Results : 1-25/119
Authors:
Zeng, Wen-Qi
Al-Yamani, Eiman
Acierno, James S. Jr.
Slaugenhaupt, Susan
Gillis, Tammy
MacDonald, Marcy E.
Ozand, Pinar T.
Gusella, James F.
Journal: American journal of human genetics
Citation: Zeng, Wen-qi et al., Biotin-Responsive Basal Ganglia Disease Maps to 2q36.3 and Is Due to Mutations in SLC19A3, American journal of human genetics , 77(1), 2005, pp. 16-26
Authors:
Zhao, Jinying
Boerwinkle, Eric
Xiong, Momiao
Journal: American journal of human genetics
Citation: Zhao, Jinying et al., An Entropy-Based Statistic for Genomewide Association Studies, American journal of human genetics , 77(1), 2005, pp. 27-40
Authors:
Weiss, Lauren A.
Abney, Mark
Cook, Edwin H. Jr.
Ober, Carole
Journal: American journal of human genetics
Citation: A. Weiss, Lauren et al., Sex-Specific Genetic Architecture of Whole Blood Serotonin Levels, American journal of human genetics , 76(1), 2005, pp. 33-41
Authors:
Schwartz, Charles E.
May, Melanie M.
Carpenter, Nancy J.
Rogers, CUris R.
Martin, Judith
Bialer, Martin G.
Ward, Jewell
Sananbria, Javier
Marsa, Silvana
Lewis, James A.
Echeverri, Roberto
Lubs, Herbert A.
Voeller, Kytja
Simensen, Richard J.
Stevenson, Roger E.
Journal: American journal of human genetics
Citation: E. Schwartz, Charles et al., Allan-Herndon-Dudley Syndrome and the Monocarboxylate Transporter 8 (MCT8) Gene, American journal of human genetics , 77(1), 2005, pp. 41-53
Authors:
Bergametti, F.
Denier, C.
Labauge, P.
Arnoult, M.
Boetto, S.
Clanet, M.
Coubes, P.
Echenne, B.
Ibrahim, R.
Irthum, B.
Jacquet, G.
Lonjon, M.
Moreau, J.J.
Neau, J.P.
Parker, F.
Tremoulet, M.
Tournier-Lasserve, E.
Société Française de Neurochirurgie
Journal: American journal of human genetics
Citation: F. Bergametti, et al., Mutations within the Programmed Cell Death 10 Gene Cause Cerebral Cavernous Malformations, American journal of human genetics , 76(1), 2005, pp. 42-51
Authors:
Visser, Remco
Shimokawa, Osamu
Harada, Naoki
Kinoshita, Akira
Ohta, Tohru
Niikawa, Norio
Matsumoto, Naomichi
Journal: American journal of human genetics
Citation: Visser, Remco et al., Identification of a 3.0-kb Major Recombination Hotspot in Patients with Sotos Syndrome Who Carry a Common 1.9-Mb Microdeletion, American journal of human genetics , 76(1), 2005, pp. 52-67
Authors:
Li, Shouling
Tiab, Leila
Jiao, Xiaodong
Munier, Francis L.
Zografos, Leonidas
Frueh, Béatrice
Sergeev, Yuri
Smith, Janine
Rubin, Benjamin
Meallet, Mario A.
Forster, RIchard K.
Hejtmancik, Fielding J.
Schorderet, Daniel F.
Journal: American journal of human genetics
Citation: Li, Shouling et al., Mutations in PIP5K3 Are Associated with François-Neetens Mouchetée Fleck Corneal Dystrophy, American journal of human genetics , 77(1), 2005, pp. 54-63
Authors:
Carlson, Christopher S.
Force Aldred, Shelley
Lee, Philip K.
Tracy, Russell P.
Schwartz, Stephen M.
Rieder, Mark
Liu, Kiang
Williams, Dale O.
Irribaren, Carlos
Lewis, Cora E.
Fornage, Myriam
Boerwinkle, Eric
Gross, Myron
Jaquish, Cashell
Nickerson, Deborah A.
Myers, Richard M.
Siscovick, David S.
Reiner, Alexander P.
Journal: American journal of human genetics
Citation: S. Carlson, Christopher et al., Polymorphisms within the C-Reactive Protein (CRP) Promoter Region Are Associated with Plasma CRP Levels, American journal of human genetics , 77(1), 2005, pp. 64-77
Authors:
Ju Sung, Yun
Dawson, Geraldine
Munson, Jeffrey
Estes, Annette
Schellenberg, Gerard D.
Wijsman, Ellen M.
Journal: American journal of human genetics
Citation: Ju Sung, Yun et al., Genetic Investigation of Quantitative Traits Related to Autism: Use of Multivariate Polygenic Models with Ascertainment Adjustment, American journal of human genetics , 76(1), 2005, pp. 68-81
Authors:
Sharp, Andrew J.
Locke, Devin P.
McGranth, Sean D.
Cheng, Ze
Bailey, Jeffrey A.
Vallante, Rhea U.
Pertz, Lisa M.
Clark, Royden A.
Schwartz, Stuart
Segraves, Rick
Oseroff, Vanessa V.
Albertson, Donna G.
Pinkel, Daniel
Eichler, Evan E.
Journal: American journal of human genetics
Citation: J. Sharp, Andrew et al., Elevated plasma levels of C-reactive protein (CRP), an inflammation-sensitive marker, have emerged as an important predictor of future cardiovascular disease and metabolic abnormalities in apparently healthy men and women. Here, we performed a systematic survey of common nucleotide variation across the genomic region encompassing the CRP gene locus. Of the common single-nucleotide polymorphisms (SNPs) identified, several in the CRP promoter region are strongly associated with CRP levels in a lar, American journal of human genetics , 77(1), 2005, pp. 78-88
Authors:
Freedman, Matthew L.
Pearce, Celeste L.
Penney, Kahtryn L.
Hirschhorn, Joel N.
Kolonel, Laurence N.
Henderson, Brian E.
Altshuler, David
Journal: American journal of human genetics
Citation: L. Freedman, Matthew et al., Systematic Evaluation of Genetic Variation at the Androgen Receptor Locus and Risk of Prostate Cancer in a Multiethnic Cohort Study, American journal of human genetics , 76(1), 2005, pp. 82-90
Authors:
Schneider, Katja U.
Sabherwal, Nitin
Jantz, Karin
Röth, Ralph
Muncke, Nadja
Blum, Werner F.
Cutler, Gordon B. Jr.
Rappold, Gudrun
Journal: American journal of human genetics
Citation: U. Schneider, Katja et al., Identification of a Major Recombination Hotspot in Patients with Short Stature and SHOX Deficiency, American journal of human genetics , 77(1), 2005, pp. 89-96
Authors:
Lamb, Neil E.
Yu, Kai
Shaffer, John
Feingold, Eleanor
Sherman, Stephanie L.
Journal: American journal of human genetics
Citation: E. Lamb, Neil et al., Association between Maternal Age and Meiotic Recombination for Trisomy 21, American journal of human genetics , 76(1), 2005, pp. 91-99
Authors:
Diao, G.
Lin, D.Y.
Journal: American journal of human genetics
Citation: G. Diao, et Lin, D.y, A Powerful and Robust Method for Mapping Quantitative Trait Loci in General Pedigrees, American journal of human genetics , 77(1), 2005, pp. 97-111
Authors:
de Geus, E.J.C.
Posthuma, D.
Kupper, N.
van der Berg, M.
Willemsen, G.
Beem, A.L.
Slagboom, P.E.
Boomsma, D.I.
Journal: American journal of human genetics
Citation: De Geus, E.j.c et al., A Whole-Genome Scan for 24-Hour Respiration Rate: A Major Locus at 10q26 Influences Respiration During Sleep, American journal of human genetics , 76(1), 2005, pp. 100-111
Authors:
Lenzi, Michelle L.
Smith, Jenetta
Snowden, Timothy
Kim, Mimi
Fishel, Richard
Pouls, Brardford K.
Cohen, Paula E.
Journal: American journal of human genetics
Citation: L. Lenzi, Michelle et al., Extreme Heterogeneity in the Molecular Events Leading to the Establishment of Chiasmata during Meiosis I in Human Oocytes, American journal of human genetics , 76(1), 2005, pp. 112-127
Authors:
Schaid, Daniel J.
Sinnwell, Jason P.
Thibodeau, Stephen N.
Journal: American journal of human genetics
Citation: J. Schaid, Daniel et al., Robust Multipoint Identical-by-Descent Mapping for Affected Relative Pairs, American journal of human genetics , 76(1), 2005, pp. 128-138
Authors:
Tatton-Brown, Katrina
Douglas, Jenny
Coleman, Kim
Baujat, Geneviève
Cole, Trevor R.P.
Das, Soma
Horn, Denise
Hughes, Helen E.
Temple, Karen I.
Faravelli, Francesca
Waggoner, Darrel
Türkmen, Seval
Cormier-Daire, Valérie
Irrthum, Alexandre
Rahman, Nazneen
Childhood Overgrowth Collaboration
Journal: American journal of human genetics
Citation: Tatton-brown, Katrina et al., Genotype-Phenotype Associations in Sotos Syndrome: An Analysis of 266 Individuals with NSD1 Aberrations, American journal of human genetics , 77(2), 2005, pp. 193-204
Authors:
Beysen, D.
Raes, J.
Leroy, B.P.
Lucassen, A.
Yates, J.R.W.
Clayton-Smith, J.
Ilyina, H.
Sklower Brooks, S.
Christin-Maitre, S.
Fellous, M.
Fryns, J.P.
Kim, J.R.
Lapunzina, P.
Lemyre, E.
Meire, F.
Messiaen, L.M.
Oley, C.
Splitt, M.
Thomson, J.
Van der Peer, Y.
Veitia, R.A.
De Paepe, A.
De Baere, E.
Journal: American journal of human genetics
Citation: D. Beysen, et al., Deletions Involving Long-Range Conserved Nongenic Sequences Upstream and Downstream of FOXL2 as a Novel Disease-Causing Mechanism in Blepharophimosis Syndrome, American journal of human genetics , 77(2), 2005, pp. 205-218
Authors:
Xu, Jianfeng
Dimitrov, Latchezar
Chang, Bao-Li
Adams, Tamara S.
Turner, Aubrey R.
Meyers, Deborah A.
Eeles, Rosalind A.
Easton, Douglas F.
Foulkes, William D.
Simard, Jacques
Giles, Graham G.
Hopper, John L.
Mahle, Lovise
Moller, Pal
Bishop, Tim
Evans, Chris
Edwards, Steve
Meitz, Julia
Bullock, Sarah
Hope, Questa
ACTANE Consortium
Hsieh, Chih-Iin
Halpern, Jerry
Balise, Raymond N.
Oakley-Girvan, Ingrid
Whittemore, Alice S.
Ewing, Charles M.
Gielzak, Marta
Isaacs, Sarah D.
Walsh, Patrick C.
Wiley, Kathleen E.
Isaacs, William B.
Thibodeau, Stephen N.
McDonnell, Shannon K.
Cunningham, Julie M.
Zarfas, Katherine E.
Hebbring, Scott
Schaid, Daniel J.
Friedrichsen, Danielle M.
Deutsch, Kerry
Kolb, Suzanne
Badzioch, Michael
Jarvik, Gail P.
Janer, Marta
Hood, Leroy
Ostrander, Elaine A.
Stanford, Janet L.
Lange, Ethan M.
Beebe-Dimmer, Jennifer L.
Mohai, Caroline E.
Cooney, Kathleen A.
Ikonen, Tarja
Baffoe-Bonnie, Agnes
Fredriksson, henna
Matikainen, Mika P.
Tammela, Teuvo LJ
Bailey-Wilson, Joan
Schleutker, Johanna
Maier, Christiane
Herkommer, Kathleen
Hoegel, Josef J.
Vogel, Walther
Paiss, Thomas
Wiiklund, Fredrik
Emanuelsson, Monica
Stenman, Elisabeth
Jonsson, Björn-Anders
Grönberg, Henrik
Camp, Nicola J.
Farnham, James
Cannon-Albright, Lisa A.
Seminara, Daniela
Journal: American journal of human genetics
Citation: Xu, Jianfeng et al., A Combined Genomewide Linkage Scan of 1,233 Families for Prostate Cancer.Susceptibility Genes Conducted by the International Consortium for Prostate Cancer Genetics, American journal of human genetics , 77(2), 2005, pp. 219-229
Authors:
Riff Jensen, Lars
Amende, Marion
Gurok, Ulf
Moser, Betina
Gimmel, Verena
Tzschach, Andreas
Janecke, Andreas R.
Tariverdian, Gholamali
Chelly, Verena
Fryns, Jean-Pierre
Van Esch, Hilde
Kleefstra, Tjitske
Hamel, Ben
Moraine, Claude
Gécz, Jozef
Turner, Gillian
Reinhardt, Richard
Kalscheuer, Vera M.
Ropers, Hans-Hilger
Lenzner, Steffen
Journal: American journal of human genetics
Citation: Riff Jensen, Lars et al., Mutations in the JARID1C Gene, Which Is Involved in Transcriptional Regulation and Chromatin Remodeling, Cause X-Linked Mental Retardation, American journal of human genetics , 76(2), 2005, pp. 227-236
Authors:
Franke, Daniel
Ziegler, Andreas
Journal: American journal of human genetics
Citation: Franke, Daniel et Ziegler, Andreas, Weighting Affected Sib Pairs by Marker Informativity, American journal of human genetics , 77(2), 2005, pp. 230-241
Authors:
Venken, Tine
Claes, Stephan
Sluijs, Samuël
Paterson, Andrew D.
van Duijin, Cornelia
Adolfson, Rolf
Del-Favero, Jurgen
Van Broeckhoven, Christine
Journal: American journal of human genetics
Citation: Venken, Tine et al., Genomewide Scan for Affective Disorder Susceptibility Loci in Families of a Northern Swedish Isolated Population, American journal of human genetics , 76(2), 2005, pp. 237-248
Authors:
Sprecher, Eli
Ishida-Yamamoto, Akemi
Miizrahi-Koren, Mordechai
Rapaport, Debora
Goldsher, Dorit
Indelman, Margarita
Topaz, Orit
Chefetz, Ilana
Keren, Hanni
O'Brien, Timothy J.
Bercovich, Dani
Shalev, Stavit
Geiger, Dan
Bergman, Reuven
Horowitz, Mia
Mandel, Hanna
Journal: American journal of human genetics
Citation: Sprecher, Eli et al., A Mutation in SNAP29, Coding for a SNARE Protein Involved in Intracellular Trafficking, Causes a Novel Neurocutaneous Syndrome Characterized by Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma, American journal of human genetics , 77(2), 2005, pp. 242-251
Authors:
Purcell, Shaun
Sham, Pak
Daly, Mark J.
Journal: American journal of human genetics
Citation: Purcell, Shaun et al., Parental Phenotypes in Family-Based Association Analysis, American journal of human genetics , 76(2), 2005, pp. 249-259