Results : 101-125/181
Authors:
Chen, Dong-Hui
Brkanac, Zoran
Christophe Verlinde, L.M.J.
Tan, Xiao-Jian
Bylenok, Laura
Nochlin, David
Matsushita, Mark
Lipe, Hillary
Wolff, John
Fernandez, Magali
Cimino, P.J.
Bird, Thomas D.
Raskind, Wendy H.
Journal: American journal of human genetics
Citation: Chen, Dong-hui et al., Missense Mutations in the Regulatory Domain of PKC.: A New Mechanism for Dominant Nonepisodic Cerebellar Ataxia, American journal of human genetics , 72(4), 2003, pp. 839-849
Myotonic Dystrophy Type 2: Human Founder Haplotype and Evolutionary Conservation of the Repeat Tract
Authors:
Liquori, Christina L.
Ikeda, Yoshio
Weatherspoon, Marcy
Ricker, Kenneth
Schoser, Benedikt G.H.
Dalton, Joline C.
Day, John W.
Ranum, Laura P.W.
Journal: American journal of human genetics
Citation: L. Liquori, Christina et al., Myotonic Dystrophy Type 2: Human Founder Haplotype and Evolutionary Conservation of the Repeat Tract, American journal of human genetics , 73(4), 2003, pp. 849-862
Authors:
Fan, Ruzong
Knapp, Michael
Journal: American journal of human genetics
Citation: Fan, Ruzong et Knapp, Michael, Genome Association Studies of Complex Diseases by Case-Control Designs, American journal of human genetics , 72(4), 2003, pp. 850-868
Authors:
Cuenco, Karen T.
Szatkiewicz, Jin P.
Feingold, Eleanor
Journal: American journal of human genetics
Citation: T. Cuenco, Karen et al., Recent Advances in Human Quantitative-Trait.Locus Mapping: Comparison of Methods for Selected Sibling Pairs, American journal of human genetics , 73(4), 2003, pp. 863-873
Authors:
Jacquemont, Sébastien
Hagerman, Randi J.
Leehey, Maureen
Grigsby, Jim
Zhang, Lin
Brunberg, James A.
Greco, Claudia
Des Portes, Vincent
Jardini, Tristan
Levine, Richard
Berry-Kravis, Elizabeth
Brown, W. Ted
Schaeffer, Stephane
Kissel, John
Tassone, Flora
Hagerman, Paul J..
Journal: American journal of human genetics
Citation: Jacquemont, Sébastien et al., Fragile X Premutation Tremor/Ataxia Syndrome: Molecular, Clinical, and Neuroimaging Correlates, American journal of human genetics , 72(4), 2003, pp. 869-878
Authors:
Cuenco, Karen T.
Szatkiewicz, Jin P.
Feingold, Eleanor
Journal: American journal of human genetics
Citation: T. Cuenco, Karen et al., Recent Advances in Human Quantitative-Trait.Locus Mapping: Comparison of Methods for Discordant Sibling Pairs, American journal of human genetics , 73(4), 2003, pp. 874-885
Authors:
Fullerton, Jan
Cubin, Matthew
Tiwari, Hemant
Wang, chenxi
Bomhra, Amarjit
Davidson, Stuart
Miller, Sue
Fairburn, Christopher
Goodwin, Guy
Neale, Michael C.
Fiddy, Simon
Mott, RIchard
Allison, David B.
Flint, Jonathan
Journal: American journal of human genetics
Citation: Fullerton, Jan et al., Linkage Analysis of Extremely Discordant and Concordant Sibling Pairs Identifies Quantitative-Trait Loci That Influence Variation in the Human Personality Trait Neuroticism, American journal of human genetics , 72(4), 2003, pp. 879-890
Authors:
Yonan, Amanda L.
Alarcón, Maricela
Cheng, Rong
Magnusson, Patrick K.E.
Spence, Sarah J.
Palmer, Abraham A.
Grunn, Adina
Hank Juo, Suh-Hang
Terwilliger, Joseph D.
Liu, Jianjun
Cantor, Rita M.
Geschwind, Daniel H.
Gilliam, T. Conrad
Journal: American journal of human genetics
Citation: L. Yonan, Amanda et al., A Genomewide Screen of 345 Families for Autism-Susceptibility Loci, American journal of human genetics , 73(4), 2003, pp. 886-897
Authors:
Tzeng, Jung-Ying
Devlin, B.
Wasserman, Larry
Roeder, Kathryn
Journal: American journal of human genetics
Citation: Tzeng, Jung-ying et al., On the Identification of Disease Mutations by the Analysis of Haplotype Similarity and Goodness of Fit, American journal of human genetics , 72(4), 2003, pp. 891-902
Authors:
Chai, J-H.
Locke, D.P.
Greally, J.M.
Knoll, J.H.M.
Ohta, T.
Dunai, J.
Yavor, A.
Eichler, E.E.
Nicholls, R.D.
Journal: American journal of human genetics
Citation: Chai, J-h et al., Identification of Four Highly Conserved Genes between Breakpoint Hotspots BP1 and BP2 of the Prader-Willi/Angelman Syndromes Deletion Region That Have Undergone Evolutionary Transposition Mediated by Flanking Duplicons, American journal of human genetics , 73(4), 2003, pp. 898-925
Authors:
Pajukanta, Päivi
Allayee, Hooman
Krass, Kelly L.
Kuraishy, Ali
Soro, Aino
Lilja, Heidi E.
Mar, Rebecca
Taskinen, Marja-Riitta
Nuotio, Ilpo
Laakso, Markku
Rotter, Jerome I.
de Bruin Tjerk, W.A.
Cantor, M. Rita
Aldons Lusis, J.
Peltonen, Leena
Journal: American journal of human genetics
Citation: Pajukanta, Päivi et al., Combined Analysis of Genome Scans of Dutch and Finnish Families Reveals a Susceptibility Locus for High-Density Lipoprotein Cholesterol on Chromosome 16q, American journal of human genetics , 72(4), 2003, pp. 903-917
Authors:
Cardoso, Carlos
Leventer, Richard J.
Ward, Heather L.
Toyo-oka, Kazuhito
Chung, June
Gross, Alyssa
Martin, Christa L.
Allanson, Judith
Pilz, Daniela T.
Olney, Ann H.
Mutchinick, Osvaldo M.
Hirotsune, Shinji
Wynshaw-Boris, Anthony
Dobyns, William B.
Ledbetter, David H.
Journal: American journal of human genetics
Citation: Cardoso, Carlos et al., Refinement of a 400-kb Critical Region Allows Genotypic Differentiation between Isolated Lissencephaly, Miller-Dieker Syndrome, and Other Phenotypes Secondary to Deletions of 17p13.3, American journal of human genetics , 72(4), 2003, pp. 918-930
Authors:
Flanigan, Kevin M.
von Nederhausern, Andrew
Dunn, Diane M.
Alder, Jonathan
Mendell, Jerry R.
Weiss, Robert B.
Journal: American journal of human genetics
Citation: M. Flanigan, Kevin et al., Rapid Direct Sequence Analysis of the Dystrophin Gene, American journal of human genetics , 72(4), 2003, pp. 931-939
Authors:
Zhang, Anju
Zheng, Chengyun
Hou., Mi
Lindvall, Charlotta
Li, Ke-Jun
Erlandsson, Fredrik
Björkholm, Magnus
Gruber, Astrid
Blennow, Elisabeth
Xu, Dawei
Journal: American journal of human genetics
Citation: Zhang, Anju et al., Deletion of the Telomerase Reverse Transcriptase Gene and Haploinsufficiency of Telomere Maintenance in Cri du Chat Syndrome, American journal of human genetics , 72(4), 2003, pp. 940-948
Authors:
Zitkiewicz, Ewa
Yotova, Vania
Gehl, Dominik
Wambach, Tina
Arrieta, Isabel
Batzer, Mark
Cole, David E.C.
Hechtman, Peter
Kaplan, Feige
Modiano, David
Moisan, Jean-Paul
Michalski, Roman
Labuda, Damian
Journal: American journal of human genetics
Citation: Zitkiewicz, Ewa et al., Haplotypes in the Dystrophin DNA Segment Point to a Mosaic Origin of Modern Human Diversity, American journal of human genetics , 73(5), 2003, pp. 947-1015
Authors:
Huang, Jian
Jiang, Yanming
Journal: American journal of human genetics
Citation: Huang, Jian et Jiang, Yanming, Genetic Linkage Analysis of a Dichotomous Trait Incorporating a Tightly Linked Quantitative Trait in Affected Sib Pairs, American journal of human genetics , 72(4), 2003, pp. 949-960
Authors:
Rickard, Sarah J.
Wilson, Louise C.
Journal: American journal of human genetics
Citation: J. Rickard, Sarah et C. Wilson, Louise, Analysis of GNAS1 and Overlapping Transcripts Identifies the Parental Origin of Mutations in Patients with Sporadic Albright Hereditary Osteodystrophy and Reveals a Model System in Which to Observe the Effects of Splicing Mutations on Translated and Untranslated Messenger RNA, American journal of human genetics , 72(4), 2003, pp. 961-974
Authors:
Hwang, Shih-Jen
Lozano, Guillermina
Amo, Christopher I.
Strong, Louise C.
Journal: American journal of human genetics
Citation: Hwang, Shih-jen et al., Germline p53 Mutations in a Cohort with Childhood Sarcoma: Sex Differences in Cancer Risk, American journal of human genetics , 72(4), 2003, pp. 975-983
Authors:
Johnson, David
Kan, Shih-hsin
Oldridge, Michael
Trembath, Richard C.
Roche, Philippe
Esnouf, Robert M.
Giele, Henk
Wilkie, O.M. Andrew
Journal: American journal of human genetics
Citation: Johnson, David et al., Missense Mutations in the Homeodomain of HOXD13 Are Associated with Brachydactyly Types D and E, American journal of human genetics , 72(4), 2003, pp. 984-997
Authors:
Björnsson, Ásgeir
Gudmundsson, Grétar
Gudfinnsson, Einar
Hrafnsdòttir, Marìa
Benedikz, John
Skúladóttir, Svanhildur
Kristjánsson, Kristleifur
Frigge, Michael L.
Kong, Augustine
Stefánsson, Kári
Gulcher, Jeffrey R.
Journal: American journal of human genetics
Citation: Björnsson, Ásgeir et al., Localization of a Gene for Migraine without Aura to Chromosome 4q21, American journal of human genetics , 73(5), 2003, pp. 986-993
Authors:
Martin, Eden R.
Bass, Meredyth, P.
Hauser, Elizabeth R.
Kaplan, Norman L.
Journal: American journal of human genetics
Citation: R. Martin, Eden et al., Accounting for Linkage in Family-Based Tests of Association with Missing Parental Genotypes, American journal of human genetics , 73(5), 2003, pp. 1016-1026
Authors:
Ensenauer, Regina E.
Adeyinka, Adewale
Flynn, Heather C.
Michels, Virginia V.
Lindor, Noralene M.
Dawson, D. Brian
Thorland, Erik C.
Smith, Wendy E.
Simon- Fayard, ELba
Alexander, Alan A.
Kulharya, Anita S.
Ketterling, Rhett P.
Clark, Robin D.
Jalal, Syed M.
Pham Lorentz, Cindy
Goldstein, Jennifer L.
McDonald, Marie T.
Journal: American journal of human genetics
Citation: E. Ensenauer, Regina et al., Microduplication 22q11.2, an Emerging Syndrome: Clinical, Cytogenetic, and Molecular Analysis of Thirteen Patients, American journal of human genetics , 73(5), 2003, pp. 1027-1040
Authors:
Scott, William K.
Hauser, Elizabeth R.
Schmechel, Donald E.
Welsh-Bohmer, Kathleen A.
Small, Gary W.
Roses, Allen D.
Saunders, Ann M.
Gibert, John R.
Vance, Jeffrey M.
Haines, Jonathan L.
Pericak-Vance, Margaret A.
Journal: American journal of human genetics
Citation: K. Scott, William et al., Ordered-Subsets Linkage Analysis Detects Novel Alzheimer Disease Loci on Chromosomes 2q34 and 15q22, American journal of human genetics , 73(5), 2003, pp. 1041-1051
Authors:
Bucheton, Bruno
Abel, Laurent
El-Safi, Sayda
Kheir, Musa M.
Pavek, Sylvana
Lemainque, Arnaud
Dessein, Alain J.
Journal: American journal of human genetics
Citation: Bucheton, Bruno et al., A Major Susceptibility Locus on Chromosome 22q12 Plays a Critical Role in the Control of Kala-Azar, American journal of human genetics , 73(5), 2003, pp. 1052-1060
Authors:
Roberts, S.E.
Maggouta, F.
Thomas, N.S.
Jacobs, P.A.
Crolla, J.A.
Journal: American journal of human genetics
Citation: Roberts, S.e et al., Molecular and Fluorescence In Situ Hybridization Characterization of the Breakpoints in 46 Large Supernumerary Marker 15 Chromosomes Reveals an Unexpected Level of Complexity, American journal of human genetics , 73(5), 2003, pp. 1061-1072