American Journal of Human Genetics 1999 - Abstracts
| American Journal of Human Genetics 1999 | |||||
| Title | Subject | Authors | |||
|---|---|---|---|---|---|
| 1998 ASHG Award for Excellence in Education: Professor Ching Chun Li, courageous scholar and educator.(American Association of Human Genetics) | Biological sciences | Aravinda Chakravarti | |||
| A chromosomal duplication map of malformations: regions of suspected haplo- and triplolethality - and tolerance of segmental aneuploidy - in humans. | Biological sciences | Carole Brewer, Susan Holloway, Paul Zawalnyski, Albert Schinzel, David FitzPatrick | |||
| A comprehensive linkage analysis of chromosome 21q22 supports prior evidence for a putative bipolar affective disorder locus. | Biological sciences | Jean Endicott, Miron Baron, Bernard Lerer, Vincent M. Aita, T. Conrad Gilliam, Joseph D. Terwilliger, James A. Knowles, Jo Ellen Loth, Jianjun Liu, Romulo Baltazar, Adina Grunn, Kyra Kanyas, Zhenyuan Wang, Graciela Penchaszadeh | |||
| Age estimates of two common mutations causing factor XI deficiency: recent genetic drift is not necessary for elevated disease incidence among Ashkenazi Jews. | Biological sciences | Uri Seligsohn, David E. Reich, David B. Goldstein, Neil Bradman, Sali Usher, Hava Peretz | |||
| A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3. | Biological sciences | Andrew T. Hattersley, Timothy M. Frayling, Sian Ellard, Peter D. Turnpenny, Michael P. Bulman, Tewfiq K. Abu-Nastra, Christine Garrett | |||
| A gene for autosomal recessive symmetrical spastic cerebral palsy maps to chromosome 2q23-25. | Biological sciences | S. Mitchell, C.G. Woods, D.A. Campbell, R.F. Mueller, N.J. Lench, A.F. Markham, D.P. McHale, S. Bundey, L. Moynihan | |||
| A gene for fluctuating, progressive autosomal dominant nonsyndromic hearing loss, DFNA16, maps to chromosome 2q23-24.3. | Biological sciences | Richard J.H. Smith, Guy Van Camp, Yoshifumi Ninomiya, Kunihiro Fukushima, Norio Kasai, Yasuyoshi Ueki , Kazunori Nishizaki, Kennichi Sugata, Satoshi Hirakawa, Akemi Masuda, Mehmet Gunduz, Yu Masuda, Minako Sato, Wyman T. McGuirt, Paul Coucke | |||
| A gene for inherited cutaneous venous anomalies ("Glomangiomas") localizes to chromosome 1p21-22. | Biological sciences | Bjorn R. Olsen, Laurence M. Boon, Matthew L. Warman, John B. Mulliken, Miikka Vikkula, Pascal Brouillard, Alexandre Irrthum, Leena Karttunen, Ross Rudolph | |||
| A gene for lymphedema-distichiasis maps to 16q24.3.(Statistical Data Included) | Biological sciences | J. Mangion, N. Rahman, S. Mansour, G. Brice, J. Rosbotham, A.H. Child, V.A. Murday, P.S. Mortimer, R. Barfoot, A. Sigurdsson, S. Edkins, M. Sarfarazi, K. Burnand, A.L. Evans, T.O. Nunan, M.R. Stratton, S. Jeffery | |||
| A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3. | Biological sciences | Asmae Smahi, Arnold Munnich, Josseline Kaplan, Annick Cabot, Jean-Michel Rozet, Sylvie Gerber, Isabelle Perrault, Dominique Ducroq, Eric Souied | |||
| A genome scan for familial combined hyperlipidemia reveals evidence of linkage with a locus on chromosome 11.(Statistical Data Included) | Biological sciences | Hooman Allayee, Rita M. Cantor, Bradley E. Aouizerat, Christopher D. Lanning, Tjerk W.A. de Bruin, Richard C. Davis, Ping-Zi Wen, Geesje Dallinga-Thie, Ferome I. Rotter, Aldons Lusis | |||
| A genomewide analysis provides evidence for novel linkages in inflammatory bowel disease in a large European cohort. | Biological sciences | Alan Buckler, Mark E. Curran, Sander J.H. van Deventer, Stefan Schreiber, Lon R. Cardon, Peter Nurnberg, John E. Lennard-Jones, Jochen Hampe, Sarah H. Shaw, Kit F. Lau, Stephen Bridger, Andrew J.S. Macpherson, Hakan Sakul, Timothy J.R. Harris, Jeff Hall, Pieter Stokkers, Mudassar M. Mirza, John C.W. Lee, Chris G. Mathew | |||
| A genomic screen of autism: evidence for a multilocus etiology.(Statistical Data Included) | Biological sciences | Donna Spiker, Carmen Pingree, P. Brent Petersen, Helena C. Kraemer, Neil Risch, Richard M. Myers, L. Luca Cavalli-Sforza, Joachim Hallmayer, Luba Kalaydjieva, Linda Lotspeich, Nassim Nouri, David Hinds, Patty McCague, Sue Dimiceli, Tawna Pitts, Loan Nguyen, Joan Yang, Courtney Harper, Danielle Thorpe, Saritha Vermeer, Helena Young, Joan Hebert, Alice Lin, Joan Ferguson, Carla Chiotti, Susan Wiese-Slater, Tamara Rogers, Boyd Salmon, Peter Nicholas, William McMahon, Dona L. Wong | |||
| Allowing for missing parents in genetic studies of case-parent triads. | Biological sciences | C.R. Weinberg | |||
| A locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 1q21.2-q21.3.(Statistical Data Included) | Biological sciences | Alexis Brice, Johann Tassin, Ahmed Bouhouche, Ali Benomar, Nazha Birouk, Angelique Mularoni, Farid Meggouh, Djamal Grid, Antoon Vandenberghe, Mohamed Yahyaoui, Taieb Chkili, Eric LeGuern | |||
| A locus for isolated cleft palate, located on human chromosome 2q32.(Statistical Data Included) | Biological sciences | David R. FitzPatrick, David T. Bonthron, Susan Holloway, Alexander F. Markham, Carole M. Brewer, Jack P. Leek, Andrew J. Green | |||
| A loss-of-function model for cystogenesis in human autosomal dominant polycystic kidney disease type 2.(Statistical Data Included) | Biological sciences | Xavier Estivill, Celia Badenas, Roser Torra, Jose L. San Millan, Laureano Perez-Oller, Alejandro Darnell | |||
| A major quantitative-trait locus for mole density is linked to the familial melanoma gene CDKN2A (ital): a maximum-likelihood combined linkage and association analysis in twins and their sibs.(Statistical Data Included) | Biological sciences | Michael C. Neale, Nicholas G. Martin, Joanne F. Aitken, David L. Duffy, Nicholas K. Hayward, Gu Zhu, Ann Eldridge, Marlene Grace, Carol Mayne, Louise O'Gorman, Adele C. Green | |||
| Analysis of affected sib pairs, with covariates--with and without constraints. | Biological sciences | Shelley B. Bull, Celia M.T. Greenwood | |||
| Analysis of alkaptonuria (AKU) mutations and polymorphisms reveals that the CCC sequence motif is a mutational hot spot in the homogentisate 1,2 dioxygenase gene (HGO) (ital). | Biological sciences | R. Aquaron, D. Beltran-Valero de Bernabe, F.J. Jimenez, S. Rodriguez de Cordoba | |||
| Analysis of chromosome 1q42.2-43 in 152 families with high risk of prostate cancer. | Biological sciences | Janet L. Stanford, Leroy Hood, Elaine A. Ostrander, Gail P. Jarvik, Mark Gibbs, Suzanne Kolb, Ellen L. Goode, Lisa Chakrabarti, Valerie A. Buckley, Eugene F. Schuster, Morgan Shook | |||
| Ancestral Asian source(s) of New World Y-chromosome founder haplotypes. | Biological sciences | A.R. Templeton, T.M. Karafet, S.L. Zegura, O. Posukh, L. Osipova, A. Bergen, Long J., D. Goldman, W. Klitz, S. Harihara, P. de Knijff, V. Wiebe, R.C. Griffiths, M. F. Hammer | |||
| Ancestral origins and worldwide distribution of the PRNP 200K mutation causing familial Creutzfeldt-Jakob disease. | Biological sciences | Hee Suk Lee, Lev G. Goldfarb, Amos D. Korczyn, Maurizio Pocchiari, Paul (American football coach) Brown, D. Carleton Gajdusek, Nyamkhishig Sambuughin, Larisa Cervenakova, Jeffrey C. Long, Joab Chapman, Svetlana Litvak, Hai Yan Qi, Herbert Budka, Teodoro del Ser, Hisako Furukawa | |||
| A new locus for autosomal dominant "pure" hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneity.(Statistical Data Included) | Biological sciences | E. Reid, A.M. Dearlove, M. Rhodes, D.C. Rubinsztein | |||
| A new locus for autosomal dominant Stargardt-like disease maps to chromosome 4. | Biological sciences | Min Han, Marina Kniazeva, Michael F. Chiang, Basil Morgan, Alfred L. Anduze, Donald J. Zack, Kang Zhang | |||
| An extreme-sib-pair genome scan for genes regulating blood pressure. | Biological sciences | Nicholas J. Schork, Scott Weiss, Henry A. Terwedow, Binyan Wang, Changzhong Chen, Jianhua Yang, Zhian Fang, Xiping Xu, John J. Rogus, Zhaoxi Wang, Tianhua Niu, Hengqiu Xu | |||
| An mtDNA analysis in ancient Basque populations: implications for haplogroup V as a marker for a major paleolithic expansion from Southwestern Europe. | Biological sciences | N. Izagirre, C. De la Rua | |||
| An mtDNA mutation in the initiation codon of the cytochrome C oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy. | Biological sciences | Nicholas W. Wood, Douglass M. Turnbull, Robert N. Lightowlers, Robert W. Taylor, Margaret A. Johnson, Patrick F. Chinnery, Kim M. Clark, Zofia M.A. Chrzanowska-Lightowlers, Richard M. Andrews, Isobel P. Nelson, Phillipa J. Lamont, Michael G. Hanna | |||
| A note on power approximations for the transmission/disequilibrium test. | Biological sciences | Michael Knapp | |||
| A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene. | Biological sciences | William R. Wilcox, Leslie M. Thompson, John J. Wasmuth, Clair A. Francomano, Gary A. Bellus, Iain McIntosh, Patricia L. Tavormina, Melanie K. Webster, Micahel J. Bamshad, Alexander E. Fraley, Jinny Szabo, Wen Jiang, Ethylin W. Jabs, Daniel J. Donoghue | |||
| A parametric copula model for analysis of familial binary data. | Biological sciences | Pierre Ducimetiere, Florent Soubrier, Laurence Tiret, David-Alexandre Tregouet, Valery Bocquet, Sophie Visvikis | |||
| A quantitative-trait locus on chromosome 6p influences different aspects of developmental dyslexia. | Biological sciences | Anthony P. Monaco, Simon E. Fisher, Elena Maestrini, Daniel E. Weeks, Angela J. Marlow, Janine Lamb, Dianne F. Williams, Alex Richardson J., John F. Stein | |||
| A second gene for autosomal dominant Mobius syndrome is localized to chromosome 10q, in a Dutch family.(Statistical Data Included) | Biological sciences | B.C.J. Hamel, H.T.F.M. Verzijl, B. van den Helm, B. Veldman, L.P. Kuyt, G.W. Padberg, H. Kremer | |||
| ASHG statement: Eugenics and the misuse of genetic information to restrict reproductive freedom.(from the board of directors of the American Society of Human Genetics.) | Biological sciences | ||||
| A simulation study of the effects of assignment of prior identity-by-descent probabilities to unselected sib pairs, in covariance -structure modeling of a quantitative-trait locus. | Biological sciences | Michael C. Neale, Dorret I. Boomsma, Conor V. Dolan | |||
| Assessing the feasibility of linkage disequilibrium methods for mapping complex traits: an initial screen for bipolar disorder loci on chromosome 18. | Biological sciences | Victor I. Reus, Nelson B. Freimer, Susan K. Service, Lodewijk A. Sandkuijl, Michael A. Escamilla, L. Alison McInnes, Mitzi Spesny, Norito Shimayoshi, David J. Tyler, Sandra Silva, Julio Molina, Alvaro Gallegos, Luis Meza, Maria L Cruz, Steven Batki, Sophia Vinogradov, Thomas Neylan, Jasmine B. Nguyen, Eduardo Fournier, Carmen Araya, Samuel H. Barondes, Pedro Leon | |||
| Assessment of linkage disequilibrium by the decay of haplotype sharing with application to fine-scale genetic mapping.(Statistical Data Included) | Biological sciences | Mary Sara McPeek, Andrew Strahs | |||
| Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping. | Biological sciences | Albert de la Chapelle, Beril Talim, Anna-Elina Lehesjoki, Pirkko Santavuori, Helena Pihko, Bru Cormand, Dristiina Avela, Haluk Topaloglue | |||
| A stop-codon mutation in the human mtDNA cytochrome c (ital) oxidase I gene disrupts the functional structure of complex IV. | Biological sciences | Carolyn M. Sue, Sara Shanske, Eduardo Bonilla, Salvatore DiMauro, Giovanni Manfredi, Jin Fu, Corrado Angelini, Claudio Bruno, Andrea Martinuzzi, Yingying Tang, Antoni L Andreu, Francesco Pallotti | |||
| A test of transmission/disequilibrium for quantitative traits in pedigree data, by multiple regression. | Biological sciences | Varghese George, Robert Elston, Hemant K. Tiwari, Xiaofeng Zhu | |||
| A third major locus for autosomal dominant hypercholesterolemia maps to 1p34.1-p32. | Biological sciences | Catherine Boileau, Claudine Junien, Mathilde Varret, Jean-Pierre Rabes, Bruno Saint-Jore, Ana Cenarro, Jean-Christophe Marinoni, Fernando Civeira, Martine Devillers, Michel Krempf, Monique Coulon, Rochelle Thiart, Maritha J. Kotze, Helena Schmidt, Jean-Claude Buzzi, Gert M. Kostner, Stephano Bertolini, Miguel Pocovi, Alberto Rosa, Michel Farnier, Maria Montoya Martinez | |||
| A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness. | Biological sciences | Kristin Herman, Ethylin Wang Jabs, Margaret J. Kovach, Jing-Ping Lin, Simeon Boyadjiev, Kathleen Campbell, Larry Mazzeo, Lisa A. Rimer, William Frank, Barbara Llewellyn, David Gelber, Virginia E. Kimonis | |||
| Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance. | Biological sciences | Jin Wang, Stephen E. Straus, Stacie M. Anderson, Michael J. Lenardo, Jennifer M. Puck, Thomas A. Fleisher, Michael C. Sneller, Janet K. Dale, Lindsay A. Middelton, Christine E. Jackson, Roxanne E. Fischer, Amy P. Hsu, Youngnim Choi | |||
| Autosomal dominant cerebellar ataxia type III: Linkage in a large British family to a 7.6-cM region on chromosome 15q14-21.3.(Statistical Data Included) | Biological sciences | N.W. Wood, P. Giunti, P.F. Worth, C. Gardner-Thorpe, P.H. Diwon, M.B. Davis | |||
| Autosomal dominant myopathy with proximal weakness and early respiratory muscle involvement maps to chromosome 2q. | Biological sciences | Maria Anvret, Fengqing Xiang, Lars Edstrom, Zhiping Zhang, Piero Nicolao, Lars-Gunnar Gunnarsson, Bruno Giometto | |||
| A worldwide assessment of the frequency of suicide, suicide attempts, or psychiatric hospitalization after predictive testing for Huntington disease. | Biological sciences | Michael R. Hayden, Maurice Bloch, Elisabeth W. Almqvist, Ryan Brinkman, David Craufurd | |||
| Biological implications of the DNA structures associated with diseases causing triplet repeats.(Human Genetics '99: Trinucleotide Repeats)(Human Genetics '99: Nucleotide Repeats) | Biological sciences | Richard R. Sinden | |||
| Blocking Gibbs sampling for linkage analysis in large pedigrees with many loops.(Statistical Data Included) | Biological sciences | Augustine Kong, Claus Skaanning Jensen | |||
| Brachydactyly type B: clinical description, genetic mapping to chromosome 9q, and evidence for a shared ancestral mutation. | Biological sciences | Matthew L. Warman, David Chitayat, Bronwyn Kerr, Yaoqin Gong, Taiping Chen, Riyana Babul-Hirji, Adatiya Pal, Michael Reiss | |||
| Brachydactyly type B: linkage to chromosome 9q22 and evidence for genetic heterogeneity. | Biological sciences | Andrew O.M. Wilkie, Richard J. Gibbons, John Loughlin, Michael Oldridge, I. Karen Temple, Heloisa G. Santos, Zehra Mustafa, Kay E. Chapman | |||
| BRCA1 and BRCA2 testing: weighing the demand against the benefits. | Biological sciences | P. Devilee | |||
| Calpainopathy - a survey of mutations and polymorphisms. | Biological sciences | E. Bakker, H. Topaloglu, I. Richard, C. Roudaut, A. Saenz, R. Pogue, J.E.M.A. Grimbergen, L.V.B. Anderson, C. Beley, A.-M. Cobo, C. de Diego, B. Eymard, P. Gallano, H.B. Ginjaar, A. Lasa, C. Pollitt, J.A. Urtizberea, M. de Visser, A. van der Kooi, K. Bushby, A. Lopez de Munain, M. Fardeau, J.S. Beckmann | |||
| Campomelic dysplasia translocation breakpoints are scattered over 1 Mb proximal to SOX9 (ital): evidence for an extended control region. | Biological sciences | Eric S. Lander, Bruce Birren, Ken Dewar, Gerd Scherer, Dietmar Pfeifer, Ralf Kist, Keri Devon, Lech Korniszewski, Elke Back | |||
| Candidate-gene association studies of schizophrenia.(Psychiatric Genetics '99)(Statistical Data Included) | Biological sciences | M.C. O'Donovan, M.J. Owen | |||
| Characterization and mutation analysis of human LEFTY A (ital) and LEFTY B (ital), homologues of murine genes implicated in left-right axis development. | Biological sciences | K. Kosaki, M.R. Bassi, R. Kosaki, M. Lewin, J. Belmont, G. Schauer, B. Casey | |||
| Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene. | Biological sciences | Henri Plauchu, Veronique Satre, Nicole Monnier, Florence Berthoin, Carmen Ayuso, Alain Joannard, Pierre-Simon Jouk, Isidora Lopez-Pajares, Andre Megabarne, Henri Jean Philippe, Maria Luisa Torres, Joel Lunardi | |||
| Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints.(Statistical Data Included) | Biological sciences | Robert D. Nicholls, Wayne Gottlieb, Peter K. Rogan, Stuart Schwartz, Suzanne B. Cassidy, James M. Amos-Landgraf, Yonggang Ji, Theresa Depinet, Amy E. Wandstrat, Daniel J. Driscoll | |||
| Clear correlation of genotype with disease phenotype in very-long-chain Acyl-CoA dehydrogenase deficiency. | Biological sciences | Andrew Morris, Lodewijk Ijlst, Lisbeth Dahl Schroeder, Niels Gregersen, Brage Storstein Andresen, Simon Olpin, Ben J.H.M. Poorthuis, Hans R. Sholte, Christine Vianey-Saban, Ronald Wanders, Morteza Pourfarzam, Kim Bartlett, E. Regula Baumgartner, Johannis B.C. DeKlerk, Thomas J. Corydon, Hans Lund, Vibeke Winter, Peter Bross, Lars Bolund | |||
| COL9A3: a third locus for multiple epiphyseal dysplasia. | Biological sciences | Petteri Paassilta, Jaana Lohiniva, Martine Le Merrer, Jacky Bonaventure, Leena Ala-Kokko, Susanna Annunen, Lori Pai | |||
| Combined linkage and association sib-pair analysis for quantitative traits. | Biological sciences | D.W. Fulker, S.S. Cherny, P.C. Sham, J.K. Hewitt | |||
| Combined use of biallelic and microsatellite Y-chromosome polymorphisms to infer affinities among African populations.(Statistical Data Included) | Biological sciences | Giovanni Destro-Bisol, David Modiano, Pedro Moral, Douglas C. Wallace, Antonio Torroni, Barbara Arredi, Patrizia Malaspina, Fulvio Cruciani, Piero Santolamazza, Rosaria Scozzari, Andrea Novelletto, Daniele Sellitto, Gianfranco De Stefano, Olga Rickards, Cristina Martinez-Labarga, Gianfranco Biondi, Antonel Olckers | |||
| Combining the sibling disequilibrium test and transmission/disequilibrium test for multiallelic markers. | Biological sciences | David Curtis, Pak C. Sham, Michael B. Miller | |||
| Comparison of linkage-disequilibrium methods for localization of genes influencing quantitative traits in humans. | Biological sciences | Christopher I. Amos, Grier P. Page | |||
| Comparison of the power and accuracy of biallelic and microsatellite markers in population-based gene-mapping methods. | Biological sciences | Li Jin, Momiao Xiong | |||
| Complete genomic structure and mutational spectrum of PHKA2 in patients with X-linked liver glycogenosis Type I and II.(gene encoding liver alpha subunit of phosphorylase kinase) | Biological sciences | Mendel Tuchman, Patrick J. Willems, Philip Lee, Jan Hendrickx, James P. Keating, Dietbrand Carton, Imdadali B. Sardharwalla, Christiane Baussan | |||
| Comprehensive mutation analysis of TSC1 (ital) and TSC2 (ital)--and phenotypic correlations in 150 families with tuberous sclerosis. | Biological sciences | Alistair C. Jones, Magitha M. Shyamsundar, Meinir W. Thomas, Julie Maynard, Shelley Idziaszczyk, Susan Tomkins, Julian R. Sampson, Jeremy P. Cheadle | |||
| Concerted evolution: molecular mechanism and biological implications.(Molecular Evolution '99) | Biological sciences | Daiqing Liao | |||
| Congenital end-plate acetylcholinesterase deficiency caused by a nonsense mutation and an A-->G splice-donor-site mutation at position +3 of the collagenlike-tail-subunit gene (COLQ): How does G at position +3 result in aberrant splicing?(Statistical Data Included) | Biological sciences | ||||
| Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor. | Biological sciences | William (Canadian writer) Gibson, Laszlo Sztriha, Generoso Andria, Sek Mardy, Yuichi Miura, Fumio Endo, Ichiro Matsuda, Philippe Frossard, Allie Moosa, Essam A.R. Ismail, Alfons Macaya, Ennio Toscano, Gail E. Graham, Yasuhiro Indo | |||
| Congenital motor nystagmus linked to Xq26-q27. | Biological sciences | Irene H. Maumenee, M. Michael Barmada, John B. Kerrison, M. Reza Vagefi | |||
| Connexin46 mutations in autosomal dominant congenital cataract. | Biological sciences | Guy Rouleau, Zoha Kibar, Alan Shiels, Donna Mackay, Alexander Ionides, Vanita Berry, Anthony Moore, Shomi Bhattacharya | |||
| Cyclic ichthyosis with epidermolytic hyperkeratosis: a phenotype conferred by mutations in the 2B domain of keratin K1. | Biological sciences | Virginia P. Sybert, Julie S. Francis, Laura D. Corden, Lynne T. Smith, Molly Weaver, Karen Stephens, W.H. Irwin McLean | |||
| Cystic fibrosis as a disease of misprocessing of the cystic fibrosis transmembrane conductance regulator glycoprotein.(Protein Biosynthesis '99) | Biological sciences | John R. Riordan | |||
| Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1. | Biological sciences | Jean-Pierre Fryns, Koenraad Devriendt, Peter Marynen, Marc Gewillig, Karen Brondum-Nielsen, Gert Matthijs, Joris Robert Vermeesch, Roeland Van Dael, Benedicte Eyskens, Helle Hjalgrim, Brigitte Dolmer, Julie McGaughran | |||
| De novo Alu-element insertions in FGFR2 (ital) identify a distinct pathological basis for Apert syndrome. | Biological sciences | David Johnson, Andrew O.M. Wilkie, Stephen R.F. Twigg, Steven A. Wall, Elaine H. Zackai, Michael Oldridge, Wen Jiang, Donna M. McDonald-McGinn, Sachiko Iseki, Gillian M. Morriss-Kay, Christiane Theda, Ethylin Wang Jabs | |||
| Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap in chromosome 22q11. | Biological sciences | B. Funke, L. Edelmann, N. McCain, R.K. Pandita, J. Ferreira, S. Merscher, M. Zohouri, L. Cannizzaro, A. Shanske, B.E. Morrow | |||
| Diaphyseal medullary stenosis with malignant fibrous histiocytoma: a hereditary bone dysplasia/cancer syndrome maps to 9p21-22. | Biological sciences | Robert J. Desnick, Bruce D. Gelb, John A. Martignetti, Elias Aliprandis, Karen I. Norton, Philip Hardcastle, Sydney Nade | |||
| Direct power comparisons between simple LOD scores and NPL scores for linkage analysis in complex diseases.(Statistical Data Included) | Biological sciences | David A. Greenberg, Susan E. Hodge, Paul C. Abreu | |||
| Disequilibrium mapping of a quantitative-trait locus in an expanding population. | Biological sciences | Montgomery Slatkin | |||
| DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of autosomal dominant carpal tunnel syndrome. | Biological sciences | Susan T. Iannaccone, James R. Lupski, Lisa G. Shaffer, Lorraine Potocki, Ken-Shiung Chen, Thearith Koeuth, James Killian, Stuart K. Shapira, Catherine D. Kashork, Aimee S. Spikes | |||
| DNA variation in a 5-Mb region of the X chromosome and estimates of sex-specific/type-specific mutation rates. | Biological sciences | Theodore Anagnostopoulos, Peter M. Green, Gabriella Rowley, Cathryn M. Lewis, Francesco Giannelli | |||
| Dominant hereditary inclusion-body myopathy gene (IBM3) maps to chromosome region 17p13.1. | Biological sciences | Anders Oldfors, Tommy Martinsson, Niklas Darin, Marten Kyllerman, Birgitta Hallberg, Jan Wahlstrom | |||
| Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum.(Statistical Data Included) | Biological sciences | Alexis Brice, Bruno Dubois, Thierry Frebourg, Agnes Michon, Christiane Penet, Maria Montoya Martinez, Dominique Campion, Cecile Dumanchin, Didier Hannequin, Serge MElliard, Michele Puel, Catherine Thomas-Anterion, Cosette Martin, Francoise Charbonnier, Gregory Raux, Agnes Camuzat, Valerie Mesnage, Clerget Clerget-Darpoux | |||
| Evaluation of parental mitochondrial inheritance in neonates born after intracytoplasmic sperm injection.(Statistical Data Included) | Biological sciences | Philippe Duquesnoy, Michel Goossens, Andre Van Steirteghem, Willy Lissens, Cecile Cazeneuve, Claude Danan, Damien Sternberg, Claude Besmond, Serge Anselem | |||
| Evidence for a rare prostate cancer-susceptibility locus at chromosome 1p36. | Biological sciences | Janet L. Stanford, Leroy Hood, Elaine A. Ostrander, Gail P. Jarvik, Sarah Li, Mark Gibbs, Richard A. McIndoe, Suzanne Kolb, Ellen L. Goode, Lisa Chakrabarti, Eurgene F. Schuster, Valerie A. Buckley, Elizabeth L. Miller, Susan Brandzel | |||
| Evidence for effective suppression of recombination in the chromosome 17q21 segment spanning RNU2-BRCA1 (ital). | Biological sciences | David F. Barker, Xudong Liu | |||
| Evidence for linkage of adolescent-onset idiopathic generalized epilepsies to chromosome 8--and genetic heterogeneity. | Biological sciences | Jeffrey Cohen, Shlomo Shinnar, David A. Greenberg, Paula Abreu, Martina Durner, Guillan Zhou, Dingyi Fu, Stanley R. Resor, Solomon L. Moshe, David Rosenbaum, Cynthia Harden, Harriet Kang, Sibyllle Wallace, Daniel Luciano, Karen Ballaban-Gil, Irene Klotz, Elisa Dicker | |||
| Evidence for the genetic heterogeneity of nephropathic phenotypes associated with Denys-Drash and Frasier syndromes. | Biological sciences | T.M. Barratt, A.B. Koziell, R. Grundy, P. Scambler | |||
| Evidence that mutations in the X-linked DDP gene cause incompletely penetrant and variable skewed X inactivation. | Biological sciences | Huntington F. Willard, Robert M. Plenge, Lisbeth Tranebjaerg, Charles Schwartz, Peter K.A. Jensen | |||
| EXT(ital)-mutation analysis and loss of heterozygosity in sporadic and hereditary osteochondromas and secondary chondrosarcomas.(Statistical Data Included) | Biological sciences | Wim Wuyts, Anne-Marie Cleton-Jansen, Cees J. Cornelisse, Egbert Bakker, Wim Van Hul, Judith V.M.G. Bovee, Goedele Caethoven, Antonie H.M. Taminiau, Pancras C.W. Hogendoorn | |||
| Fine mapping of the split-hand/split-foot locus (SHFM3) at 10q24: evidence for anticipation and segregation distortion. | Biological sciences | Garth D. Ehrlich, Bernie Devlin, Bora E. Baysal, Rydvan S. Ozen, Joan E. Farr, Michael Gorry, Charles W. Richard III | |||
| FMR1 CGG-repeat instability in single sperm and lymphocytes of fragile-X premutation males. | Biological sciences | Sarah L. Nolin, George E. Houck Jr., Alice D. Gargano, Howard Blumstein, Carl S. Dobkin, W. Ted. Brown | |||
| Fragile sites--cytogenetic similarity with molecular diversity.(Human Genetics '99: Trinucleotide Repeats) | Biological sciences | Grant R. Sutherland, Robert I. Richards | |||
| From the ER to the Golgi: insights from the study of combined factors V and VIII deficiency.(endoplasmic reticulum)(Protein Biosynthesis '99) | Biological sciences | William C. Nichols, David Ginsburg | |||
| Functional and structural brain abnormalities associated with a genetic disorder of speech and language. | Biological sciences | Kate E. Watkins, David G. Gadian, Faraneh Varga-Khadem | |||
| Function and dysfunction of the presenilins.(Neurogenetics '99) | Biological sciences | Gopal Thinakaran, Sangram S. Sisodia, Seong H. Kim | |||
| Further evidence for the increased power of LOD scores compared with nonparametric methods. | Biological sciences | ||||
| Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993.(Statistical Data Included) | Biological sciences | Sara Shanske, Salvatore DiMauro, David R. Thorburn, Veronica R. Collins, Sarah L. White, Rory Wolfe, Maureen A. Cleary, Hans-Henrik M. Dahl | |||
| Genetic linkage of hyper-IgE syndrome to chromosome 4.(Statistical Data Included) | Biological sciences | Rebecca H. Buckley, John I. Gallin, Steven M. Holland, Harry L. Malech, Nele Wellinghausen, Hans D. Ochs, Jennifer M. Puck, Bodo Grimbacher, Bernd H. Belohradsky, Alejandro A. Schaffer, Joie Davis, Laurie A. Myers, T. Prescott Atkinson, Fausto Cossu, Teresa Espanol, Ben-Zion Garty, Nuria Matamoros, Robert P. Nelson, Eleonore D. Renner | |||
| Genetic linkage of IgA deficiency to the major histocompatibility complex: evidence for allele segregation distortion, parent-of-origin penetrance differences, and the role of anti-IgA antibodies in disease predisposition.(immunoglobulin A) | Biological sciences | Alessandro Plebani, Lennart Hammarstrom, Igor Vorechovsky, A David B. Webster | |||
| Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy. | Biological sciences | Paola Forabosco, Marco Seri, Marcella Devoto, Paolo Picco, Giuseppe De Michele, Giovanni Romeo, Roberto Cusano, Roberta Cinti, Francesco Caroli, Rita Bini, Vincezo Brescia Morra, Margherita Lerone, Margherita Silengo, Ivana Pela, Carla Bonnone | |||
| Genetics of Angelman syndrome.(Neurogenetics '99)(ST) | Biological sciences | Arthur L. Beaudet, Yong-hui Jiang, Efrat Lev-Lehman, Jan Bressler, Ting-Fen Tsai | |||
| Genetic studies of alcoholism and substance abuse.(Psychiatric Genetics '99)(Statistical Data Included) | Biological sciences | Theodore Reich, Anthony Hinrichs, Robert Culverhouse, Laura Bierut | |||
| Genome scan for human obesity and linkage to markers in 20q13. | Biological sciences | Joseph H. Lee, Michael North, Hakan Sakul, Danielle R. Reed, Wi-Dong Li, Weizhen Xu, Eun-Heong Joo, Robin L. Kilker, Elizateth Nanthakumar, Callum Bell, R. Arlen Price | |||
| Genomewide scan for familial combined hyperlipidemia genes in Finnish families, suggesting multiple susceptibility loci influencing triglyceride, cholesterol, and apolipoprotein B levels. | Biological sciences | Jorma Viikari, Leena Peltonen, Markku Laakso, Marja-Riitta Taskinen, Joseph D. Terwilliger, Markus Perola, Paivi Pajukanta, Tero Hiekkalinna, Ilpo Nuotio, Pekka Ellonen, Maija Parkkonen, Jaana Hartiala, Kati Ylitali, Jussi Pihlajamaki, Kimmo Porkka, Christian Ehnholm | |||
| Genomic structure of the canalicular multispecific organic anion-transporter gene (MRP2/cMOAT) and mutations in the ATP-binding--cassette region in Dubin-Johnson syndrome. | Biological sciences | Morimasa Wada, Takeshi Uchiumi, Michihiko Kuwano, Satoshi Toh, Akihiko Inokuchi, Yoshinari Makino, Yutaka Horie, Yukihiko Adachi, Shotaro Sakisaka | |||
| Genotype/phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR (ital), in Stargardt disease. | Biological sciences | Richard Alan Lewis, Michael Dean, Mark Leppert, James R. Lupski, Noah F. Shroyer, Rando Allikmets, Nanda Singh, Amy Hutchinson, Yixin Li | |||
| Germ-cell nondisjunction in testes biopsies of men with idiopathic infertility. | Biological sciences | Farideh Z. Bischoff, Dolores J. Lamb, Larry I. Lipshultz, Edward D. Kim, William J. Huang, Jocelyn de Lara, William W. Lin | |||
| Germ-line mosaicism in tuberous sclerosis: how common? | Biological sciences | Kit-Sing Au, E. Steve Roach, Hope Northrup, Verna M. Rose, Gretchen Pollom, Heather R. Prashner | |||
| Ggonadoblastoma, testicular and prostate cancers, and the TSPY gene.(Sex Chromosome Genetics '99) | Biological sciences | Yun-Fai Chris Lau | |||
| Hereditary isolate renal magnesium loss maps to chromosome 11q23. | Biological sciences | Andre Reis, Kathrin Saar, Nine V.A.M. Knoers, Lambert P.W.J. van den Heuvel, Martin Vollmer, Iwan C. Meij, Gudrun Nuernberg, Friedhelm Hindebrandt, Leo A.H. Monnens | |||
| Heritability of cellular radiosensitivity: a marker of low-penetrance predisposition genes in breast cancer?(Statistical Data Included) | Biological sciences | D. Scott, D.G.R. Evans, S.A. Roberts, A.R. Spreadborough, B. Bulman, J.B.P. Barber | |||
| Heterogeneous X inactivation in trophoblastic cells of human full-term female placentas. | Biological sciences | Wim L.J. van Putten, Annemieke J.M.H. Verkerk, Leendert H. J. Looijenga, Ad J. M. Gillis, J. Wolter Oosterhuis | |||
| High prevalence of mutations in the microtubule-associated protein tau in a population study of frontotemporal dementia in the Netherlands. | Biological sciences | Martinus F. Niermeijer, Michel Goedert, Rivka Ravid, Aad Tibben, Cornelia M. van Duijn, Ben A. Oostra, Peter Heutink, Patrizia Rizzu, Martijn Stevens, Marcel Hillebrand, Marijke Joosse, John C. Van Swieten, Masato Hasegawa | |||
| High rate of mosaicism in tuberous sclerosis complex. | Biological sciences | Dicky J.J. Halley, Dick Lindhout, Senno Verhoef, Lida Bakker, Anita M.P. Tempelaars, Arjenne L.W. Hesseling-Janssen, Tadeusz Mazurczak, Sergiusz Jozwiak, Alberto Fois, Gabriella Bartalini, Bernard A. Zonnenberg, Anthonie J. van Essen, Ans M.W. van den Ouweland | |||
| Homozygosity mapping of the achromatopsia locus in the Pingelapese. | Biological sciences | Suzanne M. Leal, Jeffrey D. Winick, Maude L. Blundell, Brandi L. Galke, Ambar A. Salam, Maria Karayiorgou | |||
| Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene.(Statistical Data Included) | Biological sciences | Ulrike Schwarze, Peter H. Byers, Darwin J. Prockop, Daniel H. Cohn, Deborah Krakow, W. Reardon, Alain Colige, Aleksander L. Sieron, Shi-Wu Li, Elizabeth Petty, Wladimir Wertelecki, William Wilcox, Charles M. Lapiere, Betty V. Nusgens | |||
| Human mitochondrial complex I in health and disease.(Protein Biosynthesis '99) | Biological sciences | Jan Smeitink, Lambert van der Heuvel | |||
| Human molybdopterin syntase gene: identification of a bicistronic transcript with overlapping reading frames. | Biological sciences | J. Reiss, B Stallmeyer, G Drugeon, A.L. Haenni, R.R. Mendel | |||
| Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B. | Biological sciences | ||||
| Human pedigree-based quantitative-trait-locus mapping: localization of two genes influencing HDL-cholesterol metabolism. | Biological sciences | Michael P. Stern, John Blangero, Jeff T. Williams, John L. VandeBerg, Jean W. MacCluer, David L. Rainwater, Michael C. Mahaney, Laura Almasy, James E. Hixson, Shelley Cole | |||
| Hyperparathyroidism-jaw tumor syndrome: the HRPT2 (ital) locus is within a 0.7-cM region on chromosome 1q. | Biological sciences | Charles E. Jackson, Irving B. Rosen, Richard J. Zarbo, Mark Leppert, Hilary Coon, Maurine R. Hobbs, Ann R. Pole, Gregory N. Piwirny, Hunter Heath III | |||
| Identification and characterization of a mutation, in the human UDP-galactose-4-epimerase gene, associated with generalized epimerase-deficiency galactosemia. | Biological sciences | Travis M. Wohlers, Nicole C. Christacos, Michelle T. Harreman, Judith L. Fridovich-Keil | |||
| Identification of a genetic defect in the hairless gene in atrichia with papular lesions: evidence for phenotypic heterogeneity among inherited atrichias. | Biological sciences | Eli Sprecher, Reuven Bergman, Raymonde Szargel, Nadine Cohen, Rachel Friedman-Birnbaum | |||
| Identification of a locus on chromosome 14q for idiopathic basal ganglia calcification (Fahr disease).(Statistical Data Included) | Biological sciences | Daniel H. Feschwind, John M. Stern, Maxim Loginov | |||
| Identification of a mutation cluster in mevalonate kinase deficiency, including a new mutation in a patient of Mennonite ancestry.(Statistical Data Included) | Biological sciences | Marie-Odile Rolland, Georg F. Hoffmann, K. Michael Gibson, Debra D. Hinson, Richard M. Ross, Skaidrite Krisans, Joanne L. Shaw, Viktor Kozich, Priscille Divry, Josette Mancini | |||
| Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7. | Biological sciences | Margaret A. Pericak-Vance, Jeffrey M. Stajich, Jeffery M. Vance, Allison Rogala, Marcy C. Speer, Kristi D. Viles, Janet M. Grubber, Felicia Lennon Graham, Robert McMichael, Jerry Chutkow, Claire Goldsmith, Richard W. Time | |||
| Identification of a new locus for medullary cystic disease, on chromosome 16p12. | Biological sciences | Andrea Ballabio, Paolo Aridon, Maurizio De Fusco, Giorgio Casari, Francesco Scolari, Antonio Amoroso, Gianluca Caridi, Gian Marco Ghiggeri, Daniela Puzzer, Rosario Maiorca | |||
| Identification of mutations in the repeated part of the autosomal dominant polycystic kidney disease type 1 gene, PKD1, by long-range PCR. | Biological sciences | Ruth Thomas, John Bradley, Richard Sandford, Robert McConnell, Jo Whittacker, Peter Kirkpatrick | |||
| Identification of novel pro-alpha2(IX) collagen gene mutations in two families with distinctive oligo-epiphyseal forms of multiple epiphyseal dysplasia. | Biological sciences | Bernhard Zabel, Andrew Carr, Michael D. Briggs, Geert R. Mortier, Paul Holden, Elizabeth G. Canty, Jurgen Spranger, Michael E. Grant, John A. Loughlin | |||
| Identifying families with likely genetic protective factors against Alzheimer disease. | Biological sciences | Kenneth L. Davis, Christopher J. Smith, Deborah B. Marin, Richard C. Mohs, Jeremy M. Silverman, Sandra Birstein, Marlene Mare | |||
| Immunoglobulin class switch recombination: will genetics provide new clues to mechanism?(DNA Repair '99) | Biological sciences | Nancy Maizels | |||
| Imprinting-mutation mechanisms in Prader-Willi syndrome. | Biological sciences | T. Ohta, T.A. Gray, D.J. Driscoll, R.D. Nicholls, M.F. Butler, B. Horsthemke, OP.K. Rogan, K. Buiting, J.M. Gabriel, S. Saitoh, B. Muralidhar, B. Bilienska, M. Krajewska-Walasek | |||
| Inbreeding effects on fertility in humans: evidence for reproductive compensation. | Biological sciences | Walter W. Hauck, Carole Ober, Terry Hyslop | |||
| Inherited colorectal polyposis and cancer risk of the APC I1307K (ital) polymorphism. | Biological sciences | Robert Gryfe, Mark Redston, Steven Gallinger, Nando Di Nicola, Geeta Lal | |||
| Insights from model systems: genes that regulate eosinophilic inflammation.(includes related article on investigation of cell migration and eosinophil rolling)(Statistical Data Included) | Biological sciences | David H. Broide, Hal Hoffman, P. Sriramarao | |||
| Insights from model systems: learning from the slime mold: Dictyostelium and human disease. | Biological sciences | ||||
| Insights from model systems: mice and the role of unequal recombination in gene-family evolution.(includes related article on detection of germ-line gene conversion in mice) | Biological sciences | John C. Schimenti | |||
| Insights from model systems: the yeast connection to Friedrich ataxia.(includes related article iron accumulation and mitochondrial DNA damage in yeast cells and analogous possibilities in human cells) | Biological sciences | Andrew Dancis, Simon A.B. Knight, Roy Kim, Debkumar Pain | |||
| In Swedish families with hereditary prostate cancer, linkage to the HPC1 (ital) locus on chromosome 1q24-25 is restricted to families with early-onset prostate cancer. | Biological sciences | Jeffrey Trent, William Isaacs, Henrik Gronberg, Jianfeng Xu, Jeffrey Smith, Monika Emanuelsson, Bjorn-Anders Jonsson, Anders Bergh, John Carpten, Deborah Meyers, Jan-Erik Damber | |||
| Interaction between the functional polymorphisms of the alcohol-metabolism genes in protection against alcoholism.(Statistical Data Included) | Biological sciences | Shih-Jiun Yin, Ru-Band Lu, Chiao-Chicy Chen, Yi-Chyan Chen, Ming-Fang Wang, Yue-Cune Chang, Ting-Kai Li | |||
| Interleukin-2 signaling and inherited immunodeficiency.(Immunogenetics '99)(Statistical Data Included) | Biological sciences | James A. Johnston, Nicholas A. Cacalano | |||
| Juvenile hemochromatosis locus maps to chromosome 1q. | Biological sciences | M. Carella, A. Totaro, L. Zelante, P. Gasparini, A. Roetto, M. Cazzola, M. Cicilano, S. Bosio, G. D'Ascola, A.L. Kelly, T.M. Cox, C. Camaschella | |||
| Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other hand/foot anomalies maps to human chromosome 3q27. | Biological sciences | Han G. Brunner, Hans-Hilger Ropers, Ben C.J. Hamel, Arie P.T. Smits, Franz Ruschendorf, Andre Reis, Hans van Bokhoven, Thomas F. Wienker, Edwin C.M. Mariman, Martin Jung, Sylvia van Beersum, Maurice van Steensel, Monique Veenstra, Joep H.A.M. Tuerlings | |||
| LINE-1 elements at the sites of molecular rearrangements in Alport syndrome-diffuse leiomyomatosis. | Biological sciences | Jing Zhou, Andrea Ballabio, Mario de Marchi, Yoav Segal, Bernard Peissel, Alessandra Renieri, York Pei | |||
| Linkage analysis in a large Brazilian family with van der Woude syndrome suggests the existence of a susceptibility locus for cleft palate at 17p11.2-11.1.(Statistical Data Included) | Biological sciences | Andrea L. Sertie, Andrea V. Sousa, Silvio Steman, Rita C. Pavanello, M. Rita Passos-Buena | |||
| Linkage disequilibrium at the ADH2 and ADH3 loci and risk of alcoholism. | Biological sciences | Kenneth K. Kidd, Huei-Chen Ko, Andrew J. Pakstis, Judith R. Kidd, Michael Osier, Jia-Fu Lee, Shih-Jiun Yin, Howard J. Edenberg, Ru-Band Lu | |||
| Linkage-disequilibrium mapping of disease genes by reconstruction of ancestral haplotypes in founder populations. | Biological sciences | S.K. Service, D. W. Temple Lang, N.B. Freimer, L.A. Sandkuijl | |||
| Linkage of familial hemophagocytic lymphohistiocytosis to 10q21-22 and evidence for heterogeneity. | Biological sciences | ||||
| Linkage of low-density lipoprotein size to the lipoprotein lipase gene in heterozygous lipoprotein lipase deficiency. | Biological sciences | ||||
| Linkage of type 2 diabetes mellitus and of age at onset to a genetic location on chromosome 10q in Mexican Americans. | Biological sciences | Michael P. Stern, Thomas D. Dyer, John Blangero, Laura Almasy, Robin J. Leach, Ravindranath Duggirala, Kenneth L. Williams, Peter O'Connell | |||
| Localization of a gene for benign adult familial myoclonic epilepsy to chromosome 8q23.3-q24.1.(Statistical Data Included) | Biological sciences | Yu-ichi Goto, Sunao Kaneko, Toshihiro Tanaka, Masaaki Mikami, Takeshi Yasuda, Akira Terao, Masayuki Nakamura, Shu-ichi Ueno, Hirotaka Tanabe, Teiichi Onuma, Akira Sano | |||
| Localization of a gene for familial hemophagocytic lymphohistiocytosis at chromosome 9q21.3-22 by homozygosity mapping. | Biological sciences | Pak Sham, D. Mark Layton, Mina Ohadi, Michel R.A. Lalloz, Jinghua Zhao, Andrew M. Dearlove, Caroline Shiach, Sally Kinsey, Michael Rhodes | |||
| Localization of a gene for familial patella aplasia-hypoplasia (PTLAH) to chromosome 17q21-22.(Statistical Data Included) | Biological sciences | Francesca Capon, Massimo Mangino, Otto Sanchez, Isabella Torrente, Alessandro De Luca, Guiseppe Novelli, Bruno Dalllapiccola | |||
| Localization of familial benign hypercalcemia, Oklahoma variant (FBH (sub.Ok)), to chromosome 19q13. | Biological sciences | Michael P. Whyte, Rajesh V. Thakker, Sarah E. Lloyd, Anna A.J. Pannett, Peter H. Dixon | |||
| Localization of the gene for sclerosteosis to the van Buchem disease-gene region on chormosome 17q12-q21. | Biological sciences | Patrick J. Willems, Suvimol C. Hill, Filip Vanhoenacker, Wim Van Hul, Constantine A. Stratakis, Wendy Balemans, Frederik G. Dikkers, Jenneke Van Den Ende, Auristela Freire Paes-Alves, Neli de Almedia-Melo, Cristiane Freire Alves | |||
| Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay, in chromosome region 13q11. | Biological sciences | Kenneth Morgan, Jean Weissenbach, Gabor Gyapay, Thomas J. Hudson, John D. Rioux, Andrea Richter, Jean-Pierre Bouchard, Jocelyne Mercier, Jean Mathieu, Bing Ge, Josee Poirier, Dominique Julien, Serge B. Melancon | |||
| Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome. | Biological sciences | Raj K. Pandita, Bernice E. Morrow, Lisa Edelmann | |||
| Making genomic medicine a reality.(Transcript) | Biological sciences | Arthur L. Beaudet | |||
| Male infertility and the Y chromosome.(Sex Chromosome Genetics '99) | Biological sciences | Ken McElreavey, Csilla Krausz | |||
| Mapping of a familial Moyamoya disease gene to chromosome 3p24.2-p26. | Biological sciences | Masashi Fukui, Toru Sasaki, Hidetoshi Ikeda, Takashi Yoshimoto, Tadao Arinami | |||
| Mapping of a new autosomal dominant spinocerebellar ataxia to chromosome 22. | Biological sciences | Lan Zu, Karla P. Figueroa, Raji Grewal, Stefan-M. Pulst | |||
| Mapping of a new SGBS locus to chromosome Xp22 in a family with a severe form of Simpson-Golabi-Behmel syndrome.(Statistical Data Included) | Biological sciences | L.M. Brzustowicz, S. Farrell, M.B. Khan, R. Weksberg | |||
| Mapping of primary congenital lymphedema to the 5q35.3 region. | Biological sciences | Glen Brice, Mansoor Sarfarazi, Peter Mortimer, Alison L. Evans, Vihra Sotirova, Joseph Beninson, Kevin Burnand, Jane Rosbotham, Anne Chile | |||
| Mapping of the mucolipidosis type IV gene to chromosome 19p and definition of founder haplotypes.(Statistical Data Included) | Biological sciences | Raphael Schiffmann, James F. Gusella, Catherine Bove, James S. Acierno Jr., Susan A. Slaugenhaupt, Lisa Anne Helbling, Ehud Goldin, Gideon Bach | |||
| MEFV-gene analysis in Armenian patients with familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype--genetic and therapeutic implications. | Biological sciences | Serge Amselem, Michel Goossens, Jean-Claude Kouyoumdjian, Philippe Reinert, Brigitte Nedelec, Marc Delpech, Tamara Sarkisian, Cecile Cazeneuve, Christophe Pecheux, Michel Dervichian, Alexandre Ayvazyan, Hasmik Ajrapetyan, Catherine Dode, Gilles Grateau | |||
| Methods for detection of parent-of-origin effects in genetic studies of case-parents triads. | Biological sciences | ||||
| Microglia and the immune pathology of Alzheimer disease.(Neurogenetics '99) | Biological sciences | Dana Giulian | |||
| Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies.(Statistical Data Included) | Biological sciences | Yuki Yamaguchi, Hiroshi Handa, Masao Yamada, Noriyuki Azuma, Mutsuko Hayakawa, Atsushi Kanai | |||
| Mitochondrial genetic analyses suggest selection against maternal lineages in bipolar affective disorder.(Statistical Data Included) | Biological sciences | William Amos, Eugene S. Paykel, David C. Rubinsztein, Robert A. Furlong, Robert P. Holdstock, Gillian Cooper, Judy S. Rubinsztein, Cathy Walsh | |||
| Modification of BRCA1 (ital)-associated breast cancer risk by the polymorphic androgen-receptor CAG repeat. | Biological sciences | ||||
| Molecular analysis of SALL1 (ital) mutations in Townes-Brocks syndrome. | Biological sciences | Leo P. ten Kate, Richard C. Trembath, William Reardon, Koen Devriendt, Wolfgang Engel, Eva Seemanova, Martijn H. Breuning, Jurgen Kohlhase, Peter E.M. Taschner, Peter Burfeind, Bastian Pasche, Bill Newman, Christopher Blanck, Petra Maaswinkel-Mooy, Beate Mitulla, Jorg Seidel, Susan J. Kirkpatrick, Richard M. Pauli, David S. Wargowski, Willem Proesmans, Orazio Gabrielli, Giovanni V. Coppa, Eveline Wesby-van Swaay, Albert A. Schinzel | |||
| Molecular and clinical study of 18 families with ADCA type II: evidence for genetic heterogeneity and de novo mutation.(autosomal dominant cerebellar ataxia) | Biological sciences | A. Brice, G. Stevanin, N.W. Wood, P. Giunti, P.F. Worth, G. David | |||
| Molecular characterization of CTNS (ital) deletions in nephropathic cystinosis: development of a PCR-based detection assay.(Statistical Data Included) | Biological sciences | Michel Broyer, Corinne Antignac, Cathryn Lewis, Lionel Forestier, Genevieve Jean, Marlene Attard, Stephanie Cherqui, William Van't Hoff, Margaret Town | |||
| Molecular genetic analysis of remains of a 2,000-year-old human population in China--and its relevance for the origin of the modern Japanese population. | Biological sciences | Naruya Saitou, Hiroki Oota, Takayuki Matsushita, Shintaroh Ueda | |||
| Molecular mechanism of Angelman syndrome in two large families involves an imprinting mutation. | Biological sciences | T. Ohta, D.J. Driscoll, R.D. Nicholls, K. Buitin, H. Kokkonen, S. McCandless, S. Heeger, H. Leisti, S.B. Cassidy, B. Horsthemke | |||
| Monoamine oxidase in neuropsychiatry and behavior.(Psychiatric Genetics '99)(Statistical Data Included) | Biological sciences | J.C. Shih, R.F. Thompson | |||
| Monodactylous limbs and abnormal genitalia are associated with hemizygosity for the human 2q31 region that includes the HOXD (ital) cluster. | Biological sciences | William McGinnis, Miguel Del Campo, Marilyn C. Jones, Alexey N. Veraksa, Cindy J. Curry, Kenneth L. Jones, James T. Mascarello, Zohra Ali-Kahn-Catts, Timothy Drumheller | |||
| mtDNA analysis of Nile River Valley populations: a genetic corridor or a barrier to migration? | Biological sciences | Svante Paabo, Gerd Utermann, Anna Di Rienzo, Christian Simon, Antti Sajantila, Mark Stoneking, Helga Geisert, Karin Bauer, Matthias Krings, Abd-el Halim Salem, Adel K. Malek, Louis Chaix, Derek Welsby | |||
| mtDNA history of the Cayapa Amerinds of Ecuador: detection of additional founding lineages for the Native American populations.(Statistical Data Included) | Biological sciences | O. Rickards, G.F. De Stefano, C. Martinez-Labarga, J.K. Lum, R.L. Cann | |||
| Multicentric origin of hemochromatosis gene (HFE) mutations. | Biological sciences | D.J. Weatherall, J. Rochette, J.J. Pointon, C.A. Fisher, G. Perera, M. Arambepola, D.S. Kodikara Arichchi, S. De Silva, J.L. Vandwalle, J.P. Monti, J.M. Old, A.T. Merryweather-Clarke, K.J.H. Robson | |||
| Multiple ATM-dependent pathways: an explanation for pleiotropy.(Invited Editorial) | Biological sciences | Kevin D. Brown, Carrolee Barlow, Anthony Wynshaw-Boris | |||
| Multiplex-FISH for pre- and postnatal diagnostic applications.(Statistical Data Included) | Biological sciences | Simone Schuffenhauer, Sabine Uhrig, Michael R. Speicher, Monika Cohen, Christine Fauth, Antje Wirtz, Cornelia Daumer-Haas, Can Apacik, Jutta Muller-Navia, Thomas Cremer, Jan Murken | |||
| Multipoint oligogenic analysis of age-at-onset data with applications to Alzheimer disease pedigrees. | Biological sciences | Ellen M. Wijsman, E. Warwick Daw, Simon C. Heath | |||
| Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder. | Biological sciences | Rose-Mary Boustany, David E. Sleat, Rosalie M. Gin, Istvan Sohar, Krystyna Wisniewski, Susan Sklower-Brooks, Raju K. Pullarkat, David N. Palmer, Terry J. Lerner, Peter Uldall, Aristotle N. Siakotos, Robert J. Donnelly, Peter Lobel | |||
| Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population. | Biological sciences | Daniel L. Kastner, Rosario Giustolisi, Elon Pras, Ivona Aksentijevich, Mordechai Pras, Carole Oddoux, Harry Ostrer, Geryl Wood, Yelizaveta Torosyan, Jonathan Samuels, Michael Centola, Jae Jin Chae, Maria Pia Azzaro, Giuseppe Palumbo | |||
| Mutations in a dominant-negative isoform correlate with phenotype in inherited cardiac arrhythmias. | Biological sciences | Denis Escande, Pascale Guicheney, Sophie Demolombe, Florence Kyndt, Raha Mohammad-Panah, Nathalie Neyroud, Maurice van den Hoff, Isabelle Baro | |||
| Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme.(uridinediphosphate) | Biological sciences | William A. Gahl, Raili Seppala, Veli-Pekka Lehto | |||
| Mutations of the TIGR/MYOC gene in primary open-angle glaucoma in Korea. | Biological sciences | Sung-Joo Kim Yoon, Hae-Suk Kim, Joung-Il Moon, Jung Min Lim, Choun-Ki Joo | |||
| Myotonic dystrophy: the role of RNA CUG triplet repeats.(Human Genetics '99: Trinucleotide Repeats)(Review) | Biological sciences | Lubov T. Timchenko | |||
| Nitric oxide in endothelial dysfunction and vascular remodeling: clinical correlates and experimental links.(Human Genetics '99: The Cardiovascular System) | Biological sciences | William C. Sessa, Radu D. Rudic | |||
| Noninvasive test for fragile X syndrome, using hair root analysis. | Biological sciences | ||||
| Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q. | Biological sciences | ||||
| On the assessment of statistical significance in disease-gene discovery. | Biological sciences | Ross Prentice, Lue Ping Zhao, Li Hsu, Fumin Shen | |||
| Osteoarthritis-susceptibility locus on chromosome 11q, detected by linkage. | Biological sciences | Janet S. Sinsheimer, Anne Smith, Lon R. Cardon, Bryan Sykes, John Loughlin, Catherine Irven, Zehra Mustafa, Kay Chapman, Andrew J. Carr, Kim Clipsham, Jai Chitnavis, Victoria A. Bloomfield, Mary McCartney, Olive Cox | |||
| Outrageous fortune: the risk of suicide in genetic testing for Huntington disease.(Editorial) | Biological sciences | Thomas D. Bird | |||
| Overgrowth syndromes and the regulation of signaling complexes by proteoglycans.(Editorial) | Biological sciences | Scott B. Selleck | |||
| Patterns of instability of expanded CAG repeats at the ERDA1 (ital) locus in general populations. | Biological sciences | Ranajit Chakraborty, Ranjan Deka, Sun Guangyun, Jonathan Wiest, Diane Smelser, Su Chunhua, Yixi Zhong | |||
| Penetrances of BRCA1 1675delA and 1135insA with respect to breast cancer and ovarian cancer.(Statistical Data Included) | Biological sciences | Anne Dorum, Pal Moller, Ketil Heimdal, Eivind Hovig, Mats Inganas | |||
| Peopling of Sahul: mtDNA variation in aboriginal Australian and Papua New Guinean populations.(Statistical Data Included) | Biological sciences | ||||
| Periventricular heterotopia and the genetics of neuronal migration in the cerebral cortex.(Neurogenetics '99) | Biological sciences | Jeremy W. Fox, Christopher A. Walsh | |||
| Peroxisomal bifunctional protein deficiency revisited: resolution of its true enzymatic and molecular basis. | Biological sciences | T. Hashimoto, R.J.A. Wanders, P.A. Watkins, Y. Suzuki, E.G. van Grusven, E. van Berkel, P.A.W. Mooijer, H.W. Moser, L.L. Jiang, G. Hoefler, J. Adamski | |||
| PEX13 (ital) is mutated in complementation group 13 of the peroxisome-biogenesis disorders.(Statistical Data Included) | Biological sciences | Stephen J. Gould, Ronald J.A. Wanders, Yifei Liu, Jonas Bjorkman, Aaron Urquhart, Denis I. Crane | |||
| Phyllis J. McAlpine, Ph.D., 1941-98: in memoriam.(Obituary) | Biological sciences | Diane W. Cox, Susan Povey, Thomas B. Shows | |||
| Point and interval estimates of marker location in radiation hybrid mapping.(Statistical Data Included) | Biological sciences | Kenneth Lange, Michael Boehnke, Heather M. Stringham | |||
| Poly(ADP-ribose) polymerase in the cellular response to DNA damage, apoptosis, and disease.(DNA Repair '99) | Biological sciences | F. Javier Oliver, Josiane Menissier-de Murcia, Gilgert de Murcia | |||
| Polymorphic X-chromosome inactivation of the human TIMP1(ital) gene.(Statistical Data Included) | Biological sciences | Carolyn J. Brown, Catherine L. Anderson | |||
| Power of association and linkage tests when the disease alleles are unobserved. | Biological sciences | Alice S. Whittemore, I-Ping Tu | |||
| Prader-Willi syndrome is caused by disruption of the SNRPN gene. | Biological sciences | C.D. Kuslich, J.A. Kobori, G. Mohapatra, C. Gregorio-King, T.A. Donlon | |||
| Precise genetic mapping and haplotype analysis of the familial dysautonomia gene on human chromosome 9q31. | Biological sciences | Maria Idelson, Anat Blumenfeld, James F. Gusella, Channa Maayan, Susan A. Slaugenhaupt, Sandra Gill, Christopher B. Liebert, Violeta Temper, Diane E. Lucente, Kathy MacCormack, Mary Anne Monahan, James Mull, Maire Leyne, Marc Mendillo, Taryn Schiripo, Esther Mishori, Xandra Breakefield, Felicia B. Axelrod | |||
| Prevalence and phenotype consequence of FRAXA and FRAXE alleles in a large, ethnically diverse, special education-needs population. | Biological sciences | Patricia Holmgreen, Coleen Boyle, Marshalyn Yeargin-Allsopp, Stephanie L. Sherman, Dana C. Crawford, Kellen L. Meadows, James L. Newman, Lisa F. Taft, Dorothy L. Pettay, Laura B. Gold, S. Jane Hersey, Elizabeth F. Hinkle, Mary L. Stanfield | |||
| Program and abstracts: 1999 annual meeting.(Supplement to Vol. 65) | Biological sciences | ||||
| Protein fate in neurodegenerative proteinopathies: polyglutamine diseases join the (mis)fold.(Human Genetics '99: Trinucleotide Repeats) | Biological sciences | Henry L. Paulson | |||
| Proteolipoprotein gene analysis in 82 patients with sporadic Perlizaeus-Merzbacher disease: duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not.(Statistical Data Included) | Biological sciences | Corinne Mimault, Genevieve Giraud, Virginie Courtois, Fabrice Cailloux, Jean Yves Boire, Bernard Dastugue, Odile Boespflug-Tanguy | |||
| Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 (ital) mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling. | Biological sciences | K. Zerres, Brunhilde Wirth, M. Herz, A. Wetter, S. Moskau, E. Hahnen, S. Rudnik-Schoneborn, T. Wienker | |||
| Quantitative-trait locus for specific language and reading deficits on chromosome 6p. | Biological sciences | ||||
| Rapid clearance of fetal DNA from maternal plasma. | Biological sciences | Tze K. Lau, Jun Zhang, Y.M. Dennis Lo, Allan M.Z. Chang, N. Magnus Hjelm, Tse N. Leung | |||
| Recurrence of Marfan syndrome as a result of parental germ-line mosaicism for an FBN1 mutation. | Biological sciences | Ilkka Kaitila, Leena Peltonen, Ann-Christine Syvanen, Terhi Rantamaki, Matti Lukka | |||
| Recurrence of the T666M calcium channel CACNA1A gene mutation in familial hemiplegic migraine with progressive cerebellar ataxia. | Biological sciences | A. Ducros, C. Denier, A. Joutel, K. Vahedi, A. Michel, F. Darcel, M. Madigand, D. Guerouaou, R. Tison, Julien J., E. Hirsch, F. Chedru, C. Bisgard, G. Lucotte, E. Tournier-Lasserve, P. Despres, C. Billard, M.A. Barthez, G. Ponsot, M.G. Bousser | |||
| Redefinition of exon 7 in the COL1A1 (ital) gene of Type I collagen by an intron 8 splice-donor-site mutation in a form of osteogenesis imperfecta: influence of intron splice order on outcome of splice-site mutation.(Statistical Data Included) | Biological sciences | Ulrike Schwarze, Peter H. Byers, Barbra J. Starman | |||
| Refinement of the chromosome 5p locus for familial calcium pyrophosphate dihydrate deposition disease. | Biological sciences | C.J. Williams, S. Walsh, A. Gaucher, A. Carr, L.J. Andrew, V. Brancolini, L. Serrano de la Pena, M. Devoto, F. Caeiro, R. Marchegiani, A. Reginato, P. Netter, P. Gillet, D. Loeuille, D.J. Prockop, B.F. Wordsworth, M. Lathrop, S. Butcher, E. Considine, K. Everts, A. Nicod | |||
| Relationship estimation by Markov-process models in a sib-pair linkage study. | Biological sciences | Jane M. Olson | |||
| Relaxed replication of mtDNA: a model with implications for the expression of disease. | Biological sciences | Patrick F. Chinnery, David C. Samuels | |||
| Remarks on receiving the ASHG award: science and science education.(American Society of Human Genetics Award for Excellence in Education)(Transcript) | Biological sciences | Ching Chun Li | |||
| Repair of mtDNA in vertebrates.(DNA Repair '99) | Biological sciences | ||||
| Replication of linkage studies of complex traits: an examination of variation in location estimates.(Statistical Data Included) | Biological sciences | Kenneth S. Kendler, Michael C. Neale, Lindon J. Eaves, Seth B. Roberts, Charles J. MacLean | |||
| Retinitis pigmentosa and progressive sensorineural hearing loss caused by a C12258A mutation in the mitochondrial MTTS2 gene. | Biological sciences | Peter Humphries, G. Jane Farrar, Sophia Millington-Ward, Anna-Sophia Kiang, Paul F. Kenna, Fiona C. Mansergh, Avril Kennan, Marian Humphries | |||
| Rett syndrome in a boy with a 47,XXY karyotype. | Biological sciences | Mayana Zatz, Jose Salomao Schwartzman, Luciana dos Reis Vasquez, Raquel Ribeiro Gomes, Celia P. Koiffmann, Cintia Fridman, Priscilla Guimaraes Otto | |||
| Rh(sub.mod) syndrome: a family study of the translation-initiator mutation in the Rh50 glycoprotein gene. | Biological sciences | Y. Chen, C.-H. Huang, G.-J. Cheng, M.E. Reid | |||
| Sequence diversity in 36 candidate genes for cardiovascular disorders. | Biological sciences | Alun Evans, Francois Cambien, Odette Poirier, Dominique Arveiler, Gerald Luc, Sylvain Ricard, Laurence Tiret, Viviane Nicaud, Stefan-Martin Herrmann, Christine Mallet, Isabelle Behague, Vincent Hallet, Herve Blanc, Valerie Loukaci, Joelle Thillet, Jean-Bernard Ruidavets | |||
| Severe hepatic fibrosis in Schistosoma mansoni infection is controlled by a major locus that is closely linked to the interferon-gamma receptor gene.(Statistical Data Included) | Biological sciences | Laurent Abel, Dominique Hillaire, Alain J. Dessein, Nasr Eldin M.A. Elwali, Sandrine Marquet, Qurashi Mahamed-Ali, Adil Mirghani, Sandrine Henri, Ahmed A. Abdelhameed, Osman K. Saeed, Mubarak M.A. Magzoub | |||
| Sex-specific migration patterns in central Asian populations, revealed by analysis of Y-chromosome short tandem repeats and mtDNA. | Biological sciences | Davide Pettener, Rosa Martinez-Arias, David Comas, Fiorenzo Facchini, Giovanni Fiori, Eva Mateu, Elena Bosch, Jordi Clarimon, Donata Luiselli, Jaume Bertranpetit, Anna Perez-Lezaun, Calafell Francesc | |||
| Sibling-based tests of linkage and association for quantitative traits. | Biological sciences | Moonseong Heo, Eden R. Martin, David B. Allison, Norman Kaplan | |||
| Specificity in transforming growth factor--beta signaling pathways.(Human Genetics '99: The Cardiovascular System) | Biological sciences | C.J. Ring, K.W.Y. Cho | |||
| Spectrum of mutations in alpha-mannosidosis. | Biological sciences | Thomas Berg, Lisbeth Tranebjaerg, Hilde Monica Frostad Riise, Gaute Martin Hansen, Dag Malm, Ole Kristian Tollersrud, Oivind Nilssen | |||
| Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences. | Biological sciences | Richard A. Gatti, Ozden Sanal, Patrick Concannon, Milhan Telatar, Teresa Liang, Luciana Chessa, Sharon N. Teraoka, Sara Becker-Catania, Suna Onengut, Asli Tolun, Eva Bernatowska | |||
| Stress-response proteins in cardiovascular disease.(Human Genetics '99: The Cardiovascular System) | Biological sciences | Ivor J. Benjamin, XianZhong Xiao | |||
| Structure of the gene for congenital nephrotic syndrome of the Finnish Type (NPHS1) and characterization of mutations. | Biological sciences | Karl Tryggvason, Patrick Niaudet, Jane Lamerdin, Anne Olsen, Corinne Antignac, Olivier Gribouval, Marjo Kestila, Ulla Lenkkeri, Christer Holmberg, Minna Mannikko, Paula McCready, Clifford E. Kashtan | |||
| Structure of the GM2A (ital) gene: identification of an exon 2 nonsense mutation and a naturally occurring transcript with an in-frame deletion of exon 2. | Biological sciences | Cynthia Curry, Don J. Mahuran, Brigitte Rigat, Biao Chen | |||
| Testing the robustness of the likelihood-ratio test in a variance-component quantitative-trait loci-mapping procedure.(Statistical Data Included) | Biological sciences | Michael C. Neale, Nicholas J. Schork, Christopher I. Amos, John Blangero, David B. Allison, Raffaella Zannolli | |||
| The 2588G to C mutation in the ABCR gene is a mild frequent founder mutation in the western European population and allows the classification of ABCR mutations in patients with Stargardt disease. | Biological sciences | Han G. Brunner, Frans P.M. Cremers, Arthur A.B. Bergen, Carel B. Hoyng, Klaus Rohrschneider, B. Jeroen Klevering, Niklas Dahl, Alessandra Maugeri, Marc A. van Driel, Dorien J.R. van de Pol, Frank J.J. van Haren, Nel Tijmes, Anita Blankenagel, Alfred J.L.G. Pinckers, August F. Deutman | |||
| The bare lymphocyte syndrome: molecular clues to the transcriptional regulation of major histocompatibility complex class II genes.(Immunogenetics '99)(Statistical Data Included) | Biological sciences | Jeremy M. Boss, Angela DeSandro, Uma M. Nagarajan | |||
| The central Siberian origin for Native American Y chromosomes. | Biological sciences | William R. Leonard, Michael H. Crawford, Fabricio R. Santos, Chris Tyler-Smith, Arpita Pandya, Sergio D.J. Pena, Moses Schanfield, Ludmila Osipova, R. John Mitchell | |||
| The challenges of psychopharmacogenetics.(Psychiatric Genetics '99)(Statistical Data Included) | Biological sciences | Marco Catalano | |||
| The critical region for Behcet disease in the human major histocompatibility complex is reduced to a 46-kb segment centromeric of HLA-B, by association analysis using refined microsatellite mapping. | Biological sciences | Akira Oka, Gen Tamiya, Hidetoshi Inoko, Masao Ota, Nobuhisa Mizuki, Yoshihiko Katsuyama, Takashi Shiina, Hitoshi Ando, Minoru Kimura, Kaori Goto, Shigeaki Ohno | |||
| The duty to recontact: attitudes of genetics service providers. | Biological sciences | ||||
| The emerging tree of west Eurasian mtDNAs: a synthesis on control-region sequences and RFLPs.(restriction fragment length polymorphisms) | Biological sciences | Martin Richards, Antonio Torroni, Vincent Macaulay, Bryan Sykes, Fulvio Cruciani, Rosaria Scozzari, Batsheva Bonne-Tamir, Eileen Hickey, Emilce Vega, Valentina Guida | |||
| The Fanconi anemia group E gene, FANCE, maps to chromosome 6p. | Biological sciences | Hans Joenje, Fre Arwert, Neil V. Morgan, Christopher G. Mathew, Martin Digweed, Andre Reis, Peter A. Leegwater, Kathrin Saar, Quinten Waisfisz, Cigdem Altay, Johan P. de Winter, Kenshi Komatsu, Gareth R. Evans, Rolf-Dieter Wegner, Jan C. Pronk | |||
| The gene for cherubism maps to chromosome 4p16. | Biological sciences | Francisco M. Salzano, Naomi Fukai, Valdenize Tiziani, Ernst Reichenberger, Celso Luiz Buzzo, Sadia Niazi, Michael Stiller, Hartmut Peters, Cassio M. Raposo do Amaral, Bjorn Reino Olsen | |||
| The gene for cherubism maps to chromosome 4p16.3. | Biological sciences | Trang Nguyen, Michael R. Stratton, Asgeir Sigurdsson, Jonathan Mangion, Sarah Edkins, Rita Barfoot, Nazneen Rahman, John V. Townend, David R. Fitzpatrick, Adrenne M. Flanagan | |||
| The gene for hypotrichosis of Marie Unna maps between D8S258 and D8S298: exclusion of the hr (ital) gene by cDNA and genomic sequencing.(Statistical Data Included) | Biological sciences | Jouni Uitto, Peter M. Steijlen, John A. McGrath, Hannie Kremer, Colin S. Munro, W.H. Irwin McLean, Maurice van Steensel, Frances J.D. Smith, Irma Kluijt, Howard P. Stevens, Andrew Messenger, M. Giles S. Dunnill, Cameron Kennedy, Seana P. Covello, Carrie M. Coleman, Valerie R. Doherty | |||
| The gene for leukoencephalopathy with vanishing white matter is located on chromosome 3q27.(Statistical Data Included) | Biological sciences | Cees B.M. Oudejans, Andrea A.M. Konst, Lodewijk A. Sandkuijl, Jan C. Pronk, Peter A.J. Leegwater, Bertus Keyt, SakkuBai Naidu, Ruud B.H. Schutgens, Marjo S. van der Knaap | |||
| The genetic basis for periodic fever. | Biological sciences | John C. Mulley | |||
| The genomic record of humankind's evolutionary roots.(Molecular Evolution '99)(appendix gives age-related molecular phylogenetic classification of living primates) | Biological sciences | Morris Goodman | |||
| The mammalian Mre11-Rad50-Nbs1 protein complex: integration of functions in the cellular DNA-damage response.(DNA Repair '99) | Biological sciences | John H.J. Petrini | |||
| The molecular basis of cystathionine beta-synthase deficiency in Dutch patients with homocystinuria: effect of CBS genotype of biochemical and clinical phenotype and on response to treatment. | Biological sciences | Henk J. Blom, Johan R.M. Cruysberg, Godfried H.J. Boers, Lambert P.W.J. van den Heuvel, Leo A.J. Kluijtmans, Jan Kraus, Frans J.Mm Trijbels | |||
| The molecular basis of malonyl-CoA decarboxylase deficiency.(Statistical Data Included) | Biological sciences | Alison Hill, David R. Thorburn, David R. FitzPatrick, John L. Tolmie, John Christodoulou | |||
| The molecular basis of vascular disorders.(Human Genetics '99: The Cardiovascular System) | Biological sciences | John Belmont, Jeffrey A. Towbin, Brett Casey | |||
| The phenotypic spectrum of GL13 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; no phenotype prediction from the position of GL13 mutations.(Statistical Data Included) | Biological sciences | Stylianos E. Antonarakis, Karl-Heinz Grzeschik, Uppala Radhakrishna, Uday C. Patel, Armand Bottani, Hamish S. Scott, Colette Rossier, Jean-Louis Bouin, Dorothea Bornholdt, Hartmut Engel, Divya Chandal, Jitendra Solanki | |||
| The predisposition to type 1 diabetes linked to the human leukocyte antigen complex includes at least one non-class II gene. | Biological sciences | Dag E. Undlien, John A. Todd, Jorn Nerup, Flemming Pociot, Geir Joner, Kjersti S. Ronningen, Benedicte A. Lie, Hanne E. Akselsen, Knut Dahl-Jorgensen, Erik Thorsby | |||
| The prevalence of common BRCA1 and BRCA2 mutations among Ashkenazi Jews. | Biological sciences | Sholom Wacholder, Patricia Hartge, Jeffery P. Struewing, Margaret A. Tucker, Lawrence C. Brody | |||
| The promoters of the survival motor neuron gene (SMN)(ital) and its copy (SMNc)(ital) share common regulatory elements. | Biological sciences | Judith Melki, Andoni Echaniz-Laguna, Pierre Miniou, Deborah Bartholdi | |||
| The role of community review in evaluating the risks of human genetic variation research. | Biological sciences | Richard R. Sharp, Morris W. Foster, Deborah Bernsten, Thomas H. Carter, William L. Freeman, Michelle Chino | |||
| The spectrum of mutations in TBX3: genotype/phenotype relationship in ulnar-mammary syndrome. | Biological sciences | J.G. Seidman, M. Bamshad, T. Le, W.S. Watkins, M.E. Dixon, B.E. Kramer, A.D. Roeder, J.C. Carey, S. Root, A. Schinzel, L. Van Maldergem, R.J.M. Gardner, R.C. Lin, C.E. Seidman, R. Wallerstein, E. Moran, R. Sutphen, C.E. Campbell, L.B. Jorde | |||
| The "thermolabile" variant of methylenetetrahydrofolate reductase and neural tube defects: an evaluation of genetic risk and the relative importance of the genotypes of the embryo and the mother. | Biological sciences | James L. Mills, Anne M. Molloy, John M. Scott, Donald G. Weir, Peadar N. Kirke, Denis C. Shields, Dorothy Ramsbottom, Helen Burke, Alexander S. Whitehead | |||
| The transmission/disequilibrium test and parental-genotype reconstruction: the reconstruction-combined transmission/disequilibrium test. | Biological sciences | Michael Knapp | |||
| The X chromosome and recurrent spontaneous abortion: the significance of transmanifesting carriers.(Sex Chromosome Genetics '99) | Biological sciences | Eric P. Hoffman, W. Allen Hogge, Mark C. Lanasa | |||
| Toward an understanding of the cause of mitral valve prolapse.(Editorial) | Biological sciences | Jeffrey A. Towbin | |||
| Tracing the origin of HLA-DRB1 alleles by microsatellite polymorphism. | Biological sciences | Henry A. Erlich, Tomas F. Bergstrom, Hans Engkvist, Rikard Erlandsson, Agnetha Josefsson, Steven J. Mack, Ulf Gyllenstein | |||
| Transcription-coupled repair of DNA damage: unanticipated players, unexpected complexities.(DNA Repair '99) | Biological sciences | Steven A. Leadon | |||
| Transmission of a fully functional human neocentromere through three generations. | Biological sciences | William C. Earnshaw, Chris Tyler-Smith, Arpita Pandya, Peter E. Warburton, Giorgio Gimelli, Orsetta Zuffardi, Sabrina Giglio, Giovanna Floridia, Gianluigi Terzoli | |||
| Transmitting genetic risk information in families: attitudes about disclosing the identity of relatives.(Statistical Data Included) | Biological sciences | ||||
| Unlinking tumor necrosis factor biology from the major histocompatibility complex: lessons from human genetics and animal models.(Immunogenetics '99)(Statistical Data Included) | Biological sciences | Sigrid R. Ruuls, Jonathon D. Sedgwick | |||
| Use of unlinked genetic markers to detect population stratification in association studies. | Biological sciences | Jonathan K. Pritchard, Noah A. Rosenberg | |||
| Visuospatial construction. | Biological sciences | Carolyn B. Mervis, John R. Pani, Byron F. Robinson | |||
| When less is more: gene loss as an engine of evolutionary change.(Molecular Evolution '99) | Biological sciences | Maynard V. Olson | |||
| Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes. | Biological sciences | Julia Grant, Annette Karmiloff-Smith, Mayada Tassabehji, Kay Metcalfe, Martin J. Carette, Nick Dennis, W. Reardon, Miranda Splitt, Andrew P. Read, Dian Donnal | |||
| X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene. | Biological sciences | A. Poustka, S.W. Knight, N.S. Heiss, T.J. Vulliamy, S. Greschner, G. Stavrides, G.S. Pai, G. Lestringant, N. Varma, P.J. Mason, I. Dokal | |||
| X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats. | Biological sciences | Peter Beighton, Rajkumar S. Ramesar, Andrea Ballabio, Giuseppe Borsani, Maria T. Bassi, Barbara Caciotti, Ingrid M. Winship, Alessandro De Randi, Mirko Riboni, Philip L. Townes | |||
| Yeast as a model for human mtDNA replication.(mitochondrial DNA) | Biological sciences | Gerald S. Shadel | |||
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