Results : 51-75/119
Authors:
Stephens, Matthew
Scheet, Paul
Journal: American journal of human genetics
Citation: Stephens, Matthew et Scheet, Paul, Accounting for Decay of Linkage Disequilibrium in Haplotype Inference and Missing-Data Imputation, American journal of human genetics , 76(3), 2005, pp. 449-462
Authors:
Internationall Multiple Sclerosis Genetics Consortium
Journal: American journal of human genetics
Citation: Internationall Multiple Sclerosis Genetics Consortium, A High-Density Screen for Linkage in Multiple Sclerosis, American journal of human genetics , 77(3), 2005, pp. 454-467
Authors:
Reiner, Alexander P.
Ziv, Elad
Lind, Denise L.
Nievergelt, Caroline M.
Schork, Nicholas J.
Cummings, Steven R.
Phong, Angie
Gonzàlez Burchard, Esteban
Harris, Tamara B.
Psaty, Bruce M.
Kwok, Pui-Yan
Journal: American journal of human genetics
Citation: P. Reiner, Alexander et al., Population Structure, Admixture, and Aging-Related Phenotypes in African American Adults: The Cardiovascular Health Study, American journal of human genetics , 76(3), 2005, pp. 463-477
Authors:
Chiba-Falek, Ornit
Kowalak, Jeffrey A.
Smulson, Mark E.
Nussbaum, Robert L.
Journal: American journal of human genetics
Citation: Chiba-falek, Ornit et al., Regulation of .-Synuclein Expression by Poly (ADP Ribose) Polymerase-1 (PARP-1) Binding to the NACP-Rep1 Polymorphic Site Upstream of the SNCA Gene, American journal of human genetics , 76(3), 2005, pp. 478-492
Authors:
Karmous-Benailly, Houda
Martinovic, Jelena
Gubler, Marie-Claire
Sirot, Yoann
Clech, Laure
Ozilou, Catherine
Augé, Joëlle
Brahimi, Nora
Etchevers, Heather
Detrait, Eric
Esculpavit, Chantal
Audollent, Sophie
Goudefroye, Géraldine
Gonzales, Marie
Tantau, Julia
Loget, Philippe
Joubert, Madeleine
Gaillard, Dominique
Jeanne-Pasquier, Corinne
Delezoide, Anne-Lise
Peter, Marie-Odile
Plessis, Ghislaine
Simon-Bouy, Brigitte
Dollfus, Hélène
Le Merrer, Martine
Munnich, Arnold
Encha-Razavi, Férechté
Vekemans, Michel
Attié-Bitach, Tania
Journal: American journal of human genetics
Citation: Karmous-benailly, Houda et al., Antenatal Presentation of Bardet-Biedl Syndrome May Mimic Meckel Syndrome, American journal of human genetics , 76(3), 2005, pp. 493-504
Authors:
Benito-Sanz, Sara
Thomas, Simon N.
Huber, Céline
Gorbenko del Blanco, Darya
Aza-Carmona, Miriam
Crolla, John A.
Maloney, Vivienne
Argente, Jesùs
Campos-Barros, Ángel
Cormier-Daire, Valérie
Heath, Karen E.
Journal: American journal of human genetics
Citation: Benito-sanz, Sara et al., A Novel Class of Pseudoautosomal Region 1 Deletions Downstream of SHOX Is Associated with Léri-Weill Dyschondrosteosis, American journal of human genetics , 77(4), 2005, pp. 533-544
Authors:
Lin, Ping-I
McInnis, Melvin G.
Potash, James B.
Willour, Virginia L.
MacKinnon, Dean F.
Miao, Kuangyi
DePaulo, Raymond J.
Zandi, Peter P.
Journal: American journal of human genetics
Citation: Lin, Ping-i et al., Léri-Weill dyschondrosteosis (LWD) is a pseudoautosomal dominant disorder characterized by disproportionate short stature and a characteristic curving of the radius, known as the .Madelung deformity..SHOX mutations resulting in SHOX haploinsufficiency have been found in LWD and in a variable proportion of patients with idiopathic short stature (ISS), whereas homozygous loss of SHOX results in the more severe Langer mesomelic dysplasia (LMD). Defects in SHOX have been identified in .60% of LWD ca, American journal of human genetics , 77(4), 2005, pp. 545-555
Authors:
Vander Molen, J.
Frisse, L.M.
Fullerton, S.M.
Qian, Y.
del Bosque-Plata, L.
Hudson, R.R.
Di Rienzo, A.
Journal: American journal of human genetics
Citation: J. Vander Molen, et al., Population Genetics of CAPN10 and GPR35: Implications for the Evolution of Type 2 Diabetes Variants, American journal of human genetics , 76(4), 2005, pp. 548-560
Authors:
Brown, Petrice W.
Judis, LuAnn
Chan, Ricky E.
Schwartz, Stuart
Seftel, Allen
Thomas, Anthony
Hassold, Terry J.
Journal: American journal of human genetics
Citation: W. Brown, Petrice et al., Meiotic Synapsis Proceeds from a Limited Number of Subtelomeric Sites in the Human Male, American journal of human genetics , 77(4), 2005, pp. 556-566
Authors:
Criswell, Lindsey A.
Pfeiffer, Kristen A.
Lum, Raymond F.
Gonzales, Bonnie
Novitzke, Jil
Kern, Marlena
Moser, Kathy L.
Begovich, Ann B.
Carlton, Victoria E.H.
Li, Wentian
Lee, Annette T.
Ortmann, Ward
Behrens, Timothy W.
Gregersen, Peter K.
Journal: American journal of human genetics
Citation: A. Criswell, Lindsey et al., Analysis of Families in the Multiple Autoimmune Disease Genetics Consortium (MADGC) Collection: the PTPN22 620W Allele Associates with Multiple Autoimmune Phenotypes, American journal of human genetics , 76(4), 2005, pp. 561-571
Authors:
Carlton, Victoria E.H.
Hu, Xiaolan
Chokkalingam, Anand P.
Schrodi, Steven J.
Brandon, Rhonda
Alexander, Heather C.
Chang, Monica
Catanese, Joseph J.
Leong, Diane U.
Ardlie, Kristin G.
Kastner, Daniel L.
Seldin, Michael F.
Criswell, Lindsey A.
Gregersen, Peter K.
Beasley, Ellen
Thomson, Glenys
Amos, Christopher I.
Begovich, Ann B.
Journal: American journal of human genetics
Citation: Carlton, Victoria E.h et al., PTPN22 Genetic Variation: Evidence for Multiple Variants Associated with Rheumatoid Arthritis, American journal of human genetics , 77(4), 2005, pp. 567-581
Authors:
Roelfsema, Jeroen H.
White, Stefan J.
Ariyürek, Yavuz
Bartholdi, Deborah
Niedrist, Dunja
Papadia, Francesco
Bacino, Carlos A.
den Dunnen, Johan T.
van Ommen, Gert-Jan B.
Breuning, Martijn H.
Hennekam, Raoul C:
Peters, Dorien J.M.
Journal: American journal of human genetics
Citation: H. Roelfsema, Jeroen et al., Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease, American journal of human genetics , 76(4), 2005, pp. 572-580
Authors:
Cope, Natalie
Harold, Denise
Hill, Gary
Moskvina, Valentina
Stevenson, Jim
Holmans, Peter
Owen, Michael J.
O'Donovan, Michael C.
Williams, Julie
Journal: American journal of human genetics
Citation: Cope, Natalie et al., Strong Evidence That KIAA0319 on Chromosome 6p Is a Susceptibility Gene for Developmental Dyslexia, American journal of human genetics , 76(4), 2005, pp. 581-591
Authors:
McQueen, Matthew B.
Devlin, B.
Faraone, Stephen V.
Nimgaonkar, Vshwajit L.
Sklar, Pamela
Smoller, Jordan W.
Abou Jamra, Rami
Albus, Margot
Bacanu, Silviu-Alin
Baron, Miron
Barrett, Thomas B.
Berrettini, Wade
Blacker, Deborah
Byerley, William
Cichon, Sven
Coryell, William
Craddock, Nick
Daly, Mark J.
DePaulo, Raymond J.
Edenberg, Howard J.
Foroud, Tatiana
Gill, Michael
Gilliam, Conrad T.
Hamshere, Marian
Jones, Ian
Jones, Lisa
Juo, Suh-Hang
Kelsoe, John R.
Lambert, David
Lange, Christoph
Lerer, Bernard
Liu, Jianjun
Maier, Wolfgang
MacKinnon, James D.
McInnis, Melvin G.
McMahon, Francis J.
Murphy, Dennis L.
Nöthen, Markus M.
Nurberger, John I. Jr.
Pato, Carlos N.
Pato, Michele T.
Potash, James B.
Propping, Peter
Pulver, Ann E.
Rice, John P.
RIetschel, Marcella
Scheftner, William
Schumacher, Johannes
Segurado, Ricardo
Van Steen, Kristel
Xie, Weiting
Zandi, Peter P.
Laird, Nan M.
Journal: American journal of human genetics
Citation: B. Mcqueen, Matthew et al., Combined Analysis from Eleven Linkage Studies of Bipolar Disorder Provides Strong Evidence of Susceptibility Loci on Chromosomes 6q and 8q, American journal of human genetics , 77(4), 2005, pp. 582-595
Authors:
Epstein, Michael P.
Veal, Colin D.
Trembath, Richard C.
Barker, Jonathan N.W.N.
Li, Chung
Satten, Glen A.
Journal: American journal of human genetics
Citation: P. Epstein, Michael et al., Genetic Association Analysis Using Data from Triads and Unrelated Subjects, American journal of human genetics , 76(4), 2005, pp. 592-608
Authors:
Shiffman, Dov
Ellis, Stephen G.
Rowland, Charles M.
Malloy, Mary J.
Luke, May M.
Iakoubova, Olga A.
Pullinger, Clive R.
Cassano, June
Aouizerat, Bradley E.
Fenwick, Raymond G.
Reitz, RIchard E.
Catanese, Joseph J.
Leong, Diane U.
Zellner, Christian
Sninsky, John J.
Topol, Eric J.
Devlin, James J.
Kane, John P.
Journal: American journal of human genetics
Citation: Shiffman, Dov et al., Identification of Four Gene Variants Associated with Myocardial Infarction, American journal of human genetics , 77(4), 2005, pp. 596-605
Authors:
de Vries, Bert B.A.
Pfundt, Rolph
Leisink, Martijn
Koolen, David A.
Vissers, Lisenka E.L.M.
Janssen, Irene M.
van Reijmersdal, Simon
Nillesen, Willy M.
Huys, Erik H.L.P.G.
de Leeuw, Nicole
Smeets, Dominique
Sistermans, Erik A.
Feuth, Ton
van Ravenswaaij-Arts, Conny M.A.
van Kessel, Ad Geurts
Schoenmakers, Eric F.P.M.
Brunner, Han G.
Veltman, Joris A.
Journal: American journal of human genetics
Citation: De Vries, Bert B.a et al., Diagnostic Genome Profiling in Mental Retardation, American journal of human genetics , 77(4), 2005, pp. 606-616
Authors:
Johnston, Jennifer J.
Olivos-Glander, Isabelle
Killoran, Christina
Elson, Emma
Turner, Joyce T.
Peters, Kathryn F.
Abbott, Margaret H.
Aughton, David J.
Aylsworth, Arthur S.
Bamshad, Michael J.
Booth, Carol
Curry, Cynthia J.
David, Albert
Binulos, Mary Beth
Flannery, David B.
Fox, Michelle A.
Graham, John M. Jr.
Grange, Dorothy K.
Guttmacher, Alan E.
Hannibal, Mark C.
Henn, Wolfram
Hennekam, Raoul C.M.
Holmes, Lewis B.
Eugene Hoyme, H.
Leppig, Kathleen A.
Lin, Angela E.
MacLeod, Patrick
Manchester, David K.
Marcelis, Carlo
Mazzanti, Laura
McCann, Laura
McDonald, Marie T.
Mendelsohn, Nancy J.
Moeschler, John B.
Moghaddam, Billur
Neri, Giovanni
Newbury-Ecob, Ruth
Pagon, Roberta A.
Philips, John A. III
Sadler, Laurie S.
Stoler, Joan M.
Tilstra, David
Walsh Vockley, Catherine M.
Zachai, Elaine H.
Zadeh, Touran M.
Brueton, Louise
Black, Graeme Charles M.
Biesecker, Leslie G.
Journal: American journal of human genetics
Citation: J. Johnston, Jennifer et al., Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations, American journal of human genetics , 76(4), 2005, pp. 609-622
Authors:
Duan, QIng Ling
Nikpoor, Borzoo
Dubé, Marie-Pierre
Molinaro, Giuseppe
Meijer, Inge A.
Dion, Patrick
Rochefort, Daniel
Saint-Onge, Judith
Flury, Leah
Brown, Nancy J.
Gainer, James V.
Rouleau, Jean L.
Agostoni, Angelo
Cugno, Massimo
Simon, Pierre
Clavel, Pierre
Potier, Jacky
Wehbe, Bassem
Benarbia, Seddik
Marc-Aurèle, Julien
Chanard, Jacques
Foroud, Tatiana
Adam, Albert
Rouleau, Guy A
Journal: American journal of human genetics
Citation: Duan, Qing Ling et al., A Variant in XPNPEP2 Is Associated with Angioedema Induced by Angiotensin I.Converting Enzyme Inhibitors, American journal of human genetics , 77(4), 2005, pp. 617-626
Authors:
Bonnevie-Nielsen, Vagn
Field, L. Leigh
Lu, Shao
Zheng, Dong-Jun
Li, Min
Martensen, Pia M.
Nielsen, Thomas B.
Beck-Nielsen, Henning
Lau, Yu-Lung
Pociot, Flemming
Journal: American journal of human genetics
Citation: Bonnevie-nielsen, Vagn et al., Variation in Antiviral 2.,5.-Oligoadenylate Synthetase (2.5.AS) Enzyme Activity Is Controlled by a Single-Nucleotide Polymorphism at a Splice-Acceptor Site in the OAS1 Gene, American journal of human genetics , 76(4), 2005, pp. 623-633
Authors:
Weinberg, Clarice R.
Umbach, D.M.
Journal: American journal of human genetics
Citation: R. Weinberg, Clarice et Umbach, D.m, A Hybrid Design for Studying Genetic Influences on Risk of Diseases with Onset Early in Life, American journal of human genetics , 77(4), 2005, pp. 627-636
Authors:
Wood, Elizabeth T.
Stover, Daryn A.
Slatkin, Montgomery
Nachman, Michael W.
Hammer, Michael F.
Journal: American journal of human genetics
Citation: T. Wood, Elizabeth et al., The .-Globin Recombinational Hotspot Reduces the Effects of Strong Selection around HbC, a Recently Arisen Mutation Providing Resistance to Malaria, American journal of human genetics , 77(4), 2005, pp. 637-642
Authors:
Maraganore, Demetrius M.
de Andrade, Mariza
Lesnick, Timothy G.
Strain, Kari J.
Farrer, Mathew J.
Rocca, Walter A.
Pant, Krishna P.V.
Frazer, Kelly A.
Cox, David R.
Ballinger, Dennis G.
Journal: American journal of human genetics
Citation: M. Maraganore, Demetrius et al., High-Resolution Whole-Genome Association Study of Parkinson Disease, American journal of human genetics , 77(5), 2005, pp. 685-693
Authors:
Kafchak, Charles M.
Pawar, Hemant
Moroi, Sayoko E.
Sugar, Alan
Lichter, Paul R.
Mackey, David A.
Mian, Shahzad
Nairus, Theresa
Elner, Victor
Schteingart, Miriam T.
Downs, Catherine A.
Guckian Kijek, Theresa
Johnson, Janae M.
Trager, Edward H.
Rozsa, Frank W.
Ali Mandal, Md Nawajes
Epstein, Michael P.
Vollrath, Douglas
Ayyagari, Radha
Boehnke, Michael
Richards, Julia E.
Journal: American journal of human genetics
Citation: M. Kafchak, Charles et al., Mutations in TCF8 Cause Posterior Polymorphous Corneal Dystrophy and Ectopic Expression of COL4A3 by Corneal Endothelial Cells, American journal of human genetics , 77(5), 2005, pp. 694-708
Authors:
Slater, Howard R.
Bailey, Dione K.
Ren, Hua
Cao, Manqiu
Bell, Katrina
Nasioulas, Steven
Henke, Robert
Choo, Andy K.H.
Kennedy, Giulia C.
Journal: American journal of human genetics
Citation: R. Slater, Howard et al., High-Resolution Identification of Chromosomal Abnormalities Using Oligonucleotide Arrays Containing 116,204 SNPs, American journal of human genetics , 77(5), 2005, pp. 709-726