American Journal of Human Genetics 2007 - Abstracts
| American Journal of Human Genetics 2007 | |||||
| Title | Subject | Authors | |||
|---|---|---|---|---|---|
| A Bayesian approach to copy-number-polymorphism analysis in nuclear pedigrees. | Biological sciences | M. Dawn Teare, Konstantina Kosta, Robert J. Nibbs, John Tsanakas, Moira K. Whyte, Ian Sabroe, Jonathan Goke | |||
| A Bayesian measure of the probability of false discovery in genetic epidemiology studies. | Biological sciences | Jon Wakefield | |||
| A Chromosome 11q quantitative-trait locus influences change of blood-pressure measurements over time in Mexican Americans of the San Antonio Family Heart Study. | Biological sciences | Larry D. Atwood, John Blangero, Harald H.H. Goring, V. Saroja Voruganti, Guowen Cai, Shelley A. Cole, Jean W. MacCluer, Anthony G. Comuzzie, Joanne E. Curran, Eric K. Moses, Sue Rutherford, Jeremy B. Jowett, Raul A. Bastarrachea, Juan C. Lopez-Alvarenga, Mathew P. Johnson, Thomas D Dyer, Jack W. Jr Kent, J Michael Proffitt | |||
| A common haplotype in the G-protein-coupled receptor gene GPR74 is associated with leanness and increased lipolysis.(Report) | Biological sciences | Torben Hansen, Peter Arner, Torben Jorgensen, Markku Laakso, Oluf Pedersen, Lennart Blomqvist, Juha Kere, Ingrid Dahlman, Andrea Dicker, Hong Jiao, Vaness Van Harmelen, Johan Hoffstedt, Knut Borch-Johnsen | |||
| A comprehensive analysis of common copy-number variations in the human genome.(Report) | Biological sciences | Evan E. Eichler, Carolyn J. Brown, Ze Cheng, Kendy K. Wong, Ronald J. DeLeeuw, Nirpjit S. Dosanjh, Lindsey R. Kimm, Douglas E. Horsman, Calum MacAulay, Raymond T. Ng, Wan L. Lam | |||
| A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy.(Report) | Biological sciences | Thorsten Marquardt, Christian Kranz, Christoph Jungeblut, Jonas Denecke, Anne Erlekotte, Christina Sohlbach, Volker Debus, Hans Gerd Kehl, Erik Harms, Anna Reith, Sonja Reichel, Helfried Grobe, Gerhard Hammersen, Ulrich Schwarzer | |||
| A defect in the Ionotropic Glutamate Receptor 6 Gene (GRIK2)is associated with autosomal recessive mental retardation.(Clinical report) | Biological sciences | Dietmar Schmitz, Reinhard Ullmann, Mohammad Mahdi Motazacker, Hans Hilger Ropers, Hossein Najmabadi, Andreas Walter Kuss, Andreas Tzchach, Lars Riff Jensen, Saeid Hosseini Amini, Chandan Goswami, Kimia Kahrizi, Sedigheh Seyedeh Abedini, Sahar Esmaeeli Nieh, Benjamin Rainer Rost, Tim Hucho, Masoud Garshasbi | |||
| Admixture mapping of an allele affecting interleukin 6 soluble receptor and interleukin 6 levels. | Biological sciences | Joseph M. Zmuda, Nick Patterson, Elad Ziv, Tamara Harris, Steve Cummings, Robert Ferrell, David Reich, Melissa Garcia, Philip L. De Jager, Vijaya Ramesh, Gavin J. McDonald, Arti Tandon, Edwin Choy, Donglei Hu, Bani Tamraz, Ludmila Pawlikowska, Christina Wassel-Fyr, Scott Huntsman, Alicja Walisewska, Elizabeth Rossin, Rongling Li, Alexander Reiner, Pui-Yan Kwok | |||
| A functional polymorphism in COL11A1, which encodes the [alpha]1 chain of type XI collagen, is associated with susceptibility to lumbar disc herniation. | Biological sciences | Masaki Mori, Yoshiharu Kawaguchi, Kouichi Ozaki, Toshihiro Tanaka, Shiro Ikegawa, Yoshiaki Toyama, Futoshi Mio, Kazuhiro Chiba, Yuichiro Hirose, Yasuo Mikami, Takeshi Oya, Michihiro Kamata, Morio Matsumoto, Atsushi Takahashi, Toshikazu Kubo, Tomoatsu Kimura | |||
| A generalized combinatorial approach for detecting gene-by-gene and gene-by-environment interactions with application to nicotine dependence.(Report) | Biological sciences | Robert C. Elston, Jennie Z. Ma, Jun Zhu, Xiang-Yang Lou, Guo-Bo Chen, Lei Yan | |||
| A genetic association study of chromosome 11q22-24 in two different samples implicates the FXYD6 gene, encoding phosphohippolin, in susceptibility to Schizophrenia. | Biological sciences | David St. Clair, Khalid Choudhury, Andrew McQuillin, Vinay Puri, Jonathan Pimm, Susmita Datta, Nicholas J. Bass, Digby Quested, Caroline Crombie, Gillian Fraser, Nicholas Walker, Hugh M.D. Gurling, Srinivasa Thirumalai, Robert Krasucki, Jacob Lawrence, Haitham Nadeem, Sophie Johnson, David Curtis | |||
| A genomewide admixture map for Latino populations.(Report) | Biological sciences | Francisco M. Salzano, Nick Patterson, Cheryl Winkler, David R. Cox, Brian Henderson, Christine Schirmer, Andres Ruiz-Linares, Maria Catira Bortolini, Christopher A. Haiman, Gabriel Bedoya, Constanza Duque, David Reich, Gavin J. McDonald, Arti Tandon, Alkes L. Price, Fuli Yu, Marta Menjivar, Willaim Klitz, Tusie-Luna Teresa, Alberto Villegas, Carla Gallo, Guido Mazzotti, Marcela Tello-Ruiz, Laura Riba, Carlos A. Aguilar-Salinas, Samuel Canizales-Quinteros, Alicja Waliszewska, Julie Neubauer | |||
| A genomewide admixture mapping panel for Hispanic/Latino populations.(Report) | Biological sciences | Lorna G. Moore, Mark D. Shriver, Enrique Vargas, Xianyun Mao, Fabiola Leon-Velarde, Rui Mei, Abigail W. Bigham, Gerardo Gutierrez, Paul M. Mckeigue, Esteban J. Parra, Ken M. Weiss, Tom D. Brutsaert | |||
| A genomewide association study of skin pigmentation in a south Asian population. | Biological sciences | Carl Jarman, David R. Cox, David A. Hinds, Renee P. Stokowski, Krishna P.V. Pant, Tony Dadd, Amelia Fereday, Wendy Filsell, Rebecca S. Ginger, Martin R. Green, van der Ouderaa Frans J. | |||
| A genomewide screen for late-onset Alzheimer disease in a genetically isolated Dutch population. | Biological sciences | Christine Van Broeckhoven, Ben A. Oostra, Kristel Sleegers, Fan Liu, Alejandro Arias-Vasquez, Yurii S. Aulchenko, Manfred Kayser, Pascual Sanchez-Juan, Bing-Jian Feng, Aida M. Bertoli-Avella, Johnc Van Swieten, Tatiana I. Axenovich, Peter Heutink, Cornelia M. Van Duijn | |||
| A genomewide single-nucleotide-polymorphism panel for Mexican American admixture mapping.(Report) | Biological sciences | Peter K. Gregersen, William C. Knowler, John W. Belmont, Chao Tian, David A. Hinds, Russell Shigeta, Dennis G. Ballinger, Michael F. Seldin, Sharon G. Adler, Annette Lee, Madeleine V. Pahl, Gabriel Silva, Robert L. Hanson | |||
| A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram Syndrome 2. | Biological sciences | Min Zhang, Sami Amr, Arti Pandya, Leslie S. Satin, Hatem El-Shanti, Rita Shiang, Xia-Juan Xia, Kathryn H. Shows, Kamel Ajlouni, Cindy Heisey | |||
| ALAD porphyria is a conformational disease. | Biological sciences | Eileen K. Jaffe, Linda Stith | |||
| A large-scale genetic association study confirms IL12B and leads to the identification of IL23R as psoriasis-risk genes. | Biological sciences | Michele Cargill, Gerald G. Krueger, Thomas J. White, Ann B. Begovich, Stephen M. Prescott, Mark F. Leppert, Daniel Civello, Christopher B. Hansen, Kristina P. Callis, Jason Papenfuss, Kristin G. Ardlie, Steven J. Schrodi, Monica Chang, Veronica E. Gracia, Rhonda Brandom, Nori Matsunami, Joseph J. Catanese, Diane U. Leong, Jackie M. Panko, Linda B. McAllister | |||
| Allele-specific targeting of microRNAs to HLA-G and risk of asthama. | Biological sciences | James E. Gern, Robert F. Lemanske, Julian Solway, Glenn Randall, Zheng Tan, Dan Jr Nicolae, Lin Pan, Blanca Camoretti-Mercado, Rebacca Brockman-Schneider, Jihua Fan | |||
| A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression burst pattern (Ohtahara syndrome). | Biological sciences | Mitsuhiro Kato, Shinji Saitoh, Atsushi Kamei, Hideaki Shiraishi, Yuki Ueda, Kiyoshi Hayasaka, Manami Akasaka, Jun Tohyama, Noriyuki Akasaka | |||
| A mitochondrial stratigraphy for Island Southeast Asia.(Report) | Biological sciences | Martin Richards, Stephen Oppenheimer, Catherine Hill, Pedro Soares, Maru Mormina, Vincent Macaulay, Dougie Clarke, Petya B. Blumbach, Matthieu Vizuete-Forster, Peter Forster, David Bulbeck | |||
| A mutation in CCDC50, a gene encoding an effector of epidermal growth factor-mediated cell signaling, causes progressive hearing loss.(Report) | Biological sciences | Silvia Modamio-Hoybjor, Angeles Mencia, Richard Goodyear, Ignacio Del Castillo, Guy Richardson, Felipe Moreno, Miguel Angel Moreno-Pelayo | |||
| An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): Evidence of a clinically significant NF1 genotype-Phenotype correlation.(Report) | Biological sciences | H. Li, M. Upadhyaya, S.M. Huson, N. Thomas, E. Howard, M. Davies, N. Chuzhanova, S. Giovannini, D.G. Evans, B. Kerr, S. Griffiths, C. Consoli, L. Side, D. Adams, M. Pierpont, R. Hachen, A. Barnicoat, P. Wallace, J.P. Van Biervliet, D. Stevenson, D. Viskochil, D. Baralle, E. Haan, V. Riccardi, P. Turnpenny, C. Lazaro, L. Messiaen | |||
| An evaluation of power and type I error of single-nucleotide polymorphism transmission/disequilibrium-based statistical methods under different family structures, missing parental data, and population stratification.(Report) | Biological sciences | Kristin K. Nicodemus, Augustin Luna, Yin Yao Shugart | |||
| A new genetic disorder in mitochondria fatty acid [beta]-oxidation: ACAD9 deficiency. | Biological sciences | R.D. Nicholls, M. He, S.L. Rutledge, D.R. Kelly, C.A. Palmer, G. Murdoch, N. Majumder, Z. Pei, P.A. Watkins, J. Vockley | |||
| A new subtype of Brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN. | Biological sciences | P. Seemann, S. Mundlos, B. Kerr, K. Lehmann, C. Reissner, A.O.M. Wilkie, K.W. Kjaer, S. Kjaergaard, M.J. Mahoney, S. Marlot, F. Silan, S. Irgang, T.O. Goecke | |||
| An LRP8 variant is associated with familial and premature coronary artery disease and myocardial infarcation. | Biological sciences | Eric J. Topol, Domenico Girelli, Stanley L. Hazen, Edward F. Plow, Lin Li, Jing Li, Shaoqi Rao, Robert Elston, Ying Hu, Gong-Quing Shen, Quing K Wang, June Cassano, Susan Henderson, Kandice Marchant, John Barnard, Roberto Correcher, Jeong Euy Park, Quansheng Xi, Oliviero Olivieri, Sara B. Seidelmann, Chun Fan | |||
| A novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular cardiomyopathy.(Report) | Biological sciences | William J. McKenna, Thomas Wichter, Angeliki Asimaki, Petros Syrris, Paul Matthias, Jeffrey E. Saffitz | |||
| A randomization test for controlling population stratification in whole-genome association studies.(Report) | Biological sciences | Ron Shamir, Gad Kimmel, Eran Halperin, Michael I. Jordan, Richard M. Karp | |||
| Arthur G. Steinberg, 1912-2006.(Obituary) | Biological sciences | Trefor Jenkins | |||
| Arts syndrome is caused by loss-of-function mutations in PRPS1. | Biological sciences | Ben C.J. Hamel, Michael Egmont-Peterson, Hans van Bokhoven, Arjan P.M. de Brouwer, Kelly L. Williams, John A. Duley, Andre B.P. van Kuilenburg, Sander B. Nabuurs, Dorien Lugtenberg, Lida Zoetekouw, Martijn J.G. Banning, Melissa Roeffen, Linda Weaving, Robert A. Ouvrier, Jennifer A. Donald, John Christodoulou, Ron A. Wevers | |||
| A simple and improved correction for population stratification in case-control studies. | Biological sciences | Glen A. Satten, Michael P. Epstein, Andrew S. Allen | |||
| Assessing the functional characteristics of synonymous and nonsynonymous mutation candidates by use of large DNA constructs. | Biological sciences | A.M. Eeds, D. Mortlock, R. Wade-Martins, M.L. Summar | |||
| Association mapping via regularized regression analysis of single-nucleotide-polymorphism haplotypes in variable-sized sliding windows. | Biological sciences | Yi Li, Wing-Kin Sung, Jian Jun Liu | |||
| A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRACA2 breast cancer-predisposition genes.(Report) | Biological sciences | Fergus J. Couch, Richard J. Wenstrup, David E. Goldgar, Dmitry Pruss, Edwin S. Iversen, Amie M. Deffenbaugh, Douglas F. Easton, Cynthia Frye, Kristina Allen-Brady, Sean V. Tavtigian, Alvaro N.A. Monteiro | |||
| A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation. | Biological sciences | Nicholas G. Martin, Grant W. Montgomery, Wei Chen, David L. Duffy, Zhen Zhen Zhao, Lien Le, Michael R. James, Nicholas K. Hayward, Richard A. Sturm | |||
| Autosomal dominant nonsyndromic cleft lip and palate: Significant evidence of linkage at 18q21.1. | Biological sciences | Stylianos E. Antonarakis, Uppala Radhakrishna, Uppala Ratnamala, Soraya Beiraghi, David Hutchings, Gregory S. Antonarakis, Swapan K. Nath, Matthew Gaines, Desh D. Mandhyan, Ken McElreavey, Lucia Bartoloni | |||
| Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase.(Report) | Biological sciences | Eli Sprecher, Mordechai Shohat, Akemi Ishida-Yamamoto, Margarita Indelman, Lina Basel-Vanagaite, Revital Attia, Limor Rainshtein, Dan Ben Amitai, Raziel Lurie, Metsada Pasmanik-Chor, Alex Zvulunov, Shirley Saban, Nurit Magal | |||
| Bayesian mapping of quantitative trait loci for multiple complex traits with the use of variance components. | Biological sciences | Hong-Wen Deng, Jianfeng Liu, Yongjun Liu, Xiaogang Liu | |||
| Case-control association testing with related individuals: a more powerful quasi-likelihood score test. | Biological sciences | Timothy Thornton, Mary Sara Mcpeek | |||
| Cellular and clinical impact of haploinsufficiency for genes involved in ATR signaling.(Ataxia Telangiectasia and Rad3-related) | Biological sciences | Mark O'Driscoll, William B. Dobyns, Johanna M. Van Hagen, Penny A. Jeggo | |||
| CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders.(Clinical report) | Biological sciences | Hulya Kayserili, Bruno Dallapiccola, Raoul C. Hennekam, Elisa Fazzi, David H. Viskochil, Lihadh Al-Gazali, Enza Maria Valente, Stephane Romano, Francesco Brancati, Dominika Zablocka, Maria Amorini, Jennifer L. Silhavy, Stephanie L. Bielas, Lorena Travaglini, Sarah E. Marsh, Giudeppe Barrano, Enrico Bertini, Eugen Bolthauser, Marc D'Hooge, Elif Y. Fenerci, Andrea Kiss, Melissa M. Lees, Elysa Marco, Shubha R. Phadke, Luciana Rigoli, Laszlo Sztriha, Bernard Stuart, Petter Stromme, Sabrina Signorini, Elliott H. Sherr, Carmelo D. Salpietro, Adnan Yuksel, Joseph G. Gleeson | |||
| CGG-repeat expansion in the DIP2B gene is associated with the fragile site FRA12A on chromosome 12q13.1. | Biological sciences | David R. FitzPatrick, Birgitta Winnepenninckx, Kim Debacker, Jacqueline Ramsay, Dominique Smeets, Arie Smits, Frank R. Kooy | |||
| Characterization of Potocki-Lupski Syndrome (dup(17)(p11.2p11.2)) and delineation of dosage-sensitive critical interval that can convey an autism phenotype. | Biological sciences | Richard Alan Lewis, James R. Lupski, Weimin Bi, Lorraine Potocki, Diane Treadwell-Deering, Claudia M.B. Carvalho, Anna Eifert, Ellen M. Frieman, Daniel Glaze, Kevin Krull, Jennifer A. Lee, Roberto Mendoza-Londono, Patricia Robbins- Furman, Chad Shaw, Xin Shi, George Weissenberger, Marjorie Withers, Svetlana A. Yatsenko, Elaine H. Zackai, Pawel Stankiewicz | |||
| CHD7 gene polymorphisms are associated with susceptibility to idiopathic scoliosis. | Biological sciences | Michael Lovett, Derek Gordon, Xiaohong Gao, Dongping Zhang, Richard Browne, Cynthia Helms, Joseph Gillum, Samuel Weber, Shonn Devroy, Saralove Swaney, Matthew Dobbs, Jose Morcuende, Val Sheffield, Anne Bowcock, John Herring, Carol Wise | |||
| CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q. | Biological sciences | Phyllis I. Hanson, Alan Shiels, Thomas M. Bennet, Harry L.S. Knopf, Koki Yamada, Koh-ichiro Yoshiura, Soomin Shim, Norio Niikawa | |||
| Classification of human chromosome 21 gene-expression variations in Down syndrome: impact on disease phenotypes. | Biological sciences | E. Ait Yahya-Graison, J. Aubert, L. Dauphinot, I. Rivals, M. Prieur, G. Golfier, J. Rossier, L. Personnaz, N. Creau, H. Blehaut, S. Robin, J.M. Delabar, M.C. Potier | |||
| Clinical expression of Leber Heredity Optic Neuropathy is affected by the mitochondrial DNA-haplogroup background. | Biological sciences | Massimo Zeviani, Antonio Torroni, Neil Howell, Gavin Hudson, Patrick F. Chinnery, Rita Horvath, Alessandro Achilli, Valerio Carelli, Gerards Mike Spruijt, Catherine Mowbray, Angela Pyle, Joanna Elson, Chiara La Morgia, Maria Lucia Valentino, Kirsi Huoponen, Marja-Liisa Savontaus, Eva Nikoskelainen, Alfredo A. Sadun, Solange R. Salomao, Jr. Rubens Belfrot, Philip Griffiths, Patrick Yu Wai Man, Rene F. M. de Coo, Hubert J. T. Smeets | |||
| Combining evidence of natural selection with association analysis increases power to detect malaria- resistance variants. | Biological sciences | Nick Patterson, David Reich, Alkes L. Price, George Ayodo, Alloys S. S. Orago, Alon Keinan, Michael F. Otieno, Arthur Ajwang | |||
| Common single-nucleotide polymorphisms act in concert to affect plasma levels of high-density lipoprotein cholesterol. | Biological sciences | Richard S. Cooper, Jonathan C. Cohen, Shamil R. Sunyaev, Steffen Schmidt, Victor Spirin, Alexander Pertsemlidis | |||
| Common variants in the BMP2, BMP4, and HJV genes of the Hepcidin regulation pathway modulate HFE hemochromatosis penetrance. | Biological sciences | Jean Mosser, Jacqueline Milet, Valerie Dehais, Catherine Bourgain, Anne Marie Jouanolle, Annick Mosser, Michele Perrin, Jeff Morcet, Pierre Brissot, Veronique David, Yves Deugnier | |||
| Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. | Biological sciences | Hans-Hilger Ropers, Andre Megarbane, Stefan Mundlos, Eva Klopocki, Harald Schulze, Gabriele Straub, Claus-Eric Ott, Judith Hall, Fabienne Trotier, Silke Fleischhauer, Lynn Greenhalgh, Ruth A. Newbury-Ecob, Luigard M. Neumann, Rolf Habenicht, Rainer Konig, Eva Seemanova, Reinhard Ullmann, Denise Horn | |||
| Contribution of SHANK3 mutations to autism spectrum disorder. | Biological sciences | Peter Szatmari, Lonnie Zwaigenbaum, Stephen W. Scherer, John Vincent, Wendy Roberts, Christian R. Marshall, Bridget Fernandez, Rainald Moessner, James S. Sutcliffe, Jennifer Skaug, Dalila Pinto | |||
| Conversion and compensatory evolution of the [gamma]-crystallin genes and identification of a cataractogenic mutation that reverses the sequence of the human CRYGD gene to an ancestral state. | Biological sciences | Fyodor A. Kondrashov, Olga V. Plotnikova, Peter K. Vlasov, Anastasia P. Grigorenko, Evgeny K. Ginter, Evgeny I. Rogaev | |||
| Correlation of intergenerational family sizes suggests a genetic component of reproductive fitness. | Biological sciences | Carole Ober, Mary Sara McPeek, Anna Pluzhnikov, Daniel K. Nolan, Zhiqiang Tan | |||
| Cowden syndrome-affected patients with PTEN promoter mutations demonstrate abnormal protein translation. | Biological sciences | Charis Eng, Marcus G. Pezzolesi, Rosemary E. Teresi, Kristian A. Waite, Kevin M. Zbuk | |||
| Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1.(Clinical report) | Biological sciences | Christian Becker, Frank Rutsch, Antonio Cao, Wolfgang Hohne, Anita Rauch, Gudrun Nurnberg, Peter Nurnberg, Laura Crisponi, Giangiorgio Crisponi, Alessandra Meloni, Mohammad Reza Toliat, Gianluca Usala, Manuela Uda, Marco Masala, Mara Marongiu, Francesca Chiappe, Robert Kleta, Bernd Wollnik, Friedrich Strasser, Thomas Reese, Jakobs Cornelis, Gerd Kurlemann | |||
| Deficiency of the [alpha] subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion. | Biological sciences | Elsebet Ostergaard, Morten Duno, Flemming Wibrand, Eric. A. Shoubridge, Ernst Christensen, Elisabeth Kristensen, Bodill Mogensen | |||
| Defining the cause of skewed X-chromosome inactivation in X-linked mental retardation by use of a mouse model.(Report) | Biological sciences | Mary R. Muers, Jacqueline A. Sharpe, David Garrick, Jacqueline Sloane-Stanley, Douglas Higgs R., Richard J. Gibbons, Patrick M. Nolan, Terry Hacker, Willaim G. Wood | |||
| Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene ids associated with pontocerebellar hypoplasia. | Biological sciences | Orly Elpeleg, Simon Edvarson, Avraham Shaag, Olga Kolesnikova, John Moshe Gomori, Ivan Tarassov, Tom Einbinder, Ann Saada | |||
| Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4. | Biological sciences | Michel Goossens, William Reardon, Annick Toutain, Jeanne Amiel, Laure Stanchina, Viviane Baral, Veronique Pingault, Nadege Bondurand, Pierre Sarda, Tania Attie-Bitach, Florence Dastot-Le Moal, Nathalie Collot, Sandrine Marlin, Irina Giurgea, Laurent Skopinski, Anis Echaieb, Marilyn Lackmy-Port-Lis, Renaud Touraine | |||
| Deletions in CCM2 are a common cause of cerebral cavernous malformations.(Report) | Biological sciences | Douglas A. Marchuk, Christina L. Liquori, Michel J. Berg, Ferdinando Squitieri, Tracey P. Leedom, Louis Ptacek, Eric W. Johnson | |||
| Disruption of diacylglycerol kinase delta (DGKD) associated with seizures in humans and mice.(Report) | Biological sciences | David J. Harris, James F. Gusella, Andrew J. Cole, Cynthia C. Morton, Natalia T. Leach, Bruce R. Korf, Bradley J. Quade, Yi Zheng, Keith L. Ligon, Richard L. Maas, Weining Lu, Yi Sun, Sebastien Michaud, Azra H. Ligon, Thomas Sander, Max B. Kelz | |||
| Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux. | Biological sciences | Yi Rao, James F. Gusella, Cynthia C. Morton, Michael R. Eccles, James R. Lupski, Bradley J. Quade, Weimin Bi, Damien Sanlaville, Richard L. Maas, Jiong Yan, Weining Lu, Albertien M. van Eerde, Xueping Fan, Fabiola Quitero-Rivera, Shashikant Kulkarni, Heather Ferguson, Hyung-Goo Kim, Yanli Fan, Qiongchao Xi, Qing-Gang Li, William Andrews, Vasi Sundaresan, Jacques C. Giltay, Tom P.V.M. de Jong, Sally A. Feather, Adrian S. Woolf, Cisa Wijmenga | |||
| DLX5 and DLX6 expression is biallelic and not modulated by MeCP2 deficiency. | Biological sciences | Uta Francke, Birgitt Schule, Hong Hua Li, Claudia Fisch-Kohl, Carolin Purmann | |||
| DNA methylation signatures within the human brain. | Biological sciences | Andrew P. Feinberg, Jonathan Pevsner, Pauline A. Callinan, Christine Ladd-Acosta, Sarven Sabunciyan, Robert H. Yolken, Maree J. Webster, Tiffany Dinkins, Jian-Bing Fan, James B. Potash | |||
| Effect of mutation type and location on clinical outcome in 1,013 probands with marfan syndrome or related phenotypes and FBN1 mutations: an international study. | Biological sciences | D. Halliday, L. Faivre, G. Collod-Beroud, B.L. Loeys, A. Child, C. Binquet, E. Gautier, B. Callewaert, E. Arbustini, K. Mayer, M. Arslan-Kirchner, A. Kiotsekoglou, P. Comeglio, N. Marziliano, H.C. Dietz, C. Beroud, C. Bonithon-Kopp, M. Claustres, C. Muti, H. Plauchu, P.N. Robinson, L.C. Ades, A. Biggin, B. Benetts, M. Brett, K.J. Holman, J. De Backer, P. Coucke, U. Francke, A. De Paepe, G. Jondeau, C. Boileau | |||
| Efficient association mapping of quantitative trait loci with selective genotyping.(Report) | Biological sciences | B.E. Huang, D.Y. Lin | |||
| Enhanced response to enzyme replacement therapy in Pompe disease after the induction of immune tolerance.(Report) | Biological sciences | Baodong Sun, Andrew Bird, Sarah P. Young, Priya S. Kishnani, Y.-T. Chen, Dwight D. Koeberl | |||
| Enriching the analysis of genomewide association studies with hierarchical modeling. | Biological sciences | John S. Witte, Gary K. Chen | |||
| Evidence of amino acid diversity-enhancing selection within humans and among primates at the candidate sperm-receptor gene PKDREJ. | Biological sciences | Charles F. Aquadro, Mariana F. Wolfner, David Hamm, Brian S. Mautz, Willie J. Swanson | |||
| Evidence of positive selection on a class I ADH locus.(alcohol dehydrogenase )(Report) | Biological sciences | Kenneth K. Kidd, Yi Han, Sheng Gu, Hiroki Oota, Michael V. Osier, Andrew J. Pakstis, William C. Speed, Judith R. Kidd | |||
| Evidence of still ongoing convergence evolution of the lactase persistence [T.sub.-13910] alleles in humans. | Biological sciences | Leena Peltonen, Leif Groop, Erkki Savilahti, Salvatore Auricchio, Luigi Greco, Irma Jarvela, Nabil Sabri Enattah, Aimee Trudeau, Ville Pimenoff, Luigi Maiuri, Mauro Rossi, Michael Lentze, J.K. Seo, Soheila Rahgozar, Insaf Khalil, Michael Alifrangis, Sirajedin Natah, Nael Shaat, Andrew Kozlov, Galina Verschubskaya, David Comas, Kazima Bulayeva, S.. Qasim Mehdi, Joseph D. Terwilliger, Timo Sahi, Markus Perola, Antti Sajantila | |||
| Evolutionary conservation of a coding function for D4Z4, the tandem DNA repeat mutated in Facioscapulohumeral muscular dystrophy . | Biological sciences | ||||
| Family-based association tests for genomewide association scans.(Report) | Biological sciences | Goncalo R. Abecasis, Wei-Min Chen | |||
| Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement. | Biological sciences | William Reardon, Andrea Ballabio, Peter J. Milla, Annagiusi Gargiulo, Renata Auricchio, Maria Vittoria Barone, Gabriella Cotugno, Alfredo Ciccodicola, Alberto Auricchio | |||
| Fine mapping versus replication in whole-genome association studies.(Report) | Biological sciences | Lyle J. Palmer, Andrew P. Morris, Lon R. Cardon, Geraldine M. Clarke, Kim W. Carter | |||
| First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure.(Report) | Biological sciences | Wim Vermeulen, Jan H.J. Hoeijmakers, Laura J. Niedernhofer, Deborah Hoogstraten, Anja Raams, Andria Rasile Robinson, Wim J. Kleijer, Nicolas G.J. Jaspers, Margherita Cirillo Silengo, Nils Wijgers, Giuseppina Giglia-Mari | |||
| Flexible design for following up positive findings. | Biological sciences | Sholom Wacholder, Nathaniel Rothman, Sophia Wang, Nilanjan Chatterjee, Kai Yu, William Wheeler, Qizhai Li | |||
| Functional variants in the promoter region of chitinase 3-like 1 (CHI3L1) and susceptibility to schizophrenia.(Report) | Biological sciences | Jing Zhang, Gang Ma, Guoyin Feng, Xinzhi Zhao, Ruqi Tang, Bo Gao, Yongyong Shi, Jian Zhou, Shengzhen Guo, Yabing Wang, Wei Tang, Junwei Ming, Sheng Li, Hongsheng Wang, Chuwen Lin, Yue Xiao, Zhiguang Lin, Shaomin Zhu, Yangling Xing, Hong Sang, David St. Clair | |||
| GDF6, a novel locus for a spectrum of ocular developmental anomalies. | Biological sciences | Veronica van Heyningen, Mika Asai-Coakwell, Curtis R. French, Karyn M. Berry, Ming Ye, Ron Koss, Martin Somerville, Rosemary Mueller, Andrew J. Waskiewicz, Ordan J. Lehmann | |||
| Gene copy-number variation and associated polymorphisms of complement component C4 in human systemic lupus erythematosus (SLE): Low copy number is a risk factor for and high copy number is a protective factor against SLE susceptibility in European Americans.(Report) | Biological sciences | Haikady N. Nagaraja, Jennifer M. Grossman, Yan Yang, Erwin K. Chung, Yee Ling Wu, Robert A.S. Roubey, Betty P. Tsao, Daniel J. Birmingham, Brad H. Rovin, Lee A. Hebert, C. Yung Yu, Stephanie L. Savelli, Gloria C. Higgins, Robert M. Rennebohm, Robert R. Rice, Kevin V. Hackshaw, Bi Zhou, Maddie Hebert, Karla N. Jones, Yaoling Shu, Kathryn Kitzmiller, Carol A. Blanchong, Kim L. McBride | |||
| Gene-expression variation within and among human populations.(Report) | Biological sciences | John D. Storey, Jennifer Madeoy, Jeanna L. Strout, Mark Wurfel, James Ronald, Joshua M. Akey | |||
| Gene-gene and gene-environment interactions involving HLA-DRB1, PTPN22, and smoking in two subsets of rheumatoid arthritis. | Biological sciences | Lars Klareskog, Robert M. Plenge, Henrik Kallberg, Leonid Padyukov, Johan Ronnelid, Peter K. Grefersen, Annette H.M. van der Helm-van Mil, Rene E.M. Toes, Tom W. Huizinga, Lars Alfredsson | |||
| Gene tests: integrating genetic services into patient care. | Biological sciences | Roberta A. Pagon | |||
| Genetic analysis of 103 candidate genes for coronary artery disease and associated phenotypes in a founder population reveals a new association between Endothelin-1 and high density lipoprotein cholesterol. | Biological sciences | Sonia S. Anand, Alexandre Montpetit, Thomas J. Hudson, Daniel Gaudet, David Serre, Guillaume Pare, Gerald Tremblay, James C. Engert, Diane Brisson | |||
| Genetic basis for correction of very-long-chain acyl-coenzyme a dehydrogenase deficiency by bezafibrate in patient fibroblasts: toward a genotype-based therapy. | Biological sciences | R.J.A. Wanders, Gobin-Limballe S., Djouadi F., Aubey F., Olpin S., B.S. Andresen, Yamaguchi S., Mandel H., T. Fukao, J.P.N. Ruiter, McAndrew R., J.J. Kim, Bastin J. | |||
| Genetic factors in congenital diaphragmatic hernia. | Biological sciences | B. Lee, D. Tibboel, A.M. Holder, M. Klaassens, A. de Klein, D.A. Scott | |||
| Genetic linkage to chromosome 22q12 for a heavy-smoking quantitative trait in two independent samples.(Clinical report) | Biological sciences | Jaakko Kaprio, Nicholas G. Martin, Leena Peltonen, Pamela A.F. Madden, Richard D. Todd, Jen C. Wang, Alison M. Goate, Andrew C. Heath, Grant W. Montgomery, Alexandre A. Todorov, Michele L. Pergadia, Scott F. Saccone, Anu Loukola, Ulla Broms, Arpana Agrawal, Danielle M. Dick, Heidi Maunu, Kauko Heikkila, Katherine I. Morely, John P. Rice | |||
| Genome scan for tourette disorder in affected-sibling-pair and multigenerational families. | Biological sciences | ||||
| Genome scanning by composite likelihood.(Report) | Biological sciences | Weihua Zhang, Newton Morton, Nikolas Maniatis, Sarah Ennis, Andrew Collins | |||
| Genomewide linkage scan for split-hand/foot malformation with long-bone deficiency in a large Arab family identifies two novel susceptibility loci on chromosomes 1q42.2-q43 and 6q14.1.(Report) | Biological sciences | Stylianos E. Antonarakis, Uppala Radhakrishna, Uppala Ratnamala, Mathew Gaines, David Hutchings, Jeffrey Golla, Mohammed Naveed, Swapan K. Nath, Mahmoud T. Al-Ali, Najib Al-Khaja, Samuel Deutsch, Armand Bottani | |||
| Genomewide scan for linkage reveals evidence of several susceptibility loci for Alopecia areata. | Biological sciences | Jurg Ott, Derek Gordon, T. Conrad Gilliam, Angela M. Christiano, Maria Hordinsky, Amalia Martinez-Mir, Abraham Zlotogorski, Lynn Petukhova, Jianhong Mo, Douglas Londono, Chad Haynes, Krassimira Nanova, David Norris, Vera Price, Madeleine Duvic | |||
| Genomewide weighted hypothesis testing in family-based association studies, with an application to a 100k scan. | Biological sciences | Nan M. Laird, Matthew B. McQueen, Iuliana Ionita-Laza, Christoph Lange | |||
| Genotype x adiposity interaction linkage analyses reveal a locus on chromosome 1 for lipoprotein-associated phospholipase [A.sub.2], a marker of inflammation and oxidative stress.(Report) | Biological sciences | Thomas D. Dyer, John Blangero, Jeff T. Williams, Shelley A. Cole, Jean W. MacCluer, Anthony G. Comuzzie, Vincent P. Diego, David L. Rainwater, Xing-Li Wang, Joanne E. Curran, Matthew P. Johnson, Jeremy B.M. Jowett, Eric K. Moses, Michael C. Mahaney | |||
| Geographically separate increases in the frequency o f the derived ADH1B*47His allele in eastern and western Asia. | Biological sciences | Kenneth K. Kidd, Hui Li, Judith R. Kidd, Qasim S. Mehdi, Shagufta Khaliq, Aisha Mohyuddin, Sylvester L.B. Kajuna, Usha Soundararajan, Zsanett Tarnok, Csaba Barta, Namita Mukherjee | |||
| Germline mutation of INI1/SMARCB1 in familial schwannomatosis.(Report) | Biological sciences | Theo J.M. Hulsebos, Astrid S. Plomp, Ruud A. Wolterman, Els C. Robanus-Maandag, Frank Baas, Pieter Wesseling | |||
| Half a century of medical genetics- where do we go from here? | Biological sciences | David L. Rimoin | |||
| Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome). | Biological sciences | William Reardon, Koen Devriendt, Monika Cohen, Raoul C.M. Hennekam, Armand Bottani, Christiane Zweier, Anita Rauch, Peter Nurnberg, Andre Reis, Maaarit M. Peippo, Juliane Hoyer, Sergio Sousa, Jill Clayton-Smith, Jorge Saraiva, Alexandra Cabral, Ina Gohring, Thomy de Ravel, Emilia K. Bijlsma, Alfredo Orrico, Alexander Dreweke | |||
| Haplotype-based association analysis via variance-components score test.(Report) | Biological sciences | Jung-Ying Tzeng, Daowen Zhang | |||
| Having it all.(Dorothy Warburton in human cytogenetics) | Biological sciences | Dorothy Warburton | |||
| Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome.(Report) | Biological sciences | Deborah E. Barnes, Tomas Lindahl, Gillian Rice, John Dean, Rekha Parmar, William G. Newman, Teresa Patrick, Kim Flintoff, Peter Robins, Scott Harvey, Thomas Hollis, Ann O'Hara, Ariane L. Herrick, Andrew P. Bowden, Fred W. Perrino, Yanick J. Crow | |||
| Highly sensitive method for genomewide detection of allelic composition in nonpaired, primary tumor specimens by use of Affymetrix single-nucleotide-polymorphism genotyping microarrays. | Biological sciences | Shigeru Chiba, Go Yamamoto, Yasuhito Nannya, Motohiro Kato, Masashi Sanada, Ross L. Levine, Norihiko Kawamata, Akira Hangaishi, Mineo Kurokawa, D.Gary Gilliland, H.Phillip Koeffler, Seishi Ogawa | |||
| High-throughput analysis of promoter occupancy reveals direct neural targets of FOXP2, a gene mutated in speech and language disorders. | Biological sciences | Simon E. Fisher, Elizabeth Spiteri, Sonja C. Vernes, Jerome Nicod, Matthias Groszer, Jennifer M. Taylor, Kay E. Davies, Daniel H. Geschwind | |||
| Homozygosity haplotype allows a genomewide search for the autosomal segments shared among patients.(Report) | Biological sciences | Tomoaki Tanaka, Hitoshi Miyazawa, Masaaki Kaot, Takuya Awata, Masakazu Kohda, Shunei Kyo, Yasushi Okazaki, Koichi Hagiwara, Hiroyasu Iwasa, Noboyuki Koyama | |||
| Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia. | Biological sciences | Stephane Viville, Astrid R. Oudakker, Anika H.D.M. Dam, Isabelle Koscinski, Jan A.M. Kremer, Celine Montou, Anne-Sophie Jaeger, Herman Tournaye, Nicolas Charlet, Clotilde Lagier-Tourenne, Hans van Bokhoven | |||
| Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontia. | Biological sciences | Hilal Ozdag, Mustafa Tekin, Burcu Ozturk Hismi, Suat Fitoz, Filiz Basak Cengiz, Aslt Sirmaci, Idil Aslan, Bora Inceoglu, Berrin E. Yuksel-Konuk, Seda Tasir Yilmaz, Oztan Yasun, Nejat Akar | |||
| Human microRNA-155 on chromosome 21 differentially interacts with its polymorphic target in the AGTR1 3' untranslated region: a mechanism for functional single- nucleotide polymorphism related to phenotypes. | Biological sciences | Maryline Gagnebin, Praveen Sethupathy, Borel, Christelle;, Sameul Deutsch, Grant, Gregory R.;, Terry S. Elton | |||
| Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions.(T-box transcription factor gene )(Report) | Biological sciences | Christine E. Campbell, Heinrich Sticht, Christiane Zweier, Inci Aydin-Yaylagul, Anita Rauch | |||
| Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotype. | Biological sciences | Eliane Gluckman, Markus Grompe, Gerard Pals, Hans Joenje, Arleen D. Auerbach, Marianne Berwick, Jordi Surralles, Elsa Callen, Reinhard Kalb, Kornelia Neveling, Holger Hoehn, Hildegard Schneider, Yvonne Linka, Sat Dev Batish, Curtis Hunt, Jose A. Casado, Juan Bueren, Angeles Dasi, Jean Soulier, Rosalina van Spaendonk, Johan P. de Winter, Helmut Hanenberg, Detlev Schindler | |||
| Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome.(Report) | Biological sciences | Richard Alan Lewis, Jean-Louis Mandel, Nicholas Katsanis, Carmen C. Leitch, Dominique Bonneau, Corrine Stoetzel, Jean Muller, Virginie Laurier, Erica E. Davis, Norann A. Zaghloul, Serge Vicaire, Cecile Jacquelin, Frederic Plewniak, Pierre Sarda, Christian Hamel, Thomy J.L. De Ravel, Evelyne Friederich, Christelle Thibault, Jean-Marc Danse, Alain Verloes, Olivier Poch, Helene Dollfus | |||
| Identification of a novel risk locus for progressive supranuclear palsy by a pooled genomewide scan of 500,288 single-nucleotide polymorphisms.(Report) | Biological sciences | Stacey Melquist, Matt Baker, Dietrich A. Stephan, Matthew J. Farrer, Mike Hutton, Richard Crook, Jennifer Gass, Ashley Cannon, Jennifer Adamson, John V. Pearson, Matthew J. Huentelman, Szabolcs Szelinger, Keith D. Coon, Victoria L. Zismann, David W. Craig, Richard J. Caselli, Jason Corneveaux, Sarah Lincoln, Charles Adler, Paul Tuite, Donald B. Calne, Eileen H. Bigio, Ryan J. Uitti, Zbigniew K. Wszolek, Lawrence I. Golbe, Neill Graff-Radford, Irene Litvan, Dennis W. Dickson | |||
| Identification of genetic variants contributing to cisplatin-induced cytotoxicity by use of a genomewide approach. | Biological sciences | M. Eileen Dolan, Tyson A. Clark, John E. Blume, R. Stephanie Huang, Shiwei Duan, Sunita J. Shukla, Emily O. Kistner, Tina X. Chen, Anthony C. Schweitzer | |||
| Identification of risk-related haplotypes with the use of multiple SNPs from nuclear families. | Biological sciences | Clarice R. Weinberg, Min Shi, David M. Umbach | |||
| Identification of the genetic basis for complex disorders by use of pooling-based genomewide single-nucleotide-polymorphism association studies.(Report) | Biological sciences | Eric M. Reiman, Stacey Melquist, Dietrich A. Stephan, John V. Pearson, Matthew J. Huentelman, Rebecca F. Halperin, Waibhav D. Tembe, Nils Homer, Marcel Brun, Szabolcs Szelinger, Keith D. Coon, Victoria L. Zismann, Jennifer A. Webster, Thomas Beach, Sigrid B. Sando, Aasly, Jan O.;, Reinhard Heun, Frank Jessen, Heike Kolsch, Magdalini Tsolaki, Makrina Daniilidou, Andreas Papassotiropoulos, Michael L. Hutton, David W. Craig | |||
| Identification of the transcriptional targets of FOXP2, a gene linked to speech and language, in developing human brain. | Biological sciences | Simon E. Fisher, Bing Ren, Elizabeth Spiteri, Genevieve Konopka, Giovanni Coppola, Jamee Bomar, Michael Oldham, Jing Ou, Sonja C. Vernes, Daniel H. Geshwind | |||
| Improved power by use of a weighted score test for linkage disequilibrium mapping. | Biological sciences | Robert C. Elston, Tao Wang | |||
| Improving power in contrasting linkage-disequilibrium patterns between cases and controls. | Biological sciences | Robert C. Elston, Tao Wang, Xiaofeng Zhu | |||
| Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu.(Report) | Biological sciences | Massimo Zeviani, Claudia Donnini, Lucia Valente, Valeria Tiranti, Rene Massimiliano Marsano, Edoardo Malfatti, Erika Fernandez-Vizarra, Paolo Mereghetti, Luca De Gioia, Alberto Burlina, Claudio Castellan, Giacomo P. Comi, Salvatore Savasta, Iliana Ferrero | |||
| Information-theoretic metrics for visualizing gene-environment interactions.(Report) | Biological sciences | Jo L. Freudenheim, Pritam Chanda, Aidong Zhang, Daniel Brazeau, Lara Sucheston, Christine Ambrosone, Murali Ramanathan | |||
| Inheritance of mitochondrial DNA recombinants in double-heteroplasmic families: Potential implications for phylogenetic analysis. | Biological sciences | Gabor Zsurka, Kevin G. Hampel, Tatiana Kudina, Cornelia Kornblum, Yevgenia Kraytsberg, Christian E. Elger, Konstantin Khrapko, Wolfram S. Kunz | |||
| Intragenic cis and trans modification of genetic susceptibility in DYT1 torsion dystonia.(Report) | Biological sciences | Neil J. Risch, Susan Bressman, Geetha Senthil, Laurie J. Ozelius | |||
| IRAK-M is involved in the pathogenesis of early onset persistent asthma.(Report) | Biological sciences | Paolo Emilio Manconi, Antonio Cao, Laura Crisponi, Manuela Uda, Marco Masala, Lenuta Balaci, Maria Cristina Spada, Giovanni Malerba, Andrea Bisognin, Elisabetta Trabetti, Attilio Boner, Lydia Pescollderungg, Pier Franco Pignatti, David Schlessinger, Giuseppe Pilia, Nazario Olla, Umberto Pelosi, Adriano Corrias, Roberto Perra, Pier Luigi Torrazza, Pietro Pirina, Francesco Ginesu, Silvano Marcias, Maria Grazia Schintu, Gennaro Sergio Del Giacco, Gabriella Sole, Serena Sanna, Matilde Fattori, Marcella Devoto, Silvia Doratiotto, Stefania Rassu, Simonetta Mereu, Enrico Giua, Natalina Graziella Cadeddu, Roberto Atzeni, Laura Loddo, Francesca Anedda, Silvia Naitza, Maria Antonietta Zuncheddu, Andrea Maschio, Daniele Altea, Sabrina Pilia | |||
| Lethal congenital contractural syndrome type 2 (LCCS2) is caused by a mutation in ERBB3 (Her3), a modulator of the phosphatidylinositol-3-kinase/akt pathway. | Biological sciences | Ohad S. Birk, Khalil Elbedour, Ginat Narkis, Rivka Ofir, Daniella Landau, Esther Manor | |||
| Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes [PIPKI.sub.[gamma]] of the phophatidylinsitol pathway. | Biological sciences | Ohad S. Birk, Khalil Elbedour, Ginat Narkis, Rivka Ofir, Daniella Landau, Esther Manor, Micha Volokita, Relly Hershkowitz | |||
| Leveraging the Hapmap correlation structure in association studies. | Biological sciences | Eleazar Eskin, Noah Zaitlen, Hyun Min Kang, Eran Halperin | |||
| Localization of a gene for nonsyndromic renal hypodysplasia to chromosome 1p32-33.(Report) | Biological sciences | Jonathan Barasch, Francesco Scolari, Simone Sanna-Cherchi, Gianluca Caridi, Patricia L. Weng, Monica Dagnino, Marco Seri, Anita Konka, Danio Somenzi, Alba Carrea, Claudia Izzi, Domenica Casu, Landino Allegri, Kai M. Schmidt-Ott, Roberto Ravazzolo, Gian Marco Ghiggeri | |||
| Long-term rescue of a lethal inherited disease by adeno-associated virus-mediated gene transfer in a mouse model of molybdenum-cofactor deficiency. | Biological sciences | S. Kugler, R. Hahnewald, M. Garrido, J. Reiss | |||
| Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans.(Report) | Biological sciences | J.S. Lee, J.D. Karkera, E. Roessler, Banerjee-Basu S., M.V. Ouspenskaia, J. Mez, E. Goldmuntz, P. Bowers, J. Towbin, J.W. Belmont, A.D. Baxevanis, A.F. Schier, M. Muenke | |||
| Maimon M. Cohen: January 24, 1935, to January 25, 2007.(director of Harvey Institute for Human Genetics at Greater Baltimore Medical Centre)(Obituary) | Biological sciences | David Rimoin, Kurt Hirschhorn, Michael Kaback | |||
| Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum. | Biological sciences | Kathleen J. Millen, David Fitzpatrick, Jill Clayton-Smith, William B. Dobyns, Elliott H. Sherr, Elena Boland, Victoria G. Woo, Shane McKee, Forbes D.C. Manson, Livija Medne, Elaine Zackai, Eric A. Swanson, Black C.M. | |||
| Marfan syndrome: from molecules to medicine. | Biological sciences | Harry C. Dietz | |||
| Matthew-Wood syndrome is caused by truncating mutations in the retinol binding protein receptor gene STRA6.(Report) | Biological sciences | Arnold Munnich, Stanislas Lyonnet, Ferechte Encha-Razavi, Michel Vekemans, Tania Attie-Bitach, Christelle Golzio, Jelena Martinovic-Bouriel, Sophie Thomas, Heather C. Etchevers, Soumaya Mougou-Zrelli, Sophie Delahaye, Bettina Grattagliano-Bessiere, Maryse Bonniere | |||
| Measuring European population stratification with microarray genotype data. | Biological sciences | Daniel G. Bradley, Mark D. Shriver, Marc Bauchet, Brian McEvoy, Laurel N. Pearson, Ellen E. Quillen, Tamara Sarkisian, Kristine Hovhannesyan, Ranjan Deka | |||
| Medical sequencing at the extremes of human body mass.(Report) | Biological sciences | Jonathan Cohen, Eytan Ruppin, Shamil Sunyaev, Joel Martin, Len A. Pennacchio, Christian Vaisse, Roded Sharan, Nadav Ahituv, Niharn Kavaslar, Wendy Schackwitz, Anna Ustaszewska, Sybil Hebert, Heather Doelle, Baran Ersoy, Gregory Kryukov, Steffen Schmidt, Nir Yosef, Robert Dent, Ruth McPherson | |||
| Mitochondrial haplogroup N9a confers resistance against type 2 diabetes in Asians.(Report) | Biological sciences | Noriyuki Fuku, Yoshiji Yamada, Yutaka Nishigaki, Young Min Cho, Hitoshi Matsuo, Tomonori Segawa, Sachiro Watanabe, Kimihiko Kato, Kiyoshi Yokoi, Yoshinori Nozawa, Hong Kyu Lee, Masashi Tanaka | |||
| Mitochondrial phosphate-carrier deficiency: A novel disorder of oxidative phosphorylation.(Report) | Biological sciences | Hanns Lochmuller, Sepp D. Kohlwein, Rita Horvath, Johannes A. Mayr, Olaf Merkel, Boris R. Gebhardt, Hansjosef Bohles, Ulrike Fotschl, Johannes Koch, Michaela Jaksch, Peter Freisinger | |||
| Mitochondrial variation of modern Tuscans supports the near eastern origin of Etruscans. | Biological sciences | Anna Olivieri, Antonio Torroni, Alberto Piazza, Richard Villems, Alessandro Achilli, Maria Pala, Ene Metspalu, Simona Fornarino, Vincenza Battaglia, Matteo Accetturo, Ildus Kutuev, Elsa Khusnutdinova, Erwan Pennarun, Nicoletta Cerutti, Cornelia Di Gaetano, Francesca Crobu, Domenico Palli, Giuseppe Matullo, A. Silvana Santachiara-Benerecetti, L. Luca Cavalli-Sforza, Ornella Semino, Bandelt Hans-Jurgen | |||
| Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1.(Clinical report) | Biological sciences | Ophelia Maertens, Frank Spelemen, Eric Legius, Ludwine. Mesiaen, Jo Vandesompele, Hilde Brems, Ine Heyns, Sandra Janssens, Sofie De Schepper | |||
| Most rare missense alleles are deleterious in humans: Implications for complex disease and association studies. | Biological sciences | Len A. Pennacchio, Gregory V. Kryukov, Shamil R. Sunyaev | |||
| Multifactor dimensionality reduction-phenomics: a novel method to capture genetic heterogeneity with use of phenotypic variables. | Biological sciences | H. Mei, M.L. Cuccaro, E.R. Martin | |||
| Multiple genes for essential-hypertension susceptibility on chromosome 1q. | Biological sciences | Richard S. Cooper, D.C. Rao, Alan B. Weder, Eric Boerwinkle, Sharon L.R. Kardia, Xin Liu, Yen-Pei Christy Chang, James Dae Ok Kim, Moma A. Ikeda, Marnie R. Layton, Steve C. Hunt, Amy Luke, Arvinda Chakravarti | |||
| Multipoint linkage-disequilibrium mapping with haplotype-block structure.(Report) | Biological sciences | Maoxia Zheng, Mary Sara McPeek | |||
| Mutation in CUL4B, which encodes a member of cullin-RING ubiquitin ligase complex, causes X-linked mental retardation.(really interesting new gene)(Report) | Biological sciences | Yongxin Zou, Qiji Liu, Bingxi Chen, Xiyu Zhang, Chenhong Guo, Haibin Zhou, Jiangxia Li, Guimin Gao, Yishou Guo, Chuanzhu Yan, Jianjun Wei, Changshun Shao, Yaoqin Gong | |||
| Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia. | Biological sciences | Andre Megarbane, Eliane Chouery, Lynn Adaimy, Valerie Delague, Hanen Belguith, Philippe de Mazancourt, Hala Megarbane, Salman Mroueh, Elsa Nicolas | |||
| Mutations in cardiac T-Box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathy. | Biological sciences | Scott A. Rankin, Aaron M. Zorn, Edwin P. Kirk, Margaret Sunde, Costa Mauro W., Wolstein Orit, M. Leticia Castro, Tanya L. Butler, Hyun Changbaig, Gunglan Guo, Robyn Otway, Jeol P. Mackay, Leigh B. Waddell, Andrew D. Cole, Christopher Hayward, Anne Keogh, Peter Macdonald, Lyn Griffiths, Diane Fatkin, Gary F. Sholler, Michael P. Fenely, David S. Winlaw, Richard P. Harvey | |||
| Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (optiz trigonocephaly) syndrome. | Biological sciences | Yuichi Oike, Yoshiaki Kubota, Norio Niikawa, Tadashi Kaname, Ko-ichiro Yoshiura, Kenji Naritomi, Kenji Kurosawa, Bohring Fukushima Axel, John M. Optiz, Toshiyuki Yamamoto, Hiroko Maehara, Ichiro Own, Fuminori Kanaya, Kumiko Yanagi, Yasutsugu Chinen, Yoshio Makita, Nobuhiko Okamoto | |||
| Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominant mental retardation.(Report) | Biological sciences | Ian D. Krantz, Matthew A. Deardorff, Maninder Kaur, Dinah Yaeger, Abhinav Rampuria, Sergey Korolev, Juan Pie, Concepcion Gil-Rodriguez, Maria Arnedo, Bart Loeys, Antonie D. Kline, Meredith Wilson, Kaj Lillquist, Victoria Siu, Feliciano J. Ramos, Antonio Musio, Laird S. Jackson, Dale Dorsett | |||
| Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor. | Biological sciences | David Jones, Adam Butler, Claire Stevens, David Richardson, Rachel Harrison, Patrick S. Tarpey, Jon Teague, Sarah Edkins, Sarah O'Meara, Tim Avis, Syd Barthorpe, Gemma Buck, Jennifer Cole, Ed Dicks, Kristian Gray, Kelly Halliday, Katy Hills, Andrew Menzies, Janet Perry, Keiran Raine, Rebecca Shepherd, Calli Tofts, Lucy F. Raymond, Andrew Jenkinson, Tatiana Mironenko | |||
| Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes. | Biological sciences | A. Munnich, C. Huber, V. Cormier-Daire, N. Dagoneau, S. Bellais, P. Blanchet, P. Sarda, L.I. Al-Gazali, M. Di Rocco, F. Djouadi, C. Le Goff | |||
| Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development.(Report) | Biological sciences | H.M. Kingston, M.A. Simpson, R. Hsu, L.S. Keir, J. Hao;, G. Sivapalan, L.M. Ernst, E.H. Zackai, I. Al-Gazali, G. Hulskamp, T.E. Prescott, A. Ion, M.A. Patton, V. Murday, A. George, A.H. Crosby | |||
| Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H. | Biological sciences | Malika Chaouch, Georg Haase, Andre Megarbane, Eliane Chouery, Valerie Delague, Arnaud Jacquier, Tarik Hamadouche, Yannick Poitelon, Cecile Baudot, Irene Boccaccio, Nora Kassouri, Rosette Jabbour, Djamel Grid, Nicolas Levy | |||
| Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome. | Biological sciences | Wei Yang, Ethylin Wang Jabs, Jin Zhao, Xiuli Zhao, Miao Sun, Alfonso J. Leyva, Hongwen Zhu, Xuan Zeng, Yang Ao, Qing Liu, Guoyang Liu, Wilson H.Y. Lo, Marlo L. Amzel, Xiangnian Shan, Xue Zhang | |||
| Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (CMTX5) . | Biological sciences | Jong-Won Kim, Michael E. Shy, Hee-Jin Kim, Kwang-Min Sohn, Karen M. Krajewski, Miok Hwang, June-Hee Park, Sue-Yon Jang, Hong-Hee Won, Byung-Ok Choi, Byoung-Joon Kim, Yeon-Lim Suh, Chang-Seok Ki, Soo-Youn Lee | |||
| Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation.(stimulated by retinoic acid gene )(Report) | Biological sciences | Christian Becker, David Chitayat, Geert Mortier, Heinrich Sticht, Raoul C.M. Hennekam, Peter Meinecke, Gerhard Hammersen, Anita Rauch, Francesca Pasutto, Gabriele Gillessen-Kaesbach, David R. FitzPatrick, Gudrun Nurnberg, Frank Brasch, Heidemarie Schirmer-Zimmermann, John L. Tolmie, Gunnar Houge, Lorena Fernandez-Martinez, Sarah Keating, Axel Von Der Wense, Anne Slavotinek, Pierre Bitoun, Peter Nurnberg, Andre Reis | |||
| Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction. | Biological sciences | Nigel P. Carter, Arnold Munnich, Stanislas Lyonnet, Jeanne Amiel, Richard Redon, Nathalie Boddaert, Marlene Rio, Valerie Malan, Perrine Plouin, Laurence Colleaux | |||
| Mutations in the BRWD3 gene cause X- linked mental retardation associated with macrocephaly. | Biological sciences | David Jones, Adam Butler, Richard Wooster, Michael Field, Claire Stevens, Michael R. Stratton, P. Andrew Futreal, John Mulley, David Richardson, Gillian Turner, F. Lucy Raymond, Patrick S. Tarpey, Jon Teague, Sarah Edkins, Sarah O'Meara, Syd Barthorpe, Gemma Buck, Jennifer Cole, Ed Dicks, Kristian Gray, Kelly Halliday, Uma Mallya, Jenny Moon, Katy Hills, Andrew Menzies, Janet Perry, Sara Widaa, Michael Partington, Jozef Gecz, Keiran Raine, Alexandra Small, Calli Tofts, Jennifer Varian, Sofie West, Andrew Jenkinson, Tatiana Mironenko, Raffaella Smith, Marie Shaw, Rebacca Shepherd, Ying Luo, Kathryn L. Friend, Mark Corbett, Helen Hughes, Charles Schwartz, Roger Stevenson, Martin Bobrow | |||
| Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration.(Report) | Biological sciences | Robert A. Harris, Peter T. Clayton, Ronald J.A. Wanders, Lodewijk Ijlst, Ference J. Loupatty, Jos P.N. Ruiter, Rob Ofman, Garry K. Brown, David R. Thorburn, Marinus Duran, Carlos DeSousa, Steve Krywawych, Simon J.R. Heales | |||
| Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia.(Report) | Biological sciences | David Schlesinger, Guy A. Rouleau, Pierre Drapeau, Mayana Zatz, Paul N. Valdmanis, Inge A. Meijer, Annie Reynolds, Adrienne Lei, Patrick Macleod, Evan Reid, Patrick A. Dion | |||
| Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause x-linked mental retardation associated with a marfanoid habitus.(Clinical report) | Biological sciences | David Jones, Adam Butler, Martin Bobrow, Richard Wooster, Charles E. Schwartz, Claire Stevens, Trevor Cole, Michael R. Stratton, P. Andrew Futreal, Gillian Turner, F. Lucy Raymond, Patrick S. Tarpey, Jon Teague, Sarah Edkins, Sarah O'Meara, Syd Barthorpe, Gemma Buck, Jennifer Cole, Ying Luo, Douglas F. Easton, Ed Dicks, Kristian Gray, Kelly Halliday, Uma Mallya, Katy Hills, Jonathon Hinton, Andrew Menzies, Janet Perry, Sara Widaa, Jozef Gecz, Keiran Raine, Rebecca Shepherd, Alexandra Small, Calli Tofts, Jennifer Varian, Marie Shaw, Jackie Boyle, Bronwyn Kerr, Jenny Moon, Oliver Quarrell | |||
| Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance. | Biological sciences | Bruno Dallapiccola, Stylianos E. Antonarakis, Stephanie Sherman, Robert Lyle, Samuel Deutsch, Paola Prandini, Maryline Gagnebin, Celine Delucinge Vivier, Mauro Delorenzi, Corrine Gehrig, Patrick Descombes, Franca Danga Bricarelli, Chiara Baldo Baldo, Antonio Novelli | |||
| Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2.(Report) | Biological sciences | Nigel G. Laing, Philip R. Dormitzer, Alan H. Beggs, Pankaj B. Agrawal, Rebecca S. Greenleaf, Kinga K. Tomczak, Vilma-Lotta Lehtokari, Carina Wallgren-Pettersson, William Wallefeld, Basil T. Darras, Sutherland K. Maciver | |||
| Neurologic, gastric, and opthalmologic pathologies in a murine model of mucolipidosis type IV.(Report) | Biological sciences | James Pickel, Susan A. Slaugenhaupt, Nanda Nanthakumar, Bhuvarahamurthy Venugopal, Marsha F. Browning, Cyntia Curcio-Morelli, Andrea Varro, Norman Michaud, Steven U. Walkley | |||
| New perspective for the elucidation of genetic disorder. | Biological sciences | Hans-Hilger Ropers | |||
| NOBOX homeobox mutation causes premature ovarian failure. | Biological sciences | Joe Leigh Simpson, Yingying Qin, Youngsok Choi, Han Zhao, Aleksandar Rajkovic, Zi-Jiang Chen | |||
| No gene is an island: The flip-flop phenomenon.(Report) | Biological sciences | Margaret A. Pericak-Vance, Jeffery M. Vance, Eden R. Martin, Ping-I Lin | |||
| Normal levels of wild-type mitochondrial DNA maintain cytochrome c oxidase activity for two pathogenic mitochondrial DNA mutations but not for m.3243A->G. | Biological sciences | Patrick F. Chinnery, Durham. Steve E., David C. Samuels, Lynsey M. Cree | |||
| Nova2 interacts with a cis-acting polymorphism to influence the proportions of drug-responsive splice variants of SCN1A. | Biological sciences | Nicholas W. Wood, David B. Goldstein, Sanjay M. Sisodiya, Erin L. Heinzen, Woohyun Yoon, Sarah K. Tate, Arjune Sen | |||
| Novel association in chromosome 4q27 region with rheumatoid arthritis and confirmation of type 1 diabetes point to a general risk locus for autoimmune diseases. | Biological sciences | Bart O. Roep, Cisca Wijmenga, Lude Franke, Alexandra Zhernakova, Behrooz Z. Alizadeh, Marianna Bevova, Miek A. Van leeuwen, Marieke Coenen J.H., Barbara Franke, Marcel D. Posthumus, David A. van Heel, Gerrit van der Steege , Timothy Radstake R.d.J., Pilar Barrera, Bobby P.C. Koeleman | |||
| Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: a potential therapy for inherited neuropathy . | Biological sciences | Theodore G. Wensel, G. Jackson Snipes, James R. Lupski, Mehrdad Khajavi, Jiong Yan, Feng He, Kensuke Shiga, Wojciech Wiszniewski, Chad A. Shaw | |||
| Orofacial cleft risk is increased with maternal smoking and specific detoxification-gene variants.(Report) | Biological sciences | Michael Lovett, Kaare Christensen, Jeffrey C. Murray, Clarice R. Weinberg, Min Shi, Richard W. Morris, Lise Bathum, Paul Romitti, Anthony Lozada | |||
| Overcoming the winner's curse: Estimating penetrance parameters from case-control data.(algorithm to correct ascertainment bias in genetic research) | Biological sciences | Jonathan K. Pritchard, Sebastian Zollner | |||
| Pathway-based approaches for analysis of genomewide association studies. | Biological sciences | Mingyao Li, Kai Wang, Maja Bucan | |||
| Peakwide mapping on Chromosome 3q13 identifies the kalirin gene as a novel candidate gene for coronary artery disease. | Biological sciences | Christopher B. Granger, Margaret A. Pericak-Vance, Jonathan L. Haines, William E. Kraus, Elizabeth R. Hauser, Sarah Nelson, Jeffrey M. Vance, Liyong Wang, Marco Harris II, A. Brent Hale, Svati H. Shah, Carol Haynes, David Crosslin, Christopher J.H. Hones, David Crossman, David Seo, Simon G. Gregory, Pascal J. Goldschmidt-Clermont | |||
| Penetrance of craniofacial anomalies in mouse models of Smith-Magenis syndrome is modified by genomic sequence surrounding Rai1: Not all null alleles are alike.(Report) | Biological sciences | James R. Lupski, Jiong Yan, Weimin Bi | |||
| Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4. | Biological sciences | Ueli Suter, Vincent Timmerman, Klaus Zerres, Claudia Stendel, Andreas Roos, Tine Deconinck, Jorge Pereira, Francois Castagner, Axel Niemann, Jandernd Kirschner, Rudolf Korinthenberg, Uwe-Peter Ketelsen, Esra Battaloglu, Yesim Parman, Garth Nicholson, Robert Ouvrier, Jurgen Seeger, Peter De Jonghe, Joachim Weis, Alexander Kruttgen, Sabine Rudnik-Schoneborn, Carsten Bergmann, Joao B. Relvas, Jan Senderek | |||
| Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects.(Clinical report) | Biological sciences | Andrew T. Hattersley, Frances M. Ashcroft, Dennis J. Carson, Peter Proks, Julian P.H. Shield, Sarah E. Flanagan, Sian Ellard, Andrew Parrish, Emma L. Edghill, Christophe A. Girard, Ann-Marie Patch, Lorna W. Harries, Deborah J.G. Mackey, Kenju Shimomura, Holger Haberland | |||
| Perspectives in human genetics: Mendelian Inheritance in Man and its online version, OMIM.(Online Mendelian Inheritance in Man) | Biological sciences | Victor A. McKusick | |||
| Phosphoserine aminotransferase deficiency: A novel disorder of the serine biosynthesis pathway.(Clinical report) | Biological sciences | Claire E. Hart, Valerie Race, Younes Achouri, Elsa Wiame, Mark Sharrard, Simon E. Olpin, Jennifer Watkinson, James R. Bonham, Jaak Jaeken, Gert Matthijs, Emile Van Schaftingen | |||
| Phylogeographic analysis of mitochondrial DNA in northern Asian populations.(Report) | Biological sciences | Richard Villems, Hong Kyu Lee, Miroslava Derenko, Boris Malyarchuk, Tomasz Grzybowski, Galina Denisova, Choduraa Dorzhu, Faina Luzina, Tomas Vanecek, Ilia Zakharov, Irina Dambueva, Maria Perkova | |||
| Physical exercise-induced hypoglycemia caused by failed silencing of monocarboxylate transporter 1 in pancreatic [beta] cells. | Biological sciences | Ilkka Sipila, Juha Kere, Timo Otonkoski, Hong Jiao, Nina Kaminen-Ahola, Isabel Tapia-Paez, Mohammed S. Ullah, Laura E. Parton, Frans Schuit, Roel Quintens, Ertan Mayatepek, Thomas Meissner, Andrew P. Halestrap, Guy A. Rutter | |||
| Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. | Biological sciences | Marie-Claire Gubler, Yves Dumez, Annick Toutain, Arnold Munnich, Stanislas Lyonnet, Emmanuelle Genin, Colin A. Johnson, Lekbir Baala, Sophie Saunier, Sophie Audollent, Catherine Ozilou, Remi Salomon, Ferechte Encha-Razavi, Michel Vekemans, Tania Attie-Bitach, Jelena Martinovic, Marie-Claude Babron, Sivanthiny Sivanandamoorthy, Marie Gonzales, Eleanor Rattenberry, Chantal Esculpavit, Claude Moraine, Philippe Parent, Pascale Marcorelles, Marie-Christine Dauge, Joelle Roume, Martine Le Merrer, Vardiella Meiner, Karen Meir, Francoise Menez, Anne-Marie Beaufrere, Christine Francannet, Julia Tantau, Martine Sinico, Fiona MacDonald | |||
| PLINK: a tool set for whole-genome association and population-based linkage analyses. | Biological sciences | David Bender, Mark J. Daly, Paul I.W. de Bakker, Pamela Sklar, Shaun Purcell, Benjamin Neale, Kathe Todd-Brown, Lori Thomas, Manuel A.R. Ferreira, Julian Maller, Pak C. Sham | |||
| Polymorphic variation in human meiotic recombination.(Report) | Biological sciences | Michael Morley, Vivian G. Cheung, Joshua T. Burdick, Deborah Hirschmann | |||
| Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases.(Report) | Biological sciences | Luis Serrano, Angel L. Pey, Francois Stricher, Aurora Martinez | |||
| Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA. | Biological sciences | Rincon A., Aguado C., L.R. Desviat, R. Sanchez-Alcudia, Ugarte M., Perez B. | |||
| RAB23 mutations in Carpenter syndrome imply an unexpected role for Hedgehog signaling in cranial-suture development and obesity.(Report) | Biological sciences | Andrew O.M. Wilkie, Irene M.J. Mathijssen, Jenny E.V. Morton, Elizabeth Sweeney, Steven A. Wall, Peter Nurnberg, Dagan Jenkins, Dominik Seelow, Fernanda S. Jehee, Jeffrey L. Marsh, Maria Rita Passos-Bueno, Chad A. Perlyn, Luis G. Alonso, Daniela F. Bueno, Dian Donnai, Dragana Josifiova, Karen Helene Orstavik | |||
| RAD51 135G C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies. | Biological sciences | Judy E. Garber, Henry T. Lynch, Jeffery P. Struewing, Steven A. Narod, Susan L. Neuhausen, Dominique Stoppa-Lyonnet, Katherine L. Nathanson, Antonis C. Antoniou, Olga M. Sinilnikova, Jacques Simard, Melanie Leone, Martine Dumont, Laure Barjhoux, David J. Hughes, Isabelle Coupier, Muriel Belotti, Christine Lasset, Valerie Bonadona, Yves-Jean Bignon, Timothy R. Rebbeck, Theresa Wagner, Susan M. Domchek, Jeffrey Weitzel, Gail Tomlinson, Andrew Godwin | |||
| Rapid and accurate haplotype phasing and missing-data inference for whole-genome association studies by use of localized haplotype clustering. | Biological sciences | Sharon R. Browning, Brian L. Browning | |||
| Recent genetic selection in the ancestral admixture of Puerto Ricans. | Biological sciences | Hua Tang, Rui Mei, Neil J. Risch, Shweta Choudhry, Martin Morgan, William Rodriguez-Cintron, Esteban Gonzalez Burchard | |||
| Recurrent 10q22-q23 deletions: A genomic disorder on 10q associated with cognitive and behavioral abnormalities. | Biological sciences | Ake Borg, David Valle, George H. Thomas, Scott B. Selleck, Jorune Balciuniene, Ningping Feng, Kelly Iyadurai, Betsy Hirsch, Lawrence Charnas, Brent R. Bill, Mathew C. Easterday, Johan Staaf, LeAnn Oseth, Desiree Czapansky-Beilman, Dimitri Avramopoulos, Lisa A. Schimmenti | |||
| Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa.(Clinical report) | Biological sciences | Frauke Coppieters, Bart P. Leroy, Diane Beysen, Jan Hellemans, Karolien De Bosscher, Guy Haegeman, Kirsten Robberecht, Wim Wuyts, Paul J. Coucke, Elfride De Baere | |||
| Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy.(Report) | Biological sciences | Evan E. Eichler, Niels Tommerup, Christine Bellanne-Chantelot, Dan Pinkel, Mario Ventura, Reinhard Ullmann, Heather C. Mefford, Severine Clauin, Andrew J. Sharp, Rikke S. Moller, Raj Kapur, Gregory M. Cooper, H. Hilger Ropers | |||
| Red-green color vision impairment in Duchenne muscular dystrophy.(Report) | Biological sciences | Mayana Zatz, Marcelo Fernandes Costa, Andre Gustavo Fernandes Oliveira, Claudia Feitosa-Santana, Dora Fix Ventura | |||
| Reduced neuron-specific expression of the TAF1 gene is associated with X-linked dystonia-parkinsonism.(TATA-binding protein-associated factor 1 gene)(Report) | Biological sciences | Satoshi Goto, Satoshi Makino, Gen Tamiya, Ryuji Kaji, Satoshi Ando, Maiko Tomizawa, Katsuhito Yasuno, Shinnichi Matsumoto, Ma Daisy Tabuena, Elma Maranon, Dantes Marita, Lillian V. Lee, Kazumasa Ogasawara, Ikuo Tooyama, Hiroyasu Akatsu, Masataka Nishimura | |||
| RNA interference-mediated suppression and replacement of human rhodopsin in vivo. | Biological sciences | Marian M. Humphries, Alberto Auricchio, Mary O'Reilly, Naomi Chadderton, Arpad Palfi, Sophia Millington-Ward, Marius Ader, Therese Cronin, Therese Thohy, Markus Hildinger, Amanda Tivnan, Niamh McNally, Anna-Sophia Kiang, Pete Humphries, Paul F. Kenna, G.Jane Farrar | |||
| Robert J. Gorlin, 1923-2006: Evolution of his phenotype.(geneticist)(Obituary) | Biological sciences | M. Michael Cohen Jr. | |||
| Seemingly neutral polymorphic variants may confer immunity to splicing-inactivating mutations: A synonymous SNP in exon 5 of MCAD protects from deleterious mutations in a flanking exonic splicing enhancer.(single nucleotide polymorphisms)(medium-chain acyl-CoA dehydrogenase)(Report) | Biological sciences | Adrian R. Krainer, Jorgen Kjems, Karsten Bork Nielsen, Suzette Sorensen, Luca Cartegni, Thomas Juhl Corydon, Thomas Koed Doktor, Lisbeth Dahl Schroeder, Line Sinnathamby Reinert, Orly Elpeleg, Niels Gregersen, Brage Storstein Andresen | |||
| Sequence-based prioritization of nonsynoymous single-nucleotide polymorphisms for the study of disease mutations. | Biological sciences | Rui Jiang, Linqi Zhoui, Hua Yang, C.-C. Jay Kuo, Fengzhu Sun, Ting Chen | |||
| Significant correction of disease after postnatal administration of recombinant ectodysplasin A in canine X-linked ectodermal dysplasia.(Report) | Biological sciences | Stephane Demotz, Olivier Gaide, Pascal Schneider, John R. Lewis, Aubry Tardivel, Margret L. Casal, Elizabeth A. Mauldin, Karine Ingold, Manuel Favre, Fabrice Paradies | |||
| Simultaneouly correcting for population stratification and for genotyping error in case-control association studies. | Biological sciences | K.F.Cheng, W.J.Lin | |||
| Simultaneous discovery and testing of deletions for disease association in SNP genotyping studies. | Biological sciences | David J. Cutler, Jared R. Kohler | |||
| So many correlated tests, so little time! Rapid adjustment of 'P' values for multiple correlated tests. | Biological sciences | Michael Boehnke, Karen N. Conneely | |||
| Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy.(Report) | Biological sciences | Richard J.L.F. Lemmers, Marielle Wohlemuth, Kristiaan J. van der Gaag, Patrick J. van der Vliet, Corrie M.M. van Teijlingen, Peter de Knijff, George W. Padberg, Rune R. Frants, Silvere M. van der Maarel | |||
| TBX22 missense mutations found in patients with X-linked cleft palate affect DNA binding, sumoylation and transcriptional repression. | Biological sciences | Markus Bussen, Andreas Kispert, Jan J. Brosens, Artmisia M. Andreou, Philip Stanier, Kit Doudney, Gudrun E. Moore, Erwin Pauws, Marius C. Jones, Mavendra K. Singh | |||
| The evolution of satellite III DNA subfamilies among primates.(Report) | Biological sciences | Malgorzata Jarmuz, Caron D. Glotzbach, Kristen A. Bailey, Ruma Bandyopadhyay, Lisa G. Shaffer | |||
| The first genomewide interaction and locus-heterogeneity linkage scan in bipolar affective disorder: strong evidence of epistatic effect between loci on chromosome 2q and 6q.(Report) | Biological sciences | Maria Jose Gonzalez, Sven Cichon, Markus M. Nothen, Rami Abou Jamra, Robert Feurst, Radka Kaneva, Guillermo Orozco Diaz, Fabio Rivas, Fermin Mayoral, Eudoxia Gay, Sebastian Sans, Susana Gil, Francisco Cabaleiro, Francisco del Rio, Fermin Perez, Jesus Haro, Georg Auberger, Vihra Milanova, Christian Kostov, Vesselin Chorbov, Vessela Stoyanova, Amelia Nikolova-Hill, George Onchev, Ivo Kremensky, Assen Jablensky, Thomas G. Schulze, Peter Propping, Marcella Rietschel, Thomas F. Wienker, Johannes Schumacher | |||
| The genetics of congenital amusia (tone deafness): a family-aggregation study. | Biological sciences | Isabelle Peretz, Stephanie Cummings, Marie-Pierre Dube | |||
| The Himalayas as a directional barrier to gene flow. | Biological sciences | Lev A. Zhivotovsky, Tenzin Gayden, Alicia M. Cadenas, Maria Regueiro, Nanda B. Singh, Peter A. Underhill, Luigi L. Cavalli-Sforza, Rene J. Herrera | |||
| The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome.(Report) | Biological sciences | Marie-Claire Gubler, Arnold Munnich, Stanislas Lyonnet, Colin A. Johnson, Lekbir Baala, Stephane Romano, Rana Khaddour, Sophie Saunier, Ursula M. Smith, Sophie Audollent, Catherine Ozilou, Laurence Faivre, Nicole Laurent, Bernard Foliguet, Remi Salomon, Ferechte Encha-Razavi, Nathalie Boddaert, Pascale De Lonlay, Michel Vekemans, Corinne Antignac, Tania Attie-Bitach | |||
| The methylenetetrahydrofolate reductase 677C-->T polymorphism as a modulator of a B vitamin network with major effects on homocysteine metabolism. | Biological sciences | Per Magne Ueland, Steinar Hustad, Oivind Midttun, Jorn Schneede, Stein Emil Vollset, Tom Grotmol | |||
| The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter. | Biological sciences | Berge A. Minassian, Andrew D. Paterson, Eija Siintola, Meral Topcu, Nina Aula, Hannes Lohi, Xiao-Qing Liu, Callum Wilson, Ulla Lahtinen, Anna-Kaisa Anttonen, Anna-Elina Lehesjoki | |||
| The nuclear factor [kappa]B-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset. | Biological sciences | Barbara Lambert, Arnold Munnich, Isabelle Maystadt, Rene Rezsohazy, Martine Barkats, Sandra Duque, Sophie Remacle, Pascal Vannuffel, Mustapha Najimi, Etienne Sokal, Louis Viollet, Christine Verellen-Dumoulin | |||
| The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior. | Biological sciences | Charles E. Schwartz, Ronald J.A. Wanders, Birgitta Winnepenninckx, Claus Lenski, Frank Kooy, Edwin Reyniers, Daniela Loessner, Heide Hellebrand, Stefanie Engert, Alfons Meindl, Juliane Ramser | |||
| The role of neuronal complexes in human X-linked brain diseases. | Biological sciences | Seth G.N. Grant, Frederic Laumonnier, Peter C. Cuthbert | |||
| The strength of selection on ultraconserved elements in the human genome. | Biological sciences | Jen C. Wang, Christina T.L. Chen, Barak A. Cohen | |||
| The structure of common genetic variation in United States populations. | Biological sciences | Stephen L. Guthery, Benjamin A. Salisbury, Manish S. Pungliya, Claiborne Stephens, Michael Bamshad | |||
| The variant inv (2) (p11.2q13) is a genuinely recurrent rearrangement but displays some breakpoint heterogeneity. | Biological sciences | N. Simon Thomas, Kathryn Watts, Reiner Siebert, Zeynep Tumer, Ina Fickelscher, Thomas Liehr, Victoria Bryant, John C.K. Barber, Simone Heidemann, Jens Michael Hertz | |||
| Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4).(Report) | Biological sciences | Sven Enerback, Richard J.H. Smith, Tao Yang, Hilmar Vidarsson, Sandra Rodrigo-Blomqvist, Sally S. Rosengren | |||
| Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome.(Report) | Biological sciences | Richard J.H. Smith, Dan Zou, Derek Silvius, Christine Petit, Bethan E. Hoskins, Carl H. Cramer II, Richard M. Raymond Jr., Dana J. Orten, William J. Kimberling, Dominique Weil, Edgar A. Otto, Pin-Xian Xu, Friedhelm Hildebrandt | |||
| Type 2 diabetes TCF7L2 risk genotypes alter birth weight: A study of 24, 053 individuals.(Report) | Biological sciences | George Davey Smith, Andrew T. Hattersley, Amanda Bennett, Timothy M. Frayling, Chris Power, Yoav Ben-Shlomo, Marcus E. Pembrey, Rachel M. Freathy, Micahel N. Weedon, Elina Hypponen, David P. Strachan, Marjo-Riitta Jarvelin, Mark I. McCarthy, Caroline L. Relton, Beatrice Knight, Beverley Shields, Kirstie S. Parnell, Christopher J. Groves, Susan M. Ring | |||
| Type 2 diabetes whole-genome association study in four populations: the DiaGen consortium.(Disease/Disorder overview) | Biological sciences | Philippe Froguel, Antony Payton, Ariel Darvasi, Jukka T. Salonen, David Meyre, Juha-Matti Aalto, Mia Pirskanen, Jari Kaikkonen, Boryana Todorova, Pekka Uimari, Jelena Hypponen, Veli-Pekka Korhonen, Janne Asikainen, Christopher Devine, Tomi-Pekka Tuomainen, Jan Leudemann, Matthias Nauck, Wolfgang Kerner, Richard H. Stephans, John P. New, William E. Ollier, Martin Gibson, Michael A. Horan, Neil Pendleton, Walt Mahoney, Jerome Delplanque, Oren Luzatto, Benjamim Yakir | |||
| Type 2 NF1 deletions are highly unusual by virtue of the absence of nonallelic homologous recombination hotspots and an apparent preference for female mitotic recombination. | Biological sciences | Eduard Serra, Nadia A. Chuzhanova, Hildegard Kehrer-Sawatzki, Katharina Steinmann, David N. Cooper, Lan Kluwe, Cornelia Senger, Conxi Lazaro, Montserrat Gilaberte, Katharina Wimmer, Viktor-Felix Mautner | |||
| Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia. | Biological sciences | Ilkka Kaitila, Geert Mortier, Anita Rauch, Andre Reis, Christian T. Thiel | |||
| X-APL: An improved family-based test of association in the presence of linkage for the X chromosome.(Report) | Biological sciences | Li Zhang, Eden R. Martin, Richard W. Morris, Ren-Hua Chung, Yi-Ju Li | |||
This website is not affiliated with document authors or copyright owners. This page is provided for informational purposes only. Unintentional errors are possible.