Emile Van Schaftingen, James V. Leonard, Miikka Vikkula, Philip J. Lee, Isabelle Gerin, Thierry de Barsy, Pascale de Lonlay, Carlo Dionisi-Vici, Christiane D. Fenske, Irene Maire, Susanne Schweitzer | |||
| A gene predisposing to familial thyroid tumors with cell oxyphilia maps to chromosome 19p13.2.(Statistical Data Included) | Biological sciences | Dominique Bonneau, Federico Canzian, Patrizia Amati, H. Ruben Harach, Jean-Louis Kraimps, Fabienne Lesueur, Jacques Barvier, Pierre Levillain, Giovanni Romeo | |||
| A global haplotype analysis of the myotonic dystrophy locus: implications for the evolution of modern humans and for the origin of myotonic dystrophy mutations. | Biological sciences | K.K. Kidd, A.J. Pakstis, J.R. Kidd, W.C. Speed, S.A. Tishkoff, A. Goldman, F> Calafell, A.S. Deinard, B. Bonne-Tamir, T. Jenkins | |||
| A high rate (10%-30%) of parental consanguinity in cytochrome-oxidase deficiency. | Biological sciences | Arnold Munnich, Valerie Cormier-Daire, Josue Feingold, Dominique Chretien, Agnes Rotig, Pascale de Lonlay, Jurgen-Christoph von Kleist-Retzow, Beatrice Parfait, Pierre Rustin | |||
| A human homologue of the Drosophila melanogaster diaphanous (ital) gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility. | Biological sciences | Andrea Ballabio, Silvia Bione, Cinzia Sala, Chiara Manzini, Giulia Arrigo, Orsetta Zuffardi, Sandro Banfi, Giuseppe Borsani, Philippe Jonveaux, Christophe Philippe, Maurizio Zuccotti, Daniela Toniolo | |||
| A Huntington disease-like neurodegenerative disorder maps to chromosome 20p.(Statistical Data Included) | Biological sciences | Michael R. Hayden, Maria Anvret, Fengqing Xiang, Elisabeth W. Almqvist, Mahbubul Huq, Anders Lundin, Lars Edstrom, Zhiping Zhang | |||
| A locus for autosomal recessive congenital microphthalmia maps to chromosome 14q32. | Biological sciences | Shomi S. Bhattacharya, Shagufta Khaliq, S. Qasim Mehdi, David A.R. Bessant, Abdul Hameed, Khalid Anwar, Annette M. Payne | |||
| A log-linear approach to case-parent-triad data: assessing effects of disease genes that act either directly or through maternal effects and that may be subject to parental imprinting. | Biological sciences | ||||
| A major locus for autosomal recessive retinitis pigmentosa on 6q, determined by homozygosity mapping of chromosomal regions that contain gamma-aminobutyric acid-receptor clusters. | Biological sciences | Guillermo Antinolo, Agustin Ruiz, Salud Borrego, Irene Araneta | |||
| Amerindian pyruvate carboxylase deficiency is associated with two distinct missense mutations. | Biological sciences | Cheryl R. Greenberg, Joe T.R. Clarke, Brian H. Robinson, Mary Anna Carbone, Nevi MacKay, Mingfu Ling, David E.C. Cole, Cheryl Douglas, Brigitte Rigat, Annette Feigenbaum, James C. Haworth, Lorne Seargeant | |||
| A missense mutation in the human connexin50 gene (GJA8 (ital)) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q. | Biological sciences | alan Shiels, Donna Mackay, Alexander Ionides, Vanita Berry, Anthony Moore, Shomi Chattacharya | |||
| A missense mutation in the zinc-finger domain of the human hairless gene underlies congenital atrichia in a family of Irish travellers. | Biological sciences | Wasim Ahmad, Andrei A. Panteleyev, Angela M. Christiano, John A. McGrath, Mahmud Ahmad, Alan D. Irvine, HaMut Lam, Colin Buckley, E. Ann Bingham | |||
| A model agreement for genetic research in socially identifiable populations. | Biological sciences | Morris W. Foster, Deborah Bernsten, Thomas H. Carter | |||
| A model for antagonistic pleiotropic gene action for mortality and advanced age. | Biological sciences | Bernard Godelle, Pierre-Henri Gouyon, Francois Schachter, Bruno Toupance | |||
| An alternative route for multistep tumorigenesis in a novel case of hereditary renal cell cancer and a t(2;3)(q35;q21) chromosome translocation. | Biological sciences | Danielle Bodmer, Marc J. Eleveld, Marjolijn J.L. Ligtenberg, Marian A.J. Weterman, Bert A.P. Janssen, Dominque F.C.M. Smeets, Peter E.J. de Wit, Anke van den Berg, Eva van den Berg, Marianne I. Koolen, Ad Geurts van Kessel | |||
| Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity.(xeroderma pigmentosum) | Biological sciences | Bernard C. Broughton, Alan R. Lehmann, Miria Stefanini, Elena Botta, Tiziana Nardo, Stefano Marinoni | |||
| Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele mutations. | Biological sciences | Darwin J. Prockop, Lieve Nuytinck, Anne De Paepe, Jarmo Korkko, Leena Ala-Kokko, James Earley | |||
| An analysis of linkage disequilibrium in the interleukin-1 gene cluster, using a novel grouping method for multiallelic markers. | Biological sciences | Angela Cox, Gordon W. Duff, Nicola J. Camp, Martin J.H. Nicklin, Francesco S. Di Giovine | |||
| An analysis of phenotypic variation in the familial cancer syndrome von Hippel-Lindau disease: evidence for modifier effects. | Biological sciences | Anthony T. Moore, Andrew R. Webster, Eamonn R. Maher, Frances M. Richards, Fiona E. MacRonald | |||
| An association, in adult Japanese, between the occurrence of rogue cells among cultured lymphocytes (JC virus) activity and the frequency of "simple" chromosomal damage among the lymphocytes of persons exhibiting these rogue cells. | Biological sciences | ||||
| An autosomal genomic scan for loci linked to type II diabetes mellitus and body-mass index in Pima Indians. | Biological sciences | David Timberlake, Tatiana Foroud, David J. Pettitt, William C. Knowler, Peter H. Bennett, John Blangero, Margaret G. Ehm, Robert L. Hanson, Michal Prochazka, D. Bruce Thompson, Sayuko Kobes, Leslie Baier, Daniel K. Burns, Laura Almasy, W. Timothy Garvey | |||
| A new Graves disease-susceptibility locus maps to chromosome 20q11.2.(Statistical Data Included) | Biological sciences | Terry F. Davies, David A. Greenberg, Yaron Tomer, Giuseppe Barbesino, Erlinda Concepcion | |||
| A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3. | Biological sciences | Andrea Ballabio, Giorgio Casari, Alessandro Filla, Sergio Cocozza, Roberto Marconi, Giuseppe De Michele, Maurizio De Fusco, Francesca Cavalcanti, Giampiero Volpe, Antonella Monticelli | |||
| A new twist: some patients with Saethre-Chotzen syndrome have a microdeletion syndrome.(Statistical Data Included) | Biological sciences | Elaine H. Zackai, Catherine A. Stolle | |||
| A novel Alu (ital)-like element rearranged in the dystrophin gene causes a splicing mutation in a family with X-linked dilated cardiomyopathy. | Biological sciences | Angelo Branzi, Nazzareno Galie, Francesco Muntoni, Alessandra Ferlini, Luciano Merlini, Caroline Sewry | |||
| A novel locus (RP24 (ital)) for X-linked retinitis pigmentosa maps to Xq26-27.(Statistical Data Included) | Biological sciences | Jurg Ott, Harald H.H. Goring, Samuel G. Jacobson, Anand Swaroop, David G. Birch, Linn Gieser, Ricardo Fujita, Dennis R. Hoffman, Artur V. Cideciyan | |||
| An unknown genetic defect increases venous thrombosis risk, through interaction with protein C deficiency. | Biological sciences | Sandra J. Hasstedt, Edwin G. Bovill, Peter W. Callas, George L. Long | |||
| A PCR amplification method reveals instability of the dodecamer repeat in progressive myoclonus epilepsy (EPM1) and no correlation between the size of the repeat and age at onset. | Biological sciences | Stylianos E. Antonarakis, Maria D. Lalioti, Armand Bottani, Djamel Grid, Hamish S. Scott, Catherine Buresi, Alain Malafosse, Pierre Genton, Reda Ouazzani, Amel M'Rabet, Sadi Ibrahim, Riadh Gouider, Charlotte Dravet, Jaieb Chkili | |||
| A point mutation in an intronic branch site results in aberrant splicing of COL5A1 and in Ehlers-Danlos syndrome type II in two British families. | Biological sciences | John R.W. Yates, Nigel P. Burrows, Alan C. Nicolls, Allan J. Richards, Craig Luccarini, J.Barrie Harrison, F. Michael Pope | |||
| A presenilin-1 truncating mutation is present in two cases with autopsy-confirmed early-onset Alzheimer disease. | Biological sciences | Christine Van Broeckhoven, Marc Cruts, David C. Rubinsztein, Gordon Wilcock, Carolyn Tysoe, JOanne Whittaker, John Xuereb, Nigel J. Cairns | |||
| A range of clinical phenotypes associated with mutations in CRX (ital), a photoreceptor transcription-factor gene.(Statistical Data Included) | Biological sciences | Roderick R. McInnes, John R. Heckenlively, Carol L. Freund, Melanie M. Sohocki, Lori S. Sullivan, Helen A. Mintz-Hittner, David Birch, Stephen P. Daiger | |||
| Are we ready to try to cure alkaptonuria?(Editorial) | Biological sciences | Bert N. La Du Jr. | |||
| Ascertainment corrections based on smaller family units. | Biological sciences | George Ebow Bonney | |||
| A second common mutation in the methylenetetrahydrofolate reducase gene: an additional risk factor for neural-tube defects? | Biological sciences | Tom K.A.B. Eskes, Henk J. Blom, Jan A.M. Smeitink, Nathalie M.J. van der Put, Fons Gabreels, Erik M.B. Stevens, Frans J.M. Trijbels, Lambert P. Van der Heuvel | |||
| A second locus for familial high myopia maps to chromosome 12q.(Statistical Data Included) | Biological sciences | Richard A. King, Larry D. Atwood, Douglas J. Wilkin, Terri L. Young, Shawn M. Ronan, Scott C. Wildenberg, Alison B. Alvear, William S. Oetting | |||
| A sibship test for linkage in the presence of association: the sib transmission/disequilibrium test. | Biological sciences | Richard S. Spielman, Warren J. Ewens | |||
| A simple method for analyzing microsatellite allele image patterns generated from DNA pools and its application to allelic association studies. | Biological sciences | Robert Plomin, Michael J. Owen, Peter McGuffin, Nigel Williams, Johanna Daniels, Peter Holmans, Dragana Turic | |||
| Assignment of the disease locus for lethal congenital contracture syndrome to a restricted region of chromosome 9q34, by genome scan using five affected individuals. | Biological sciences | Katri Vuopala, Riitta Herva, Paivi Makela-Bengs, Niklas Jarvinen, Anu Suomalainen, Jaakko Ignatius, Mari Silila, Aarno Palotie, Leena Pertonen | |||
| Assignment of the locus for a new lethal neonatal metabolic syndrome to 2q33-37.(Statistical Data Included) | Biological sciences | Leena Peltonen, Teppo Varilo, Aarno Palotie, Ilona Visapaa, Vineta Fellman, Kari O. Raivio | |||
| Assignment of the locus for congenital lactase deficiency to 2q21, in the vicinity of but separate from the lactase-phlorizin hydrolase gene. | Biological sciences | Leena Peltonen, Erkki Savilahti, Jorma Kokkonen, Irma Jarvela, Nabil Sabri Enattah, Teppo Varilo | |||
| Assignment of the locus for PLO-SL, a frontal-lobe dementia with bone cysts, to 19q13. | Biological sciences | Leena Peltonen, Jouko Lonnqvist, Iiris Hovatta, Lisbeth Tranebjaerg, Joseph D. Terwilliger, Petra Pekkarinen, Panu Hakola, Osmo Jarvi, Marjo Kestila, Ulla Lenkkeri, Rolf Adolfsson, Gosta Holmgren, Per-Olof Nylander | |||
| Assignment of the tibial muscular dystrophy locus to chromosome 2q31. | Biological sciences | Leena Peltonen, Hannu Somer, Leena Pulkkinen, Paivi Makela-Bengs, Henna Haravuori, Bjarne Udd, Juhani Partanen | |||
| Association and linkage of the dopamine transporter gene and attention-deficit hyperactivity disorder in children: heterogeneity owing to diagnostic subtype and severity.(Statistical Data Included) | Biological sciences | I.D. Waldman, D.C. Rowe, A. Abramowitz, S.T. Kozel, J.H. Mohr, S.L. Sherman, H.H. Cleveland, M.L. Sanders, J.M.C. Gard, C. Stever | |||
| Association of MSX1 and TGFB3 with nonsyndromic clefting in humans. | Biological sciences | Jeffrey C. Murray, Thomas Doetschman, Sandra Daack-Hirsch, Andrew C. Lidral, Junichiro Machida, Elena V. Semina, Paul A. Romitti, Ann M. Basart, Nancy J. Leysens, Lisa R. Johnson, Aurora Burds, Timothy Parnell, John L.R. Ruberstein | |||
| A susceptibility locus for bipolar affective disorder on chromosome 4q35. | Biological sciences | Jennifer A. Donald, Peter R. Schofield, Linda J. Adams, Philip B. Mitchell, Sharon L. Fielder, Amanda Rosso | |||
| A syndrome of severe mental retardation, spasticity, and tapetoretinal degeneration linked to chromosome 15q24. | Biological sciences | D.A. Campbell, R.F. Mueller, S.J. Mitchell, D.A. McHale, N.J. Lench, S.E. Bundey, A.F. Markham | |||
| Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations. | Biological sciences | Richard A. Gatti, Sergi Castellvi-Bel, Patrick Concannon, Milhan Telatar, Sharon Teraoka, Zhijun Wang, Helen H. Chun, Teresa Liang, Nitin Udar, Anne-Lise Borressen-Dale, Luciana Chessa, Eva Bernatowska-Matuszkiewicz, Oscar Porras, Mitsunori Watanabe, Anne Junker | |||
| Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families. | Biological sciences | Jean-Louis Mandel, Karim Ouahchi, Michel Koenig, Laurent Cavalier, Herbert Kayden, Stephao De Donato, Laurence Reutenauer | |||
| ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer. | Biological sciences | P. Robinson, T. Stankovic, A.M.J. Kidd, A. Sutcliffe, G.M. McGuire, P. Weber, T. Bedenham, A.R. Bradwell, D.F. Easton, G.G. Lennox, N. Haites, P.J. Byrd, A.M.R. Taylor | |||
| Attitudes of deaf adults toward genetic testing for hereditary deafness. | Biological sciences | R.F. Mueller, Anna Middleton, J. Hewison | |||
| Autosomal dominant nanophthalmos (NNO1 (ital)) with high hyperopia and angle-closure glaucoma maps to chromosome 11.(Statistical Data Included) | Biological sciences | M.I. Othman, S.A. Sullivan, G.L. Skuta, D.A. Cockrell, H.M. Stringham, C.A. Downs, A. Fornes, A. Mick, M. Boehnke, D. Vollrath, J.E. Richards | |||
| Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24. | Biological sciences | J.B.P. Stephenson, R. Singh, J.C. Mulley, H.A. Phillips, I.E. Scheffer, K.M. Crossland, K.P. Bhatia, D.R. Fish, C.D. Marsden, S.J.L. Howell, J. Tolmie, G. Plazzi, O. Eeg-Olofsson, I. Lopes-Cendes, E. Andermann, F. Andermann, S.F. Berkovic | |||
| Autosomal dominant orthostatic hypotensive disorder maps to chromosome 18q.(Statistical Data Included) | Biological sciences | Lindsay A. Farrer, David H.P. Streeten, Clinton T. Baldwin, Diane E. Handy, Anita L. De Stefano, Michael Burzstyn, Irene Gavras, Oscar Joost, Timothy Martel, Michael Nicolaou, Faina Schwartz, Haralambos Gavras | |||
| Autosomal genomic scan for loci linked to obesity and energy metabolism in Pima Indians. | Biological sciences | D.B. Thompson, R.A. Norman, P.A. Tataranni, R. Pratley, R.L. Hanson, M. Prochazka, L. Baier, M.G. Enm, H. Sakul, T. Foroud, W.T. Garvey, D. Burns, W.C. Knowler, P.H. Bennett, C. Bogardus, E. Ravussin | |||
| Autosomal recessive juvenile Parkinsonism maps to 6q25.2-q27 in four ethnic groups: detailed genetic mapping of the linked region. | Biological sciences | Yasuhiro Yamamura, Daniel E. Weeks, Laura Almasy, Alison C. Jones, Torbjoern G. Nygaard, Saeed Bohlega, Bulent Elibol, Jean Hubble, Shigeki Zuzuhara, Masao Uchida, Tsutomu Ranagi | |||
| Autozygosity mapping, to chromosome 11q25, of a rare autosomal recessive syndrome causing histiocytosis, joint contractures, and sensorineural deafness. | Biological sciences | David Heath, Duncan P. McHale, Robert F. Mueller, Leanne M. Moynihan, Sarah E. Bundey, E. Lynn Jones, Alexander F. Markham, Nicholas J. Lench | |||
| Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctata. | Biological sciences | Andrea Ballabio, Giancarlo Parenti, Germana Meroni, Generoso Andria, Aurora Daniele, Marilena D'Addio | |||
| Candidate-gene studies of the atherogenic lipoprotein phenotype: a sib-pair linkage analysis of DZ women twins. | Biological sciences | Ronald M. Krauss, Melissa A. Austin, Beth Newman, Karen L. Edwards, Philippa J. Talmud, Le-Ahn Luong, Lema Haddad, Ian N.M. Day, Steve E. Humphries | |||
| CAS (ital), the human homologue of the yeast chromosome-segregation gene CSE1 (ital), in proliferation, apoptosis, and cancer.(Human Genetics '98: Apoptosis) | Biological sciences | Ulrich Brinkmann | |||
| Causes, effects, and constraints in the genetics of human longevity.(Human Genetics '98) | Biological sciences | Francois Schachter | |||
| Characterization of ancestral and derived Y-chromosome haplotypes of New World Native populations.(Statistical Data Included) | Biological sciences | Claudio M. Bravi, Nestor O. Bianchi, Rene J. Herrera, Cecilia I. Catanesi, Graciela Bailliet, Veronica L. Martinez-Marignac, Lidia B. Vical-Rioja, Jorge S. Lopez-Camelo | |||
| Characterization of mutations in patients with multiple endocrine neoplasia type 1. | Biological sciences | J.H.D. Bassett, S.A. Forbes, A.A.J. Pannett, S.E. Lloyd, P.T. Christie, C. Wooding, B. Harding, G.M. Besser, C.R. Edwards, J.P. Monson, J. Sampson, J.A.H. Wass, M.H. Wheeler, R.V. Thakker | |||
| Childhood absence epilepsy with tonic-clonic seizures and electroencephalogram 3-4-Hz spike and multispike-slow wave complexes: linkage to chromosome 8q24. | Biological sciences | Marco T. Medina, Y. Huang, G.C.Y. Fong, Pravina U. Shah, Manyee N. Gee, Jose M. Serratosa, Ignacio Pascual Castroviejo, Sonia Khan, Sangeeta H. Ravat, Jayanthi Mani, H.Z. Zhao, Lucy J. Treiman, Gregorio Pineda, Antonio V. Delgado-Escueta | |||
| Chinese geneticists' view of ethical issues in genetic testing and screening: evidence for eugenics in China. | Biological sciences | Xin Mao | |||
| Chromosome 21 disomy in the spermatozoa of the fathers of children with trisomy 21, in a population with a high prevalence of Down syndrome: increased incidence in cases of paternal origin. | Biological sciences | ||||
| Chromosome 6-linked autosomal recessive early-onset Parkinsonism: linkage in European and Algerian families, extension of the clinical spectrum, and evidence of a small homozygous deletion in one family. | Biological sciences | Alexandra Durr, Vincenzo Bonifati, Giuseppe Meco, Yves Agid, Alexis Brice, Emmanuel Broussolle, Pierre Pollak, Marie Vidailhet, Roberto Marconi, Johann Tassin, Thomas de Broucker, Nacer Abbas, Giuseppe De Michele, Anne-Marie Bonnet, Michele De Mari, Soraya Medjbeur, Allessandro Filla | |||
| Classification of familial adenomatous polyposis: a diagnostic nightmare.(Editorial) | Biological sciences | Henry T. Lynch, Thomas C. Smyrk | |||
| Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations. | Biological sciences | H. Tanaka, H. Takano, S. Tsuji, A. Durr, A. Brice, G. Cancel, T. Ikeuchi, D. Lorenzetti, R. Mawad, G. Stevanin, O. Didierjean, M. Oyake, T. Shimohata, R. Sasaki, R. Koide, S. Igarashi, S. Hayashi, Y. Takiyama, M. Nishizawa, H. Zoghbi | |||
| Coiled bodies and gems: Janus or Gemini?(Nuclear Structure '98) | Biological sciences | A. Gregory Matera, Mark R. Frey | |||
| Commitment to X inactivation precedes the twinning event in monochorionic MZ twins. | Biological sciences | Martin Lesser, Robert Vlietinck, Peter K. Gregerson, Joanita Monteiro, Catherine Derom, Nina Kohn | |||
| Comparative genetics of resistance to viruses. | Biological sciences | David G. Brownstein | |||
| Complex segregation analyses: uses and limitations. | Biological sciences | Gail Pairitz Jarvik | |||
| Comprehensive human genetic maps: individual and sex-specfic variation in recombination. | Biological sciences | Val C. Sheffield, Jeffrey C. Murray, Raymond L. White, Karl W. Broman, James L. Weber | |||
| Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13. | Biological sciences | S.M. Wang, J. Zwaan, P.B. Mullaney, M.H. Jabak, A. Al-Awad, A.H. Beggs, E.C. Engle | |||
| CTNS (ital) mutations in an American-based population of cystinosis patients.(Statistical Data Included) | Biological sciences | William A. Gahl, David Larson, Isa Bernardini, Vorasuk Shotelersuk, Yair Anikster, Geraldine McDowell, Rosemary Lemons, Joanru Guo, Jess Thoene | |||
| Cytochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA. | Biological sciences | M.J. Cooper, M.G. Hanna, I.P. Nelson, S. Rahman, R.J.M. Lane, J. Land, S. Heales, A.H.V. Schapira, J.A. Morgan-Hughes, N.W. Wood | |||
| Cytosine methylation and the unequal developmental potentials of the oocyte and sperm genomes.(Gametogenesis '98) | Biological sciences | Timothy H. Bestor | |||
| Dating the origin of the CCR5-delta32 (ital) AIDS-resistance allele by the coalescence of haplotypes. | Biological sciences | Mary Carrington, Stephen J. O'Brien, Cheryl Winkler, David Goldman, David E. Reich, David Chandler, Michael Dean, Bernard Gerrard, Xavier Estivill, David B. Goldstein, Michael W. Smith, Paolo Gasparini, David Duffy, Carole Oddoux, Harry Ostrer, Susanne Morlot, Gordon Duff, Gavin A. Huttley, Nick Martin, Mireille Claustres, Damjan Glavac, J. Claiborne Stephens, Hyoung Doo Shin, Rando Allikmets, Lynn Shriml, Michael Malasky, Maria D. Ramos, Maria Tzetis, Francesco S. de Giovine, Georgios Nasioulas, Michael Aseev, E. Kanavakis, Marios Kambouris, Vladislav Baranov, Hiljar Sibul, Andres Metspalu, Jorg Schmidtke, Matthew Hanson, Luba Kalaydjieva | |||
| DAX1 mutations map to putative structural domains in a deduced three-dimensional model. | Biological sciences | Myron Genel, Eric Vilain, Robert J. Fletterick, David Chitayat, Maria I. New, Joseph M. Gertner, John D. Baxter, Roberta A. Pagon, Weiwen Guo, Edward R.B. McCabe, Arthur H.M. Burghes, Richard L. Wagner, Albert E. Chudley, Yao-Hua Zhang, Bing-Ling Huang, Linda McCabe, Thomas P. Burris, Kwame Anyane-Yeboa, Georgeanna J. Klingensmith, Steven N. Levine, Jon Nakamoto, John G. Pappas, Charmian A. Quigley, Ira M. Rosenthal | |||
| Deletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families. | Biological sciences | Christine Hall, Peter Scambler, William Reardon, Frances Goodman, Maria-Luisa Giovannucci-Uzielli, Robin Winter | |||
| Deletions within COL7A1 exons distant from consensus splice sites alter splicing and produce shortened polypeptides in dominant dystrophic epidermolysis bullosa. | Biological sciences | Yann Barrandon, Mark Lathrop, Alain Hovnanian, Catherine Prost, Anavaj Sakuntabhai, Nadja Hammami-Hauasli, Christine Bodemer, Ariane Rochat, Yves de Prost, Fenella Wojnarowska, Leena Bruckner-Tuderman | |||
| Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit. | Biological sciences | Orly Elpeleg, Wim Ruitenbeek, Lambert van den Heuvel, Roel Smeets, Zully Gelman-Kohan, Jan Loeffen, Frans Trijbels, Edwin Mariman, Diederik de Bruijn, Jan Smeitink | |||
| Detecting marker-disease association by testing for Hardy-Weinberg disequilibrium at a marker locus.(Statistical Data Included) | Biological sciences | B.S. Weir, Dahlia Nielsen, M.G. Ehm | |||
| Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome.(Statistical Data Included) | Biological sciences | Marie-Claire Gubler, Corinne Antignac, Jean-Pierre Grunfeld, Eileen Boye, Geraldine Mollet, Lionel Forestier, Lola Cohen-Solal, Laurence Heidet, Pierre Cochat, Jean-Bernard Palcoux | |||
| Determining carrier probabilities for breast cancer-susceptibility genes BRCA1 and BRCA2. | Biological sciences | Donald A. Berry, Giovanni Parmigiani, Omar Aguilar | |||
| Determinism and mass-media portrayals of genetics. | Biological sciences | Celeste M. Condit, Nneka Ofulue, Kristine M. Sheedy | |||
| Development and maintenance of ear innervation and function: lessons from mutations in mouse and man.(Genetics of Perception '98) | Biological sciences | Bernd Fritzsch, Kirk Beisel | |||
| Different genetic components in the Ethiopian population, identified by mtDNA and Y-chromosome polymorphisms. | Biological sciences | Laurent Excoffier, Michael Hammer, A. Silvana Santachiara-Benerecetti, Ornella Semino, Giuseppe Passarino, Lluis Quintana-Murci | |||
| Dihydropyrimidinase deficiency: structural organization, chromosomal localization, and mutation analysis of the human dihydropyrimidinase gene. | Biological sciences | Yuichi Endo, Naoki Hamajima, Masanori Kouwaki, Peter Vreken, Kouichi Matsuda, Satoshi Sumi, Masayuki Imaeda, Satoru Ohba, Kiyoshi Kidouchi, Masaru Nonaka, Makoto Sasaki, Nanaya Tamaki, Ronnie De Abreu, Jan Rotteveel, Andre Van Kuilenburg, Albert Van Gennip, Hajime Togari, Yoshiro Wada | |||
| Direct evidence for suppression of recombination within two pericentric inversions in humans: a new sperm-FISH technique. | Biological sciences | Terry Ashley, Maarit Jaarola, Renee H. Martin | |||
| Disequilibrium likelihoods for fine-scale mapping of a rare allele.(Statistical Data Included) | Biological sciences | Elizabeth A. Thompson, Jinko Graham | |||
| Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia - multiple epiphyseal dysplasia disease spectrum. | Biological sciences | William R. Wilcox, Robert G. Knowlton, David L. Rimoin, Daniel H. Cohn, William G. Cole, Michael D. Briggs, Geert R. Mortier, Lily M. King, Steven S. Golik, Jacky Bonaventure, Lieve Nuytinck, Anne De Paepe, Jules G. Leroy, Leslie Biesecker, Mark Lipson, Ralph S. Lachman | |||
| Diversity of cystic fibrosis mutation-screening practices. | Biological sciences | Robert J. Desnick, Wayne W. Grody, Walter W. Noll, Nancy J. Carpenter | |||
| DNA polymorphisms in two paraoxonase genes (PON1 and PON2) are associated with the risk of coronary heart disease. | Biological sciences | Christopher E. Aston, Dharambir K. Sanghera, Nilmani Saha, M. Ilyas Kamboh | |||
| Drosophila immune response as models for human immunity.(Insights from Model Systems) | Biological sciences | Mitchell S. Dushay, Elizabeth D. Eldon | |||
| Dual origins of Finns revealed by Y chromosome haplotype variation. | Biological sciences | David Goldman, Leena Peltonen, Markku Linnoila, Andrew W. Bergen, Markus Perola, Rick A. Kittles, Richard A. Aragon, Matti Virkkunen, Jeffrey C. Long | |||
| Efficient strategies for genome scanning with affected sib pairs.(response to Peter Holmans and Nick Craddock, American Journal of Human Genetics, vol. 60, p. 657, 1997; includes authors' reply) | Biological sciences | David Curtis, Peter Holmans, Nick Craddock | |||
| Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population. | Biological sciences | Martti Sorri, Kari Majamaa, Jukka S. Moilanen, Seija Uimonen, Anne M. Remes, Pasi I. Salmela, Mikko Karppa, Kirsi A.M. Majamaa-Voltti, Harri Rusanen, Keijo J. Peuhkurinen, Ilmo E. Hassinen | |||
| Estimating African American admixture proportions by use of population-specific alleles.(Statistical Data Included) | Biological sciences | Richard Cooper, Robert E. Ferrell, Mark D. Shriver, David B. Allison, Mark A. Batzer, Ranjan Deka, Esteban J. Parra, Jeremy Martinson, Amy Marcini, Joshua Akey, Terrence Forrester | |||
| European Y-chromosomal lineages in Polynesians: a contrast to the population structure revealed by mtDNA.(Statistical Data Included) | Biological sciences | Mark A. Jobling, Bryan C. Sykes, Fabricio R. Santos, Matthew E. Hurles, John Loughlin, Catherine Irven, Jayne Nicholson, Paul G. Taylor | |||
| Evidence for a novel osteosarcoma tumor-suppressor gene in the chromosome 18 region genetically linked with Paget disease of bone. | Biological sciences | K. Krishnan Unni, Frederick R. Singer, G. David Roodman, Maggie J. Nellissery, Susan S. Padalecki, Zoran Brkanac, Robin J. Leach, Marc F. Hansen | |||
| Evidence for at least two major loci influencing human fatness. | Biological sciences | D.C. Rao, Claude Bouchard, Treva Rice, Louis Perusse, Ingrid B. Borecki, John Blangero | |||
| Evidence for a Turner syndrome locus or loci at Xp11.2-p22.1. | Biological sciences | Harvey Kushner, Virginia P. Sybert, Daniel L. Van Dyke, Stuart Schwartz, H. Allen Gardner, Wendy L. Flejter, Andrew R. Zinn, Vijay S. Tonk, Zhong Chen, Rudy Guerra, Judith L. Ross | |||
| Evidence for autosomal dominant inheritance of prostate cancer. | Biological sciences | Daniel J. Schaid, Shannon K. McDonnell, Stephen N. Thibodeau, Michael L. Blute | |||
| Evidence for digenic inheritance of nonsyndromic hereditary hearing loss in a Swedish family. | Biological sciences | Jorune Balciuniene, Ulf Pettersson, Niklas Dahl, Erik Borg, Eva Samuelsson, Markus J. Koisti, Elena E. Jazin | |||
| Evidence for genetic heterogeneity in X-linked congenital stationary night blindness. | Biological sciences | Maria A. Musarella, Richard G. Weleber, Kym M. Boycott, William G. Pearce, Tracy A. Maybaum, David G. Birch, Yozo Miyake, S.L.Young Rockefeller, N. Torben Bech-Hansen | |||
| Evidence for linkage of human primary systemic carnitine deficiency with D5S436 (ital): a novel gene locus on chromosome 5q. | Biological sciences | Akio Koizumi, Goro Takada, Yutaka Shoji, Tsuyoshi Kayo, Tomoaki Ohata, Tsutomu Takahashi, Kenji Harada | |||
| Evidence from human oocytes for a genetic bottleneck in an mtDNA disease. | Biological sciences | D.R. Marchington, V. Macaulay, G.M. Hartshorne, D. Barlow, J. Poulton | |||
| Evidence that a locus for familial high myopia maps to chromosome 18p. | Biological sciences | Richard A. King, Larry D. Atwood, Douglas J. Wilkin, Terri L. Young, Shawn M. Ronan, Leslie A. Drahozal, Scott C. Wildenberg, Alison B. Alvear, William S. Oetting | |||
| Evidence that lymphangiomyomatosis is caused by TSC2 (ital) mutations: chromosome 16p13 loss of heterozygosity in angiomyolipomas and lymph nodes from women with lymphangiomyomatosis. | Biological sciences | Anil G. Menon, Elizabeth Petri Henske, Francis X. McCormack, Teresa A. Smolarek, Lisa L. Wessner, Johanna C. Mylet | |||
| Examination of factors associated with instability of the FMR1 CGG repeat. | Biological sciences | Charles E. Schwartz, W. Ted Brown, Gillian Turner, Allison E. Ashley-Koch, Hazel Robinson, Anne E. Glicksman, Sarah L. Nolin, Stephanie L. Sherman | |||
| Exhaustive screening of the acid beta-glucosidase gene, by fluorescence-assisted mismatch analysis using universal primers: mutation profile and genotype/phenotype correlations in Gaucher disease. | Biological sciences | Axel Kahn, Dominique P. Germain, Jean-Philippe Puech, Catherine Caillaud, Livia Poenaru | |||
| Familial disclosure in defiance of nonconsent.(includes reply) | Biological sciences | Jon F. Merz, Pamela Sankar, Mildred K. Cho, Bartha Maria Knoppers | |||
| Familial eosinophilia maps to the cytokine gene cluster on human chromosomal region 5q31-q33. | Biological sciences | Michele Cargill, Margaret A. Tucker, Alisa M. Goldstein, Albert Y. Lin, Peter A. Zimmerman, Eric Lander, John D. Rioux, Mark J. Daly, Todd Green, Thomas Nutman, Valerie A. Stone, Huy Nguyen, Thomas Hudson | |||
| Familial porphyria cutanea tarda: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles.(Statistical Data Included) | Biological sciences | Robert J. Desnick, Manuel Mendez, Lonnie Sorkin, Maria Victora Rossetti, Kenneth H. Astrin, Alcira M. del C. Batlle, Victoria E. Parera, Gerardo Aizencang | |||
| Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment with aminoglycosides. | Biological sciences | Leila D'Urbano, Massimo Zeviani, Xavier Estivill, Antonio Torroni, Rosaria Scozzari, Nancy Govea, Anna Barcelo, Enric Perello, Celia Badenas, Enrique Romero, Luis Moral | |||
| Families with familial combined hyperlipidemia and families enriched for coronary artery disease share genetic determinants for the atherogenic lipoprotein phenotype. | Biological sciences | Aldons J. Lusis, Ronald M. Krauss, Hooman Allayee, Rita M. Cantor, Bradley E. Aouizerat, Geesje M. Dallinga-Thie, Christopher D. Lanning, Jerome J. Rotter, Tjerk W.A. de Bruin | |||
| Fetal DNA in maternal plasma: the plot thickens and the placental barrier thins. | Biological sciences | ||||
| Fine mapping of the diabetes-susceptibility locus, IDDM4 (ital), on chromosome 11q13. | Biological sciences | Jaakko Tuomilehto, Dag E. Undlien, John A. Todd, Kara M.D. Hunter, Rebecca C.J. Twells, Francesco Cucca, Eva Tuomilehto-Wolf, Julian P.H. Shield, Stephen C. Bain, Jorn Nerup, Flemming Pociot, Roger D. Cox, Yusuke Nakagawa, Yoshihiko Kawaguchi, Claire Muxworthy, Amanda Wilson, Marilyn E. Merriman, Tony Merriman, Patricia A. McKinney, Constantin Ionesco-Tirgoviste, Lorenza Nistico, Raffaella Buzzetti, Paolo Pozzilli, Geir Joner, Eric Thorsby, Kjersti S. Ronningen | |||
| Flexing DNA: HMG-box proteins and their partners.(Protein Complexes '98) | Biological sciences | Marco E. Bianchi, Monica Beltrame | |||
| Founder BRCA1 (ital) and BRCA2 (ital) mutations in French Canadian breast and ovarian cancer families.(Statistical Data Included) | Biological sciences | Kenneth Morgan, Steven A. Narod, Parviz Ghadirian, Diane Provencher, P. Andrew Futreal, William D. Foulkes, Patricia N. Tonin, Anne-Marie Mes-Masson, David E.C. Cole, Michelle Mahon | |||
| Founder effect at PGL1 in hereditary head and neck paraganglioma families from the Netherlands. | Biological sciences | Peter Devilee, Cees J. Cornelisse, Evert M. van Schothorst, Jeroen C. Jansen, Edward Grooters, Duncan E.M. Prins, Joris J. Wiersinga, Andel G.L. van der Mey, G-J. B. Ommen | |||
| Frequency and carrier risk associated with common BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer patients. | Biological sciences | Christine M. Eng, Ira J. Bleiweiss, Flora H. Fodor, Ainsley Weston, Leslie D. McCurdy, Mary M. Walsh, Paul I. Tartter, Steven T. Brower | |||
| Frequency of somatic and germ-line mosaicism in retinoblastoma: implications for genetic counseling. | Biological sciences | Rebecca E. Fraioli, Thaddeus P. Dryja, Kimberly C. Sippel, Gary D. Smith, Mary E. Schalkoff, Joanne Sutherland, Brenda L. Gallie | |||
| From amplification to gene in thyroid cancer: a high-resolution mapped bacterial artificial-chromosome resource for cancer chromosome aberrations guides gene discovery after comparative genome hybridization. | Biological sciences | M. Wang, X.-N. Chen, J.A. Knauf, R. Gonsky, E.H. Lai, S. Chissoe, J.A. Fagin, J.R. Korenberg | |||
| Functional characterization of missense mutations in ATP7B (ital): Wilson disease mutation or normal variant? | Biological sciences | ||||
| Functionally null mutations in patients with the cblG(ital)-variant form of methionine synthase deficiency. | Biological sciences | H.Y. Hwang, A. Wilson, D. Leclerc, F. Saberi, E. Campeau, B. Shane, J.A. Phillips III, D.S. Rosenblatt, R.A. Gravel | |||
| Gene localization for aculeiform cataract, on chromosome 2q33-35. | Biological sciences | Daniel F. Schorderet, Francis L. Munier, Gail Billingsley, Elise Heon, Sen Liu, Ottavio Bernasconi, Cathy Tsifildis | |||
| Gene localization for an autosomal dominant familial periodic fever to 12p13. | Biological sciences | John Mulley, Meredith Wilson, Andre Reis, Kathrin Saar, Gerry Hewitt, Franz Rushendorf, Hilary Phillips, Alison Colley, David Sillence | |||
| Genetic analysis of meiotic recombination in humans by use of sperm typing: reduced recombination within a heterozygous paracentric inversion of chromosome 9q32-q34.3. | Biological sciences | Graeme M. Brown, Margaret Leversha, Maj Hulten, Malcom A. Ferguson-Smith, Nabeel A. Affara, Robert A. Furlong | |||
| Genetic association mapping based on discordant sib pairs: the discordant-alleles test. | Biological sciences | Michael Boehnke, Carl D. Langefeld | |||
| Genetic association of apolipoprotein E with age-related macular degeneration. | Biological sciences | Albert Hofman, Diederick E. Grobbee, Marc Cruts, Cornelia M. van Duijn, Caroline C.W. Klaver, Paulus T.V.M. de Jong, Mike Kliffen, Christine van Broeckhoven | |||
| Genetic background of congenital chloride diarrhea in high-incidence populations: Finland, Poland, and Saudi Arabia and Kuwait. | Biological sciences | Juha Kere, Pia Hoglund, Mari Auranen, Jerzy Socha, Kataryna Popinska, Hisham Nazer, Usha Rajaram, Abdullah Al Sanie, Mohammed Al-Ghanim, Christer Holmberg, Albert De la Chappelle | |||
| Genetic disease in offspring of long-term survivors of childhood and adolescent cancer. | Biological sciences | John J. Mulvihill, Julianne Byrne, Roger R. Connelly, Sandra C. Steinhorn, Donald F. Austin, Frederick F. Holmes, Louise C. Strong, Charles F. Lynch, Sonja A. Rasmussen, Max H. Myers, John Flannery, Grace E. Holmes | |||
| Genetic evidence for the Proto-Austronesian homeland in Asia: mtDNA and nuclear DNA variation in Taiwanese aboriginal tribes.(Statistical Data Included) | Biological sciences | Mark Stoneking, Terry Melton, Stephanie Clifford, Jeremy Martinson, Mark Batzer | |||
| Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. | Biological sciences | D. Ford, B.A.J. Ponder, D. Goldgar, M.D. Teare, D.F. Easton, N. Haites, M. Stratton, S. Narod, P. Devilee, D.T. Bishop, B. Weber, G. Lenoir, J. Chang-Claude, H. Sobol, J. Struewing, A. Arason, S. Scherneck, J. Peto, T.R. Rebbeck, P. Tonin, S. Neuhausen, R. Bakardottir, J. Eyfjord, H. Lynch, S.A. Gayther, J.M. Birch, A. Lindblom, D. Stoppa-Lyonnet, S. Seitz, L.A. Cannon-Albright, A. Schofield, M. Zelada-Hedman, H. Vasen, C.M. Maugard, R.J. Scott, U. Hamann, A. Borg, Y. Bignon | |||
| Genetic heterogeneity of mannose-binding proteins: the Jekyll and Hyde of innate immunity?(Immunogenetics '98) | Biological sciences | R.Alan B. Ezekowitz | |||
| Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST (ital) and FGFR (ital) mutations. | Biological sciences | Timothy D. Howard, Bruce R. Korf, Zvi Borochowitz, WIlliam A. Paznekas, Michael L. Cunningham, Mark H. Lipson, Art W. Grix, Murray Feingold, Rosalie Goldberg, Kirk Aleck, John Mulliken, Mingfei Yin, Ethyline Wang Jabs | |||
| Genetic linkage of hereditary gingival fibromatosis to chromosome 2p21. | Biological sciences | Mark J. Pettenati, Thomas C. Hart, Debora Pallos, Donald W. Bowden, Joey Bolyard, Jose R. Cortelli | |||
| Genetic mapping of ossification of the posterior longitudinal ligament of the spine. | Biological sciences | Mark Leppert, Brith Otterud, Hiroaki Koga, Takashi Sakou, Eiji Taketomi, Kyouji Hayashi, Takuya Numasawa, Seiko Harata, Kazunori Yone, Shunji Matsunaga, Ituro Inoue | |||
| Genetic mapping refines DFNB3 (ital) to 17p11.2, suggests multiple alleles of DFNB3 (ital), and supports homology to the mouse model shaker-2 (ital).(nonsyndromic congenital recessive deafness gene) | Biological sciences | Edward R. Wilcox, Thomas B. Friedman, James R. Lupski, Sally A. Camper, David F. Dolan, Yong Liang, Frank J. Probst, Aihui Wang, I. Nyoman Arhya, Thomas D. Barber, Ken-Shiung Chen, Dilip Deshmukh, John T. Hinnant, Lynn E. Carter, Pawan K. Jain, Anil K. Lalwani, Xiaoyan C. Li, Sukarti Moeljopawiro, Robert Morell, Clelia Negrini, Sunaryana Winata | |||
| Genetics of vitamin D 1-alpha-hydroxylase deficiency in 17 families. | Biological sciences | Walter L. Miller, Anthony A. Portale, Jonathan T. Wang, Chin-Jia Lin, Sandra M. Burridge, Glenn K. Fu, Malgorzata Labuda | |||
| Genome screens using linkage disequilibrium tests: optimal marker characteristics and feasibility.(Statistical Data Included) | Biological sciences | Nicola H. Chapman, Ellen M. Wijsman | |||
| Genome search in celiac disease. | Biological sciences | ||||
| Genomewide search for dehydrated hereditary stomatocytosis (hereditary xerocytosis): mapping of locus to chromosome 16 (16q23-qter). | Biological sciences | M. Carella, G. Stewart, J.F. Ajetunmobi, S. Perrotta, S. Grootenboer, G. Tchernia, J. Delaunay, A. Totaro, L. Zelante, P. Gasparini, A. Iolascon | |||
| Genotype/phenotype correlation in autosomal recessive lamellar ichthyosis. | Biological sciences | Hans Christian Hennies, Andre Reis, Wolfgang Kuster, Victor Wiebe, Alice Krebsova | |||
| Genotype-phenotype correlations in attenuated adenomatous polyposis coli. | Biological sciences | Steven Gallinger, Bharati Bapat, Hong Cheng, Lisa Madlensky, Zane Cohen, Claudio Soravia, Terri Berk, Angela Mitri | |||
| Genotype-phenotype correspondence in Sanfilippo syndrome type B. | Biological sciences | Hong G. Zhao, Elena L. Aronovich, Chester B. Whitley | |||
| Genotype-phenotype relationships in ataxia-telangiectasia and variants. | Biological sciences | Richard A. Gatti, Yosef Shiloh, Pamela Russell, Rami Khosravi, Luciana Chessa, Shlomit Gilad, Yaron Galanty, Maria Piane, Timothy J. Jorgensen, Anat Bar-Shira | |||
| Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients. | Biological sciences | Kit-Sing Au, Joseph A. Rodriguez, Jennifer L. Finch, Kelly A. Volcik, E. Steve Roach, Mauricio Delgado, Estanislado Rodriguez Jr., Hope Northrup | |||
| Germ-line mutation analysis in patients with multiple endocrine neoplasia type 1 and related disorders. | Biological sciences | Michel Pugeat, Vincent Rohmer, Philippe Chanson, David Goldgar, Gilbert Lenoir, Bernard Conte-Devolx, Catherine Bauters, Sophie Giraud, Chang X. Zhang, Olga Serova-Sinilnikova, Virginie Wautot, Janine Salandre, Nathalie Buisson, Christine Waterlot, Nicole Porchet, Jean-Pierre Aubert, Philippe Emy, Guillaume Cadiot, Brigitte Delemer, Olivier Chabre, Patricia Niccoli, Frederic Leprat, Francoise Duron, Brigitte Emperauger, Patrick Cougard, Pierre Goudet, Emile Sarfati, Jean-Paul Riou, Sylvie Guichard, Michel Rodier, Alain Meyrier, Philippe Caron, Marie-Christine Vantyghem, Michel Assayag, Jean-Louis Peix, Michel Vollotton, Patrick Gaudray, Charles Proye, Yin Y. Shugart, Arnaud Murat, Alain Calender | |||
| Getting to the nucleus of mitochrondrial disorders: identification of respiratory chain-enzyme genes causing Leigh syndrome.(Editorial) | Biological sciences | Hans-Herik M. Dahl | |||
| Group identity and human diversity: keeping biology straight from culture.(Human Genetics '98: Ethical Issues in Genetics) | Biological sciences | Eric T. Juengst | |||
| Haplotype analysis for Icelandic families defines a minimal interval for the macular corneal dystrophy type I gene. | Biological sciences | Margaret A. Pericak-Vance, Jennifer Baldwin, Jeffrey M. Stajich, Jeffery M. Vance, Ning-Pu Liu, Fridbert Jonasson, Susan Dew-Knight, Felicia Lennon, Gordon K. Klintworth | |||
| Haplotype and phenotype analysis of nine recurrent BRCA2 (ital) mutations in 111 families: results of an international study. | Biological sciences | Kenneth Offit, Barbara Weber, Jeff Boyd, Ake Borg, Mary-Claire King, Manfred Schwab, Timothy Bishop, Steven A. Narod, Douglas Easton, Bruce A.J. Ponder, David Goldgar, Ruth Gershoni-Baruch, Judy Garber, Andrew K. Godwin, Susan L. Neuhausen, Michael Stratton, Peter Devilee, Lisa Cannon-Albright, Rodney J. Scott, Elizabeth Schubert, Dominque Stoppa-Lyonnet, Edith Olah, Bela Csokay, Olga Serova, Fiona Lalloo, Ana Osorio, M. Adelaide Caligo, Andy Schofield, Eric Teugels, Javier Benitez | |||
| Haplotype mapping of a major quantitative-trait locus for fetal hemoglobin production, on chromosome 6q23. | Biological sciences | J. Mitchell, C. Garner, T. Hatzis, J. Reittie, M. Farrall, S.L. Thein | |||
| Haplotype structure and population genetic inferences from nucleotide-sequence variation in human lipoprotein lipase. | Biological sciences | Andrew G. Clark, Erkki Vartiainen, Anne Buchanan, Eric Boerwinkle, Charles F. Sing, Kenneth M. Weiss, Deborah A. Nickerson, Markus Perola, Scott L. Taylor, Jari Stengard, Veikko Salomaa | |||
| Heterogeneity in world distribution of the thermolabile C677T mutation in 5,10-methylenetetrahydrofolate reductase. | Biological sciences | G. Pepe, O. Camacho Vanegas, B. Giusti, T. Brunelli, R. Marcucci, M. Attanasio, O. Rickards, G.F. De Stefano, D. Prisco, G.F. Gensini, R. Abbate | |||
| HLA and pregnancy: the paradox of the fetal allograft.(human leukocyte antigen)(Immunogenetics '98) | Biological sciences | Carole Ober | |||
| HMG CoA lyase deficiency: identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41Q. | Biological sciences | Jacqueline Roberts, Grant A. Mitchell, Pinar T. Ozand, Marie Robert France, Lyudmila Ashmarina, K. Michael Gibson, Ronald J. Wanders, Shupei Wang, Isabelle Chevalier, E. Plochl, Henry Miziorko | |||
| Homozygosity and linkage-disequilibrium mapping of the syndrome of congenital hypoparathyroidism, growth and mental retardation, and dysmorphism to a 1-cM interval on chromosome 1q42-43. | Biological sciences | Val C. Sheffield, Rivka Carmi, Ruti Parvari, Eli Herschkovitz, Adam Kanis, Rafael Gorodischer, Shlomit Shalitin | |||
| Homozygosity mapping of a gene responsible for gelatinous drop-like corneal dystrophy to chromosome 1p. | Biological sciences | Yusuke Nakamura, Hiroki Kurahashi, Yasuo Tano, Toshihiro Tanaka, Naoyuki Maeda, Hitoshi Watanabe, Motokazu Tsujikawa, Masaki Okada, Syuji Yamamoto, Yoshitsugu Inoue, Akira Kiridoshi, Kouki Matsumoto, Yuichi Ohashi, Shigeru Kinoshita, Yoshikazu Shimomura | |||
| Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients. | Biological sciences | Christine Van Broeckhoven, James R. Lupski, Peter De Jonghe, Lawrence T. Reiter, Philip J. Hastings, Eva Nelis | |||
| Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients. | Biological sciences | Silvia Muro, Pilar Rodriguez-Pombo, Janet Hoenicka, Belen Perez, Celia Periez-Cerda, Eva Richard, Lourdes R. Desviat, Magdalena Ugarte | |||
| Hyperphenylalaninemia with high levels of 7-biopterin is associated with mutations in the PCBD (ital) gene encoding the bifunctional protein pterin -4a carbinolamine dehydratase and transcriptional coactivator (DCoH). | Biological sciences | Nenad Blau, Beat Thony, Frank Neuheiser, Lucja Kierat, Milan Blaskovics, Pamela H. Arn, Patrick Ferreira, Igor Rebrin, June Ayling | |||
| Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36. | Biological sciences | Fernando M.S. Tome, Michel Fardeau, Francesco Muntoni, Isabelle Desguerre, Caroline Sewry, Behzad Moghadaszadeh, Haluk Topaloglu, Sylvana Pavek, Michele Mayer, Pascale Geicheney | |||
| Identification of a new splice form of the EDA1 (ital) gene permits detection of nearly all X-linked hypohidrotic dysplasia mutations. | Biological sciences | Betsy Ferguson, Alex W. Monreal, Jonathan Zonana | |||
| Identification of constitutional MT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database. | Biological sciences | C. Junien, E. Denamur, C. Jeanpierre, Henry I., J.-O. Cabanis, S. Luce, A. Cecille, J. Elion, M. Peuchmaur, C. Loirat, P. Niaudet, M.-C. Gubler | |||
| Identification of cryptic rearrangements in patients with 18q- deletion syndrome. | Biological sciences | Zoran Brkanac, Robin J. Leach, Jannine D. Cody, Barbara R. DuPont | |||
| Identification of genetic markers associated with Gilles de la Tourette syndrome in an Afrikaner population. | Biological sciences | Jurg Ott, Ingrid Simonic, George S. Gericke, James L. Weber | |||
| Identification of microdeletions spanning the Diamond-Blackfan anemia locus on 19q13 and evidence for genetic heterogeneity.(Statistical Data Included) | Biological sciences | Nancy F. Olivieri, Gil Tchernia, Niklas Dahl, Irma Dianzani, Hope H. Punnett, Peter Gustavsson, Emanuela Garelli, Natalia Draptchinskaia, Sarah Ball, Thiebaut-Noel Willig, Dimitri Tentler, Frank E. Shafer, Holger Cario, Ugo Ramenghi, Anders Glomstein, Rudolf A. Pfeiffer, Andy Goringe, Elizabeth Smibert, Goran Elinder | |||
| Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation. | Biological sciences | Tommie V. McCarthy, James J.A. Heffron, Mary Lehane, Bernadette M. Manning, Kathleen A. Quane, Helle Ording, Albert Urwyler, Vincenzo Tegazzin, John O'Halloran, Edmund Hartung, Linda M. Giblin, Patrick J. Lynch, Pat Vaughan, Kathrin Censier, Diana Bendixen, Giacomo Comi, Luc Heytens, Koen Monsieurs, Tore Fagerlund, Werner Wolz, Clemens R. Muller | |||
| Identification of PEX10 (ital), the gene defective in complementation group 7 of the peroxisome-biogenesis disorders. | Biological sciences | David Valle, Stephen J. Gould, Daniel S. Warren, Hugo W. Moser, James C. Morrell | |||
| Imprinted expression of SNRPN in human preimplantation embryos. | Biological sciences | Robert Daniels, Marilyn Monk, John Huntriss, Virginia Bolton | |||
| Incorporating genotypes of relatives into a test of linkage disequilibrium. | Biological sciences | Laurent Excoffier, Montgomery Slatkin | |||
| Inflation of sibling recurrence-risk ratio, due to ascertainment bias and/or overreporting. | Biological sciences | Sun-Wei Guo | |||
| Inheritance of astigmatism: evidence for a major autosomal dominant locus. | Biological sciences | Paola Forabosco, Maurizio Clementi, Mario Angi, Elena Di Gianantonio, Romano Tenconi | |||
| Insights from model systems: a model of elegance. | Biological sciences | Marc Vidal, Marian Walhout, Hideki Endoh, Thierry-Mieg, Wendy Wong | |||
| Insights from model systems: genetic causes of female infertility: targeted mutagenesis in mice. | Biological sciences | Jurrien Dean, Stephen Greenhouse, Tracy Rankin | |||
| Instant recognition: the genetics of pitch perception. | Biological sciences | Peter K. Gregersen | |||
| Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.(telomeric survival motor neuron, centromeric survival motor neuron)(Statistical Data Included) | Biological sciences | J.R. Mendell, D.W. Parsons, P.E. McAndrew, S.T. Iannaccone, A.H.M. Burghes, T.W. Prior | |||
| Is the bottleneck cracked?(Mitochondrial Genetics '98) | Biological sciences | D.R. Marchington, V. Macaulay, J. Poulton | |||
| Laboratory guidelines for Huntington disease genetic testing. | Biological sciences | ||||
| Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A. | Biological sciences | Jaak Jaeken, Gert Matthijs, Els Schollen, Emile Van Schaftingen, Jean-Jacques Cassiman | |||
| Likelihood analysis of disequilibrium mapping, and related problems. | Biological sciences | Montgomery Slatkin, Bruce Rannala | |||
| Linkage analysis of chromosome 1q in 136 prostate cancer families. | Biological sciences | Steven A. Narod, Parviz Ghadirian, Douglas Easton, Audrey Ardern-Jones, Jacques Simard, Fernand Labrie, Rifat Hamoudi, Patrick Biggs, Deborah Ford, Steve Edwards, William D. Foulkes, Rosalind A. Eeles, Francine Durocher, Dawn Teare, Mike Badzioch, Sandra Gill, David Dearnaley, Anna Dowe, Robert Shearer, Dawn L. McLennan, Richard L. Norman, Armen Aprikian, Chris Amos, Terri M. King | |||
| Linkage analysis of human leukocyte antigen (HLA) markers in familial psoriasis: strong disequilibrium effects provide evidence for a major determinant in the HLA-B/-C region. | Biological sciences | John J. Voorhees, Martin Kronke, Enno Christophers, Rajan P. Nair, Stefan Jenisch, James T. Elder, Tilo Henseler, Sun-Wei Guo, Eckhard Westphal, Philip Stuart | |||
| Linkage analysis of X-linked cone-rod dystrophy: localization to Xp11.4 and definition of a locus distinct from RP2 and RP3. | Biological sciences | Robert E. Ferrell, Michael B. Gorin, S. Tonya Stefko, Albert B. Seymour, Anita Dash-Modi, Jeffrey R. O'Connell, Maria Shaffer-Gordon, Tammy S. Mah, Ramaiah Nagaraja, Jeremiah Brown, Alan E. Kimura | |||
| Linkage and association between inflammatory bowel disease and a locus on chromosome 12. | Biological sciences | Garth D. Ehrlich, Robert A. Preston, Daniel E. Weeks, Christopher E. Aston, Sean Davis, Richard H. Duerr, M. Michael Barmada, Leilei Zhang, Lara J. Chensny, Jody L. Brown | |||
| Linkage disequilibrium analysis in a recently founded population: evaluation of the variegate porphyria founder in South African Afrikaners. | Biological sciences | Johannes Z. Groenewald, Junita Liebenberg, Ilse M. Groenewald, Louise Warnich | |||
| Linkage disequilibrium and gene mapping: an empirical least-squares approach. | Biological sciences | Laura C. Lazzeroni | |||
| Linkage-disequilibrium mapping of autistic disorder, with 15q11-13 markers. | Biological sciences | Edwin H. Cook Jr., Nancy J. Cox, Eric Courchesne, Catherine Lord, Alan Lincoln, Bennett L. Leventhal, Rachel Y. Courchesne, David Gonen, Stephen J. Guter, Kristi Nix, Richard Haas | |||
| Linkage disequilibrium mapping of the gene for Margarita Island ectodermal dysplasia (ED4) to 11q23. | Biological sciences | Richard A. Spritz, Koji Suzuki, Tania Bustos | |||
| Linkage of familial Hibernian fever to chromosome 12p13. | Biological sciences | John McCarthy, Richard J. Powell, Christopher I. Amos, Mark Phelan, Michael F. McDermott, Kathleen A. Quane, B. William Ogunkolade, Elizabeth M. McDermott, Lisa C. Jones, Ying Wan, Michael G. Molloy, Graham A. Hitman | |||
| Linkage of infantile Bartter syndrome with sensorineural deafness to chromosome 1p. | Biological sciences | Val C. Sheffield, Allyn L. Mark, Rivka Carmi, Brian C. Schutte, Theresa M.H. Brennan, Daniel Landau, Hana Shalev, Fred Lamb, Roxanne Y. Walder | |||
| Linkage of the gene for an autosomal dominant form of juvenile amyotrophic lateral sclerosis to chromosome 9q34. | Biological sciences | Stephen G. Ryan, Phillip F. Chance, John W. Griffin, Yuan Ding, Barbara Crain, Bruce A. Rabin, Mena Scavina, David R. Cornblath | |||
| Localization of a gene for molybdenum cofactor deficiency, on the short arm of chromosome 6, by homozygosity mapping. | Biological sciences | Marie-Therese Zabot, Hanna Mandel, Moshe Berant, Albert Van Gennip, Adel Shalata, Jochen Reiss, Raymonde Szargel, Annick Cohen-Akenine, Claude Dorche, Nico Abeling, Nadine Cohen | |||
| Localization of a multiple synostoses--syndrome disease gene to chromosome 17q21-22. | Biological sciences | David L. Rimoin, Daniel H. Cohn, Ralph S. Lachman, Deborah Krakow, Kent Reinker, Berkley Powell, Rita Cantor, Mary Ann Priore, Ann Garber | |||
| Localization of the fourth locus (GLC1E) for adult-onset primary open-angle glaucoma to the 10p15-p14 region. | Biological sciences | Glen Brice, Mansoor Sarfarazi, Anne Child, Diliana Stoilova, Trushna Desai, Ovidiu C. Trifan, Darmalingum Poinoosawmy, R. Pitts Crick | |||
| Localization of the gene for congenital dyserythropoietic anemia type I to a <1-cM interval on chromosome 15q15.1-15.3. | Biological sciences | Rina Zaizov, Hannah Tamary, Lea Shalmon, Hanna Shalev, Albudar Halil, Dina Dobrushin, Noga Ashkenazi, Meira Zoldan, Peretz Resnitzky, Michael Korostishevsky, Batsheva Bonne-Tamir | |||
| Localization of the ICF syndrome to chromosome 20 by homozygosity mapping. | Biological sciences | Ronald de Groot, Dominique F.C.M. Smeets, Cisca Wijmenga, Peter L. Pearson, Corry M.R. Weemaes, Lambert P.W.J. van den Heuvel, Eric Strengman, Jan A.F.M. Luyten, Ineke J.A.M. van der Burgt, Jos M.T. Draaisma, Jacques J. van Dongen, Ronney A. De Abreu, Lodewijk A. Sandkuijl | |||
| LOD scores, location scores, and X-linked cone dystrophy.(response to article by A.A.B. Bergen and A.J.L.G. Pinckers, American Journal of Human Genetics, vol. 60, p. 1468, 1997) | Biological sciences | Chris F. Inglehearn | |||
| Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity. | Biological sciences | Stylianos E. Antonarakis, Hamish S. Scott, Colette Rossier, Hamid Mehenni, Corinne Gehrig, Jun-ichi Nezu, Asuka Oku, Miyuki Shimane, Nicolas Guex, Jean-Louis Bouin | |||
| Malaria in humans: Plasmodium falciparum blood infection levels are linked to chromosome 5q31-q33. | Biological sciences | Laurent Abel, Pascal Rihet, Yves Traore, Christohpe Aucan, Therese Traore-Leroux, Francis Fumoux | |||
| Male infertility and the genetics of spermatogenesis.(Gametogenesis '98) | Biological sciences | Masaru Okabe, Masahito Ikawa, John Ashkenas | |||
| Mapping genes that underlie ethnic differences in disease risk: methods for detecting linkage in admixed populations, by conditioning on parental admixture. | Biological sciences | ||||
| Mapping of a congenital microcoria locus to 13q31-q32. | Biological sciences | Christelle Rouillac, Olivier Roche, Dominique Marchant, Lucien Bachner, Alexandra Kobetz, Pierre-Jean Toulemont, Christophe Orssaud, Martine Urvoy, Sylvie Odent, Bernard Le Marec, Marc Abitbol, Jean-Louis Dufier | |||
| Mapping of complex traits by single-nucleotide polymorphisms. | Biological sciences | Lue Ping Zhao, Corinne Aragaki, Li Hsu, Filemon Quiaoit | |||
| Mapping of X-linked myxomatous valvular dystrophy to chromosome Xq28. | Biological sciences | Albert David, Bernard Benichou, Florence Kyndt, Jean-Jacques Schott, Jean-Noel Trochu, Florence Baranger, Odile Herbert, Valerie Scott, Edith Fressinaud, Jean-Paul Moisan, Jean-Brieuc Bouhour, Herve Le Marec | |||
| Marker selection for the transmission/disequilibrium test, in recently admixed populations. | Biological sciences | R.W. Morris, B.S. Weir, E.R. Martin, N.L. Kaplan | |||
| Marshall syndrome associated with a splicing defect at the COL11A1 (ital) locus. | Biological sciences | George E. Tiller, Matthew L. Warman, Andrew J. Griffith, Miriam H. Meisler, Leslie K. Sprunger, D. Alexa Sirko-Osadsa | |||
| Maternal mosaicism for a second mutational event in a type I spinal muscular atrophy family. | Biological sciences | Louise Campbell, Kay E. Davies, Victor Dubowitz, Rachel J. Daniels | |||
| Measurement and use of total plasma homocysteine.(American Society of Human Genetics/American College of Medical Genetics Test and Technology Transfer Committee Working Group Statement)(Statistical Data Included) | Biological sciences | ||||
| Mechanisms of cell death in the inherited retinal degenerations.(Human Genetics '98: Apoptosis)(Review) | Biological sciences | Gabriel H. Travis | |||
| Methods of linkage analysis -- and the assumptions underlying them. | Biological sciences | Robert C. Elston | |||
| Methylation levels at selected CpG sites in the factor VIII and FGFR3 genes, in mature female and male germ cells: implications for male-driven evolution. | Biological sciences | Jorn Walter, Bulent Urman, Johannes Oldenburg, Osman El-Maarri, Alexander Olek, Basak Balaban, Markus Montag, Hans van der Ven, Klaus Olek, S. Hande Caglayan | |||
| Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB) in severe and mild forms of alpha-mannosidosis. | Biological sciences | Toshio Matsumoto, Yasuo Gotoda, Nobuaki Wakamatsu, Hisaomi Kawai, Yoshihiko Nishida | |||
| Missense mutations in disease genes: a Bayesian approach to evaluate causality. | Biological sciences | Duncan Thomas, Gloria M. Petersen, Giovanni Parmigiani | |||
| Mitchondrial control-region sequence variation in aboriginal Australians. | Biological sciences | John A. Sved, Sheila M. Van Holst Pellekaan, Marianne Frommer, Barry Boettcher | |||
| Mitochondrial and nuclear genetic relationships among Pacific Island and Asian populations. | Biological sciences | Rebecca L. Cann, Lynn B. Jorde, J. Koji Lum, Jeremy J. Martinson | |||
| Mitochondrial mutations and hearing loss: paradigm for mitochondrial genetics. | Biological sciences | Nathan Fischel-Ghodsian | |||
| Mitochondrial neurogastrointestinal encephalomyopathy syndrome maps to chromosome 22q13.32-qter. | Biological sciences | Ichizo Nishino, Salvatore DiMauro, Michio Hirano, Daniel E. Weeks, Justo Garcia-de-Yebens, Alison C. Jones, Jose R. Carlo, Adam N. Bender, Angelica F. Hahn, Larry M. Salberg, Torbjoern G. Nygaard | |||
| Mitochrondrial dysfunction in idiopathic Parkinson disease.(Mitchondrial Genetics '98) | Biological sciences | W. Davis Parker Jr., Russell H. Swedlow | |||
| Mixed messages: presentation of information in cystic fibrosis-screening pamphlets. | Biological sciences | Theresa M. Marteau, Benjamin S. Wilfond, Greg L. Loeben | |||
| Molecular analysis of 9p deletions associated with XY sex reversal: refining the location of a sex-determining gene to the tip of the chromosome. | Biological sciences | Peter N. Goodfellow, Silvana Guioli, Nigel K. Spurr, Karin Schmitt, Ricky Critcher, Mark Bouzyk, Tsutomu Ogata, Joe J. Hoo, Leonard Pinsky, Giorgio Gimelli, Linda Pasztor | |||
| Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome. | Biological sciences | Alain J. van Gool, Alan R. Lehmann, Miria Stefanini, Christine Troelstra, Donna L. Mallery, Bianca Tanganelli, Stefano Colella, Herdis Steingrimsdottir | |||
| Molecular basis for hypertension in the 'type II variant' of apparent mineralocorticoid excess. | Biological sciences | P.M. Stewart, A. Li, Tedde R., Z.S. Krozowski, A. Pala, K.X.Z. Li, C.H.L. Shackleton, F. Mantero, M. Palermo | |||
| Molecular classification of the inherited hamartoma polyposis syndromes: clearing the muddied waters.(Editorial) | Biological sciences | Charis Eng, HanLee Ji | |||
| Molecular cytogenetic evidence for a common breakpoint in the largest inverted duplications of chromosome 15. | Biological sciences | L. Jenkins, S. Schwartz, A.E. Wandstrat, J. Leana-Cox | |||
| Molecular genetics of the caveolin gene family: implications for human cancers, diabetes, Alzheimer disease, and muscular dystrophy. | Biological sciences | Takashi Okamoto, Richard G. Pestell, Ferruccio Galbiati, Michael P. Lisanti, Philipp E. Scherer, Jeffrey A. Engelman, XiaoLan Zhang, Daniela Volonte, Federica Sotgia, Carlo Minetti | |||
| Molecular prophets of death in the fly.(Insights from Model Systems)(includes related article on using synthetic deletion to define death genes in the fly) | Biological sciences | Antony Rodriguez, Po Chen, John M. Abrams | |||
| mtDNA analysis of a prehistoric Oneota population: implications for the peopling of the New World. | Biological sciences | Anne C. Stone, Mark Stoneking | |||
| mtDNA analysis reveals a major late Paleolithic population expansion from southwestern to northeastern Europe. | Biological sciences | Leila D'Urbano, Pedro Moral, Antonio Torroni, Paivi Lahermo, Peter Forster, Marja-Liisa Savontaus, Rosaria Scozzari, Batsheva Bonne-Tamir, Hans-Jurgen Bandelt, Daniele Sellitto, Chiara Rengo | |||
| mtDNA diversity in Chukchi and Siberian Eskimos: implications for the genetic history of ancient Beringia and the people of the New World.(Statistical Data Included) | Biological sciences | Douglas C. Wallace, Theodore G. Schurr, Yelena B. Starikovskaya, Rem I. Sukernik, Andreas M. Kogelnik | |||
| mtDNA haplogroup X: an ancient link between Europe/Western Asia and North America?(Statistical Data Included) | Biological sciences | Michael D. Brown, Douglas C. Wallace, Theodore G. Schurr, Antonio Torroni, John C. Allen, Fulvio Cruciani, Rosaria Scozzari, Hans-Jurgen Bandelt, Seyed H. Hosseini | |||
| mtDNA mutations that cause optic neuropathy: how do we know? | Biological sciences | Neil Howell, David A. Mackey, Christy Bogolin, Robyn Jamieson, Daniel R. Marendra | |||
| Muir-Torre phenotype has a frequency of DNA mismatch-repair-gene mutations similar to that in hereditary nonpolyposis colorectal cancer families defined by the Amsterdam criteria. | Biological sciences | Thomas Ruzicka, Peter Propping, Roland Kruse, Arno Rutten, Christof Lamberti, Hamid Reza Hosseiny-Malayeri, Yaping Wang, Corina Ruelfs, Mattias Jungck, Micaela Mathiak, Wolfgang Hartschuh, Michele Bisceglia, Waltraut Friedl | |||
| Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome.(Statistical Data Included) | Biological sciences | ||||
| Multiple phenotype modeling in gene-mapping studies of quantitative traits: power advantages. | Biological sciences | Nicholas J. Schork, Robert C. Elston, David B. Allison, Bonnie Thiel, Pamela St. Jean, Ming C. Infante | |||
| Mutational mechanisms for generating microsatellite allele-frequency distributions: an analysis of 4,558 markers. | Biological sciences | Martin Farrall, Daniel E. Weeks | |||
| Mutation analysis of EBE3A in Angelman syndrome patients. | Biological sciences | John M. Graham Jr., Charles Williams, Joseph Wagstaff, Roberta A. Pagon, Perrine Malzac, Hayley Webber, Anne Moncla, Mary Kukolich, Linda A. Ramsdell, Tatsuya Kishino | |||
| Mutation analysis of LMX1B (ital) gene in nail-patella syndrome patients. | Biological sciences | Ilkka Kaitila, Bernhard Zabel, Moshe Frydman, Brendan Lee, Clair A. Francomano, William G. Cole, Sirpa Ala-Mello, Iain McIntosh, Sandra D. Dreyer, Mark V. Clough, Jennifer A. Dunston, Wafa'a Eyaid, Carmen Roig M., Tara Montgomery, andreas Winterpacht | |||
| Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS (ital) gene and apparent locus heterogeneity. | Biological sciences | H. Karel Nieuwenhuis, Jane S. Green, Richard A. Spritz, Dominick Amato, Elise Heon, Eric Legius, Alex V. Levin, Lingling Ho, Jangsuk Oh, Sirpa Ala-Mello, Linda Armstrong, Sylvia Bellucci, Gerson Carakushansky, Julia P. Ellis, Chin-To Fong, A. Pinkers, Naoaki Tamura, Margo L. Whiteford, Hisato Yamasaki | |||
| Mutation analysis of the RSK2 gene in Coffin-Lowry patients: extensive allelic heterogeneity and a high rate of de novo mutations. | Biological sciences | Paolo Sassone-Corsi, Jean-Louis Mandel, Sylvie Jacquot, Andre Hanauer, Dario De Cesare, Solange Pannetier, Karine Merienne | |||
| Mutation and polymorphism analysis of the human homogentisate 1,2-dioxygenase gene in alkaptonuria patients. | Biological sciences | R. Sanmarti, R. Aquaron, D. Beltran-Valero de Bernabe, B. Granadino, I. Chiarelli, B. Porfirio, E. Mayatepek, M.M. Moore, J.J.M. Festen, M.A. Penalva, S. Rodriguez de Cordoba | |||
| Mutation hot spots in the 5p31-linked corneal dystrophies. | Biological sciences | E. Korvatska, F.L. Munier, A. Djemai, M.X. Wang, B. Frueh, A. G.Y. Chiou, S. Uffer, E. Ballestrazzi, R.E. Braunstein, R.K. Forster, W.W. Culbertson, H. Boman, L. Zografos, D.F. Schorderet | |||
| Mutation in PEX16 (ital) is causal in the peroxisome-deficient Zellweger syndrome of complementation group D. | Biological sciences | Masonori Honsho, Shigehiko Tamura, Nobuyuki Shimozawa, Yasuyuki Suzuki, Naomi Kondo, Yukio Fujiki | |||
| Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (type Ic). | Biological sciences | Michel Fardeau, Pascale Guicheney, Bruno Eymard, Claire Donger, Eric Krejci, Adolf Pou Serradell, Suzanne Bon, Sophie Nicole, Danielle Chateau, Francoise Gary, Jean Massoulie | |||
| Mutation of the type X collagen gene (COL10A1(ital)) causes spondylometaphyseal dysplasia. | Biological sciences | Yusuke Nakamura, Shiro Ikegawa, Gen Nishimura, Tomonobu Hasegawa, Toshiro Nagai, Hirofumi Ohashi | |||
| Mutation rate in human microsatellites: influence of the structure and length of the tandem repeat. | Biological sciences | Bernd Brinkmann, Michael Klintschar, Franz Neuhuber, Julia Huhne, Burkhard Rolf | |||
| Mutations in Btk in patients with presumed X-linked agammaglobulinemia. | Biological sciences | Mary Ellen Conley, Yoshiyuki Minegishi, Jurg Rohrer, Derrick Mathias, Jason Treadaway | |||
| Mutations in CYP1B1, the gene for cytochrome P4501, are the predominant cause of primary congenital glaucoma in Saudi Arabia. | Biological sciences | Richard Alan Lewis, Mark Leppert, James R. Lupski, Bassem A. Bejjani, Karim F. Tomey, Kent L. Anderson, David K. Dueker, Monzer Jabak, William F. Astle, Brith Otterud | |||
| Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome. | Biological sciences | Ilkka Kaitila, Brian Sykes, Arnold Munnich, Clair A. Francomano, Jacky Bonaventure, Douglas J. Wilkin, Jinny K. Szabo, Rhoda Cameron, Shirley Henderson, Gary A. Bellus, Michelle L. Mack, John Loughlin | |||
| Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses. | Biological sciences | Patrick J. Willems, Geert Mortier, Filip Vanhoenacker, Wim Wuyts, Ben Hamel, Jan Hendrickx, Egbert Bakker, Florindo Mollica, Hermann-Josef Ludecke, Bekir Sitki Sayli, Ugo E. Pazzaglia, Ernest U. Conrad, Mark Matsushita, Wendy H. Raskind, Wim Van Hul, Kristel De Boulle | |||
| Mutations in the human sterol delta(super7)-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome. | Biological sciences | Christopher A. Wassif, Forbes D. Porter, William E. Connor, Cheryl Maslen, Stivelia Kachilele-Linjewile, Don Lin, Leesa M. Linck, Robert D. Steiner | |||
| Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VI (Hers disease). | Biological sciences | Yoon S. Shin, Shimon W. Moses, Barbara Burwinkel, Henk C. Bakker, Eliezer Herschkovitz, Manfred W. Kilimann | |||
| Mutations in the myosin VIIA gene cause a wide phenotypic spectrum , including atypical Usher syndrome. | Biological sciences | James Walsh, Karen P. Steel, Steve D.M. Brown, Xue-Zhong Liu, Carolyn Hope, Valerie Newton, Xiao Mei Ke, Chuan Yu Liang, Li Ron Xu, Jiu Mi Zhou, Dorothy Trump, Sarah Bundey | |||
| Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. | Biological sciences | Mariano Rocchi, Massimo Zeviani, Brunella Franco, Thomas Meitinger, Paolo Gasparini, Valeria Tiranti, Enrico Bertini, Carlo Dionisi-Vici, Konstanze Hoertnagel, Rosalba Carrozzo, Claudia Galimberti, Monica Munaro, Matteo Granatiero, Leopoldo Zelante, Rosalia Marzella, M. Pilar Bayona-Bafaluy, Jose-Antonio Enriquez, Graziella Uziel | |||
| Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly.(Statistical Data Included) | Biological sciences | Sven Enerback, Peter Carlsson, Tsutomu Kume, Robert Ritch, William Pearce, Jean Morissette, Douglas B. Gould, Vincent Raymond, Tim Jordan, Michael A. Walter, Alan J. Mears, Farideh Mirzayans, Stephane Dubois, Michael Parlee, Banjamin Koop, Wen-Lin Kuo, Colin Collins, Jody Marshall, Shomi Bhattacharya, Brigid Hogan | |||
| NAGLU mutations underlying Sanfilippo syndrome type B. | Biological sciences | Elizabeth F. Neufeld, David Greenberg, Yan Huang, Chester B. Whitley, Artur Schmidtchen, Hong G. Zhao, Hong Hua Li, Phuong Tieu, Hui-Zhi Zhao, Samson Cheng, Zhaoyang Zhao, Paola Di Natale | |||
| Nearby stop codons in exons of the nerofibromatosis type 1 gene are disparate splice effectors. | Biological sciences | Peter Nurnberg, Sven Hoffmeyer, Heide Ritter, Raimund Fahsold, Werner Leistner, Dieter Kaufmann, Winfrid Krone | |||
| Neighboring-nucleotide effects on the rates of germ-line single-base-pair substitution in human genes. | Biological sciences | David N. Cooper, Michael Krawczak, Edward V. Ball | |||
| Network analyses of Y-chromosomal types in Europe, Northern Africa, and Western Asia reveal specific patterns of geographic distribution. | Biological sciences | Antonio Alonso, Pedro Moral, Kenneth K. Kidd, Chris Tyler-Smith, Patrizia Malaspina, Fulvio Cruciani, Bianca Maria Ciminelli, Luciano Terrenato, Piero Santolamazza, Juraj Banyko, Radim Brdicka, Oscar Garcia, Carlo Gaudiano, Ginevra Guanti, Joao Lavinha, Madalena Avila, Paola Mandich, Raheel Qamar, Syed Q. Mehdi, Angela Ragusa, Gheorghe Stefanescu, Maria Caraghin, Rosaria Scozzari, Andrea Novelletto | |||
| New aspects of an old theme: the genetic basis of human color vision.(Genetics of Perception '98) | Biological sciences | Bernd Wissinger, Lindsay T. Sharpe | |||
| Nm23-H1: genetic alterations and expression patterns in tumor metastasis.(Cancer Genetics '98) | Biological sciences | Melanie T. Hartsough, Patricia Steeg | |||
| No evidence for significant linkage between bipolar affective disorder and chromosome 18 pericentromeric markers in a large series of multiplex extended pedigrees. | Biological sciences | Jurg Ott, Jean Endicott, Miron Baron, Bernard Lerer, T. Conrad Gilliam, James A. Knowles, Peter A. Rao, Tara Cox-Matise, Jo Ellen Loth, Gracielle M. de Jesus, Laura Levine, Kamna Das, Graciela K. Penchaszadeh, Joyce R. Alexander | |||
| Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense.(Statistical Data Included) | Biological sciences | Jouni Uitto, Leena Pulkkinen, Leena Bruckner-Tuderman, Fatima Rouan, Robert Wallerstein, Maria Garzon, Tod Brown, Lynne Smith, William Carter | |||
| Novel molecular variants of the Na-K-2C cotransporter gene are responsible for antenatal Bartter syndrome. | Biological sciences | ||||
| Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. | Biological sciences | D.J. Harris, S.D. Smith, P.M. Kelley, B.C. Comer, J.W. Askew, T. Fowler, W.J. Kimberling | |||
| NTBC and alkaptonuria. | Biological sciences | William A. Gahl, William L. Nyhan, Yair Anikster | |||
| Nuclear transport: run by Ran?(Nuclear Structure '98) | Biological sciences | Mary Dasso, Robert T. Pu | |||
| OA1 (ital) mutations and deletions in X-linked ocular albinism. | Biological sciences | Mei Gao, Athel Hockey, Kenneth K. Kidd, Richard A. Lewis, Graham E. Quinn, Joseph Wagstaff, Margaret Keller, Alex V. Levin, Rhonda E. Schnur, Penelope A. Wick, Paul J. Benke, Matthew J. Edwards, Arthur W. Grix, Jack H. Jung, Mildred Kistenmacher, Maria A. Musarella, Rod W. Nowakowski, Seth J. Orlow, De-Ann M. Pillers, Hope H. Punnett, Kamer Tezcan, Richard G. Weleber, Roberta S. Pagon | |||
| One fewer worry for survivors of childhood cancer. | Biological sciences | J.M. Friedman | |||
| On the probabilities of identity states in permutable populations.(response to E. Genin and F. Clerget-Darpoux in American Journal of Human Genetics, vol. 59, p. 1149, 1996.) | Biological sciences | ||||
| Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxyl-terminal domain. | Biological sciences | Karin Gaudenz, Brunella Franco, Andrea Ballabio, Eugenio Montini, Maximilian Muenke, Erich Roessler, Nandita Quaderi, George Feldman, David L. Gasser, Barbel Wittwer, John M. Opitz | |||
| Optimal ascertainment strategies to detect linkage to common disease. | Biological sciences | Elliot S. Gershon, Lynn R. Goldin, Judith A. Badner | |||
| Paraoxonase-gene polymorphisms associated with coronary heart disease: support for the oxidative damage hypothesis? | Biological sciences | Aldons J. Lusis, Jay W. Heinecke | |||
| Parental origin-dependent, male offspring-specific transmission-ratio distortion at loci on the human X chromosome. | Biological sciences | D.F. Barker, K. Morgan, M. Leppert, A.K. Naumova, C. Sapienza | |||
| Paternal uniparental disomy for chromosome 1 revealed by molecular analysis of a patient with pycnodysostosis. | Biological sciences | Robert J. Desnick, Judith P. Willner, Bruce D. Gelb, Alain Verloes, Teresa M. Dunn, Nataline B. Kardon, Jacques Poncin | |||
| PedCheck: a program for identification of genotype incompatibilities in linkage analysis. | Biological sciences | Daniel E. Weeks, Jeffrey R. O'Connell | |||
| Pedigrees - publish? or perish the thought?(Human Genetics '98: Ethical Issues in Genetics)(Editorial) | Biological sciences | Peter H. Byers, John Ashkenas | |||
| Pelizaeus-Merzbacher disease: identification of Xq22 proteolipid-protein duplications and characterization of breakpoints by interphase FISH. | Biological sciences | David Vetrie, Sue Malcolm, Karen Woodward, Elaine Kendall | |||
| Pharmacogenetics of cancer therapy: getting personal.(Cancer Genetics '98) | Biological sciences | William E. Evans, Eugene Y. Krynetski | |||
| Phenotype-genotype relationships in complementation group 3 of the peroxisome-biogenesis disorders.(Statistical Data Included) | Biological sciences | Chia-Che Chang, Stephen J. Bould | |||
| Polymorphic detection of a parthenogenetic maternal and double paternal contribution to a 46,XX/46,XY hermaphrodite. | Biological sciences | Cisca Wijmenga, Peter L. Pearson, Jacques C. Giltay, Hans Kristian Ploos van Amstel, Tibor Brunt, Frits A. Beemer, Jan-Maarten Wit | |||
| Power, mode of inheritance, and Type I error in LOD scores and affecteds-only methods: reply to Kruglyak.(L. Kruglyak, American Journal of Human Genetics, vol. 61, p. 254, 1997) | Biological sciences | David A. Greenberg, Veronica J. Vieland, Susan E. Hodge, M. Anne Spence | |||
| Predisposing gene for early-onset prostate cancer, localized on chromosome 1q42.2-43. | Biological sciences | Norman J. Maitland, Daniel Cohen, Ilya Chumakov, Philippe Millasseau, Rosette Lidereau, Walther Vogel, Lucien Bachner, Annick Cohen-Akenine, Nadine Cohen, Philippe Berthon, Antoine Valeri, Eric Drelon, Thomas Paiss, Gudrun Wohr, Alain Latil, Imene Mellah, Helene Blanche, Christine Bellane-Chantelot, Florence Demaenais, Pierre Teillac, Alain Le Duc, Robert de Petriconi, Richard Hautmann, Georges Fournier, Philippe Mangin, Olivier Cusssenot | |||
| Prenatal screening for cystic fibrosis carriers: an economic evaluation. | Biological sciences | Robert M. Kaplan, Starlene Loader, Peter T. Rowley | |||
| Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter. | Biological sciences | Andrew P. Jackson, C. Geoffrey Woods, Gulshan Karbani, Hussain Jafri, Jovaria Mannan, Duncan P. McHale, Robert F. Mueller, Alexander F. Markham, Nicholas J. Lench, David A. Campbell, Yasmin Rashid, Peter Corry, Malcom I. Levene | |||
| Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis. | Biological sciences | Tze K. Lau, Christopher J. Haines, Y.M. Dennis Lo, Philip J. Johnson, Allan M.Z. Chang, N. Magnus Hjelm, Priscilla M.K. Poon, James S. Wainscoat, Mark S.C. Tein, Tse N. Leung | |||
| Refined genetic mapping of the Darier locus to a <1-cM region of chromosome 12q24.1, and construction of a complete, high-resolution P1 artificial chromosome/bacterial artificial chromosome contig of the critical region. | Biological sciences | Anthony P. Monaco, Roger Cox, Mark Lathrop, Sarah Monk, Alain Hovnanian, Anavaj Sakuntabhai, Simon A. Carter, Steven D. Bryce, Louise Harrington, Elaine Levy, Victor L. Ruiz-Perez, Eleni Katsantoni, Ahmer Kodvawala, Colin S. Munro, Susan Burge, Marc Larregue, Gyula Nagy, Jonathan L. Rees, Tom Strachan | |||
| Renpenning syndrome maps to Xp11.(X-linked mental retardation) | Biological sciences | Herbert A. Lubs, Charles E. Schwartz, Roger E. Stevenson, J. Fernando Arena, Elizabeth Ouzts, Alice Gibson, M.H.K. Shokeir, Cindy Vnencak-Jones, M. May | |||
| Replicative senescence in the immune system: impact of the Hayflick limit on T-cell function in the elderly.(Human Genetics '98: Aging and Senescence) | Biological sciences | Rita B. Effros | |||
| Rethinking risks to human subjects in genetic research.(Editorial) | Biological sciences | Philip R. Reilly | |||
| Robustness and power of the maximum-likelihood-binomial and maximum-likelihood-score methods, in multipoint linkage analysis of affected-sibship data. | Biological sciences | Laurent Abel, Bertram Muller-Myhsok | |||
| RSH/Smith-Lemli-Opitz syndrome: mutations and metabolic morphogenesis. | Biological sciences | Richard I. Kelley | |||
| Search for a founder mutation in idiopathic focal dystonia from northern Germany.(Statistical Data Included) | Biological sciences | Christine Klein, Neil J. Risch, Laurie J. Ozelius, Johann Hagenah, Xandra O. Breakerfield, Peter Vieregge | |||
| Segregation of a PRKCG mutation in two RP11 families.(retinitis pigmentosa) | Biological sciences | Tony Moore, Chris F. Inglehearn, Alan C. Bird, Shomi S. Bhattacharya, Mai Al-Maghtheh, Eranga N. Vithana | |||
| Sequence analysis and homology modeling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome P3401B1. | Biological sciences | Glen Brice, Mansoor Sarfarazi, Richard A. Lewis, Ivaylo Stoilov, A. Nurten Akarsu, Ihuoma Alozie, Anne Child, Magda Barsoum-Homsy, M. Erol Turacli, Meral Or, Nusret Ozdemir, S. Gulderen Aktan, Line Chevrette, Miguel Coca-Prados | |||
| Sequence homology between 4qter and 10qter loci facilitates the instability of subtelomeric Kpn (ital) I repeat units implicated in facioscapulohumeral muscular dystrophy. | Biological sciences | S. Cacurri, N. Piazzo, G. Deidda, E. Vigneti, G. Galluzzi, L. Colantoni, B. Merico, E. Ricci, L. Felicetti | |||
| Significance levels in complex inheritance. | Biological sciences | Newton E. Morton | |||
| Simple, robust linkage tests for affected sibs. | Biological sciences | Alice S. Whittemore, I-Ping Tu | |||
| Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene. | Biological sciences | Jan A.M. Smeitink, Ronald J.A. Wanders, Hans R. Waterham, Frits A. Wijburg, Raoul C.M. Hennekam, Marinus Duran, Ron A. Wevers, Peter Vreken, Bwee Tien Poll-The, Lambertus Dorland, Petr E. Jira | |||
| Somatic mosaicism: a common cause of classic disease in tumor-prone syndromes? Lessons from type 2 neurofibromatosis. | Biological sciences | A.J. Wallace, D.G.R. Evans, C.L. Wu, L. Trueman, R.T. Ramsden, T. Strachan | |||
| Some underlooked properties of the multifactorial/threshold model.(congenital malformations) | Biological sciences | F. Clarke Fraser | |||
| Spectrum and frequency of Jagged 1 (ital) (JAG1(ital)) mutations in Alagille syndrome patients and their families. | Biological sciences | Ian D. Krantz, David A. Piccoli, Nancy B. Spinner, Raymond P. Colliton, Anna Genin, Elizabeth B. Rand, Linheng Li | |||
| Splice-site mutations: a novel genetic mechanism of Crigler-Najjar syndrome type 1. | Biological sciences | Piter J. Bosma, Jayanta Roy Chowdhury, Shailaja Gantla, Namita Roy Chowdhury, Conny T.M. Bakker, Bishram Deocharan, Narsing R. Thummala, Jeffry Zweiner, Maarten Sinaasappel | |||
| Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis. | Biological sciences | Ans M.W. van den Ouweland, Robert D. Nicholls, Marc Lalande, Bernhard Horsthemke, Pascale Hilbert, Sue Malcolm, Markus M. Nothen, Peter Meinecke, Gabriele Gillessen-Kaesbach, Andre Reis, Gert Matthijs, Dicky J.J. Halley, Karin Buiting, Barbel Dittrich, Stephanie Gross, Christina Lich, Claudia Farber, Tina Buchholz, Ellie Smith, Joachim Burger, Ulli Barth-Witte, Bart Janssen, Dvorah Abeliovich, Israela Lerer, Connie Schrander-Stumpel, Hubert Smeets, Anne Gardner, Kathie Friend, Astrid Schulze, Hannaleena Kokkonen, Lionel Van Maldergem, Guillermo Glover, Pablo Carbonell, Patrick Willems | |||
| Statistical evaluation of age-at-onset anticipation: a new test and evaluation of its behavior in realistic applications. | Biological sciences | Jian Huang, Veronica J. Vieland | |||
| Strategies for rare-event detection: an approach for automated fetal cell detection in maternal blood.(Statistical Data Included) | Biological sciences | Humphrey H.H. Kanhai, Hans Vrolijk, Jan C. Oosterwijk, Wilma E. Mesker, Hans J. Tanke, Cecile F.H.M. Knepfle, Willem C.R. Sloos, Hans Pattenier, Ilya Ravkin, Gert-Jan B. van Ommen | |||
| Structure, organization, and dynamics of promyelocytic leukemia protein nuclear bodies.(Nuclear Structure '98) | Biological sciences | David Grimwade, Maria Hodges, Catherine Tissot, Kathy Howe, Paul S. Freemont | |||
| Support for a chromosome 18p locus conferring susceptibility to functional psychoses in families with schizophrenia, by association and linkage analysis. | Biological sciences | Wolfgang Maier, Bernard Lerer, Michael Knapp, Sibylle G. Schwab, Joachim Hallmayer, Margot Albus, Margitta Borrmann, Sabine Honig, Marcel Strauss, Ronnen Segman, Dirk Lichtermann, Matyas Trixler, Dieter B. Wildenauer | |||
| Susceptibility to relapsing-progressive multiple sclerosis is associated with inheritance of genes linked to the variable region of the TcR beta locus: use of affected family-based controls. | Biological sciences | Michael K. Hockertz, Donald W. Paty, Steven S. Beall | |||
| Swyer syndrome and 46,XY partial gonadal dysgenesis associated with 9p deletions in the absence of monosomy-9p syndrome. | Biological sciences | R. Rappaport, R.A. Veitia, M. Nunes, L. Quintana-Murci, E. Thibaud, F. Jaubert, M. Fellous, K. McElreavey, J. Goncalves, M. Silva, J. Cidade Rodrigues, M. Caspurro, F. Boieiro, R. Marques, J. Lavinha | |||
| Syndromic ectrodactyly with severe limb, ectodermal, urogenital, and palatal defects maps to chromosome 19. | Biological sciences | Lynn B. Jorde, Raoul C.M. Hennekam, Michael Bamshad, Janis R. O'Quinn | |||
| Systematic analysis of hMSH2 and hMLH1 in young colon cancer patients and controls. | Biological sciences | David J. Robbins, Malcolm G. Dunlop, Susan M. Farrington, Juili Lin-Goerke, Jessica Ling, Yute Wang, John D. Burczak | |||
| Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropietic protoporphyria. | Biological sciences | U.B. Rufenacht, L. Gouya, X. Schneider-Yin, H. Puy, B.W. Schafer, R. Aquaron, Y. Nordmann, E.I. Minder, J.C. Deybach | |||
| The Ashkenazic Jewish Bloom syndrome mutation blm (super.Ash)(ital) is present in non-Jewish Americans of Spanish ancestry.(Statistical Data Included) | Biological sciences | David Lennon, Joanna Groden, Nathan A. Ellis, Susan Ciocci, Maria Proytcheva, James German | |||
| The Bjornstad syndrome (sensorineural hearing loss and pili torti) disease gene maps to chromosome 2q34-36. | Biological sciences | J.G. Seidman, Christine E. Seidman, Roland D. Eavey, Leonard Lu, Somkiat Sangwatanaroj, Jose Faibes Lubianca Neto, Marco Antonio Macias Flores, Raul Martinez Caldera, Jean Jacques Schott, Barbara McDonogh, Jose Ignatio Santos | |||
| The DMPK gene of severely affected myotonic dystrophy patients is hypermethylated proximal to the largely expanded CTG repeat. | Biological sciences | Michael Wolf, Peter Steinbach, Dieter Glaser, Walther Vogel, Sabine Schwemmle | |||
| The effect of family structure on linkage tests using allelic association. | Biological sciences | J.C. Whittaker, C.M. Lewis | |||
| The first nuclear-encoded complex I mutation in a patient with Leigh syndrome. | Biological sciences | Ben Hamel, Lambert van den Heuvel, Roel Smeets, Jan Loeffen, Frans Trijbels, Jan Smeitink, Ralf Triepels, Markus Schulke, Rob Sengers, Renier Mullaart | |||
| The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure. | Biological sciences | Pragna I. Patel, Tetsuo Ashizawa, Sanjay I. Bidichandani | |||
| The gene for glycogen-storage disease type 1b maps to chromosome 11q23.() | Biological sciences | Hanna Mandel, Mihael H. Polymeropoulos, Ruti Parvari, Borhane Annabi, Hisayuki Hiraiwa, Brian C. Mansfield, Ke-Jian Lei, Tsuneyuki Ubagai, Shimon W. Moses, Eli Hershkovitz, Moshe Fryman, Janice Yang Chou | |||
| The gene for human fibronectin glomerulopathy maps to 1q32, in the region of the regulation of complement activation gene cluster.(Statistical Data Included) | Biological sciences | Franz Ruschendorf, Andre Reis, Friedhelm Hildebrandt, Martin Vollmer, Martin Jung, Rainer Ruf, Thomas Wienker, Reto Krapf | |||
| The gene for severe combined immunodeficiency disease in Athabascan-speaking Native Americans is located on chromosome 10p. | Biological sciences | Anthony Hayward, Diana Hu, Morton J. Cowan, Dennis Drayna, Lanying Li, Shiela Gahagan, Henry Pabst | |||
| The genetics of cataract: our vision becomes clearer.(Editorial) | Biological sciences | J. Fielding Hejmancik | |||
| The genetics of cellular senescence.(Insights from Model Systems)(includes related article) | Biological sciences | James R. Smith, Nathalie G. Berube, Olivia M. Pereira-Smith | |||
| The haptoglobin-gene deletion responsible for anhaptoglobinemia. | Biological sciences | Hiroshi Kimura, Yoshiro Koda, Mikiko Soejima, Naofumi Yoshioka | |||
| The hemochromatosis 845 G-->A and 187 C-->G mutations: prevalence in non-Caucasian populations. | Biological sciences | Xiaojiang Gao, Simon Easteal, Elizabeth C. Jazwinska, Lara M. Cullen | |||
| The myoclonic epilepsy and ragged-red fiber mutation provides new insights into human mitochondrial function and genetics.(Mitochondrial Genetics '98) | Biological sciences | Anne Chomyn | |||
| The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G (sub 3097) --> T transversion in NPC1. | Biological sciences | W.L. Greer, D.C. Riddell, T.L. Gillan, G.S. Girouard, S.M. Sparrow, D.M. Byers, M.J. Dobson, P.E. Neumann | |||
| The power to detect linkage in complex disease by means of simple LOD-score analyses. | Biological sciences | David A. Greenberg, Paula Abreu, Susan E. Hodge | |||
| The quantitative LOD score: test statistic and sample size for exclusion and linkage of quantitative traits in human sibships. | Biological sciences | Eric Boerwinkle, Christopher I. Amos, Grier P. Page | |||
| The spreading of X-inactivation into autosomal material of an X;autosome translocation: evidence for a difference between autosomal and X-chromosomal DNA. | Biological sciences | Huntington F. Willard, Daniel L. Van Dyke, Wendy M. White, Daynna J. Wolff | |||
| The timing of twinning: more insights from X-inactivation. | Biological sciences | Jennifer M. Puck | |||
| The Tpr protein: linking structure and function in the nuclear interior?(Nuclear Structure '98) | Biological sciences | Michael R. Paddy | |||
| The tumor-suppressor function of E-cadherin.(Insights from Model Systems)(includes related article on a transgenic mouse tumor progression model) | Biological sciences | Henrik Semb, Gerhard Christofori | |||
| Topoisomerase I and II consensus sequences in a 17-kb deletion junction of the COL4A5 and COL4A6 genes and immunohistochemical analysis of esophageal Leiomyomatosis associated with Alport syndrome. | Biological sciences | Hiroshi Sato, Fumiaki Sasaki, Takashi Sawai, Yasuyoshi Ueki, Ichiro Naito, Toshitaka Oohashi, Manabu Sigimoto, Tsugio Seki, Hidekatsu Yoshioka, Roshikazu Sado, Mitsumasa Matsuoka, Seiji Fukuda, Yoshifumi Ninomiya | |||
| Trading genes along the silk road: mtDNA sequences and the origin of Central Asian populations.(Statistical Data Included) | Biological sciences | Davide Pettener, Rosa Martinez-Arias, David Comas, Fiorenzo Facchini, Giovanni Fiori, Francesc Calafell, Eva Mateu, Lezaun Pereez Anna, Elena Bosch, Jordi Clarimon, Donata Luiselli, Jaume Bertranpetit | |||
| Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxylbutyric aciduria). | Biological sciences | Cornelis Jakobs, K. Michael Gibson, Patrizia Malaspina, Andrea Novelletto, Ken L. Chambliss, Debra D. Hinson, Flavia Trettel | |||
| Uniparental disomies in unselected populations.(Editorial) | Biological sciences | Eric Engel | |||
| Use of parents, sibs, and unrelated controls for detection of associations between genetic markers and disease.(Statistical Data Included) | Biological sciences | Daniel J. Schaid, Charles Rowland | |||
| Using neural networks as an aid in the determination of disease status: comparison of clinical diagnosis to neural-network predictions in a pedigree with autosomal dominant limb-girdle muscular dystrophy. | Biological sciences | Marcy C. Speer, Margaret Pericak-Vance, Catherine T. Falk, James M. Gilchrist | |||
| Van Buchem disease (hyperostosis corticalis generalisata) maps to chromosome 17q12-q21. | Biological sciences | Patrick J. Willems, Guy Van Camp, Filip Vanhoenacker, Wim Van Hul, Wendy Balemans, Els Van Hul, Frederik G. Dikkers, Henk Obee, Robert J. Stokroos, Peter Hildering | |||
| Variability in immune response to pathogens: using measles vaccines to probe immunogenetic determinants to response. | Biological sciences | Gregory A. Poland | |||
| Vocal cord and pharyngeal weakness with autosomal dominant distal myopathy: clinical description and gene localization to 5q31.(Statistical Data Included) | Biological sciences | Charles E. Jackson, Jacques S. Beckmann, Guy A. Rouleau, Eric Seboun, Howard Feit, Alice Silbergleit, Lori B. Schneider, Jorge A. Gutierrez, Reine-Paule Fitoussi, Cecile Reyes, Bernard Brais | |||
| "Well-bear and well-rear" in China?(eugenics)(Editorial) | Biological sciences | B.M. Knoppers | |||
| Worldwide distribution of a common methylenetetrahydrofolate reductase mutation. | Biological sciences | Julie A. Schneider, David C. Rees, Yan-Tat Liu, John B. Clegg | |||
| X-chromosome inactivation in carriers of Barth syndrome.(Statistical Data Included) | Biological sciences | Agi Gedeon, Karen Helene Orstavik, Daniela Toniolo, Ragnhild E. Orstavik, Anna K. Naumova, Patrizia D'Adamo, Pieter A. Bolhuis, Peter G. Barth | |||
| X-chromosome inactivation spreads itself: effects in autosomes.(Editorial) | Biological sciences | Mary F. Lyon | |||
| X-linked chronic granulomatous disease: mutations in the CYBB (ital) gene encoding the gp91-phox(ital) component of respiratory-burst oxidase. | Biological sciences | Peter E. Newburger, Mary C. Dinauer, Julie Rae, Deborah Noack, Penelope J. Hopkins, Ryoko Kuruto, John T. Curnutte | |||
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