Results : 1-25/138
Authors:
Barbouti, Aikaterini
Stankiewicz, Pawel
Nusbaum, Chad
Cuomo, Christina
Cook, April
Höglund, Mattias
Johansson, Bertil
Hagemeijer, Anne
Park, Sung-Sup
Mitelman, Felix
Lupski, James R.
Fioretos, Thoas
Journal: American journal of human genetics
Citation: Barbouti, Aikaterini et al., The Breakpoint Region of the Most Common Isochromosome, i(17q), in Human Neoplasia Is Characterized by a Complex Genomic Architecture with Large, Palindromic, Low-Copy Repeats, American journal of human genetics , 74(1), 2004, pp. 1-10
Authors:
Ikeda, Yoshio
Dalton, Joline C.
Moseley, Melinda L.
Gardner, Kathy L.
Bird, Thomas D.
Ashizawa, Tetsuo
Seltzer, William K.
Pandolfo, Massimo
Milunsky, Aubrey
Potter, Nicholas T.
Shoji, Mikio
Vincent, John B.
Day, John W.
Ranum, Laura P.W.
Journal: American journal of human genetics
Citation: Ikeda, Yoshio et al., Spinocerebellar Ataxia Type 8: Molecular Genetic Comparisonsand Haplotype Analysis of 37 Families with Ataxia, American journal of human genetics , 75(1), 2004, pp. 3-16
Authors:
Zimprich, Alexander
Müller-Myhsok, Bertram
Farrer, Matthew
Leitner, Petra
Sharma, Manu
Hulihan, Mary
Lockhart, Paul
Strongosky, Audrey
Kachergus, Jennifer
Calne, Donald B.
Stoessl, Jon
Uitti, Ryan J.
Pfeiffer, Ronald F.
Ttrenkwalder, Claudia
Homann, Nikolaus
Ott, Erwin
Wenzel, Karoline
Asmus, Friedrich
Hardy, John
Wszolek, Zbigniew
Gasser, Thomas
Journal: American journal of human genetics
Citation: Zimprich, Alexander et al., The PARK8 Locus in Autosomal Dominant Parkinsonism: Confirmation of Linkage and Further Delineation of the Disease-Containing Interval, American journal of human genetics , 74(1), 2004, pp. 11-19
Authors:
Yu, Xihiang
Knott, Sara A.
Visscher, Peter M.
Journal: American journal of human genetics
Citation: Yu, Xihiang et al., Theoretical and Empirical Power of Regression and Maximum-Likelihood Methods to Map Quantitative Trait Loci in General Pedigrees, American journal of human genetics , 75(1), 2004, pp. 17-26
Authors:
Iyengar, Sudha K.
Song, Danhong
Klein, Barbara E.
Klein, Ronald
Schick, James H.
Humphrey, Jennifer
Millard, Christopher
Liptak, Rachel
Russo, Karlie
Jun, Gyungah
Lee, Kristine E.
Fijal, Bonnie
Elston, Robert C.
Journal: American journal of human genetics
Citation: K. Iyengar, Sudha et al., Dissection of Genomewide-Scan Data in Extended Families Reveals a Major Locus and Oligogenic Susceptibility for Age-Related Macular Degeneration, American journal of human genetics , 74(1), 2004, pp. 20-39
Authors:
Bartels, Cynthia F.
Bükülmez, Hülya
Padayatti, Pius
Rhee, David K.
Ravenswaaij-Arts, Conny, Van
Pauli, Richard M.
Mundlos, Stefan
Chiatayat, David
Shih, Ling-Yu
Al-Gazali, Lihadh I.
Kant, Sarina
Cole, Trevor
Morton, Jenny
Cormier-Daire, Valérie
Faivre, Laurence
Lees, Melissa
Kirk, Jeremy
Mortier, Geert R.
Leory, Jules
Zabel, Bernhard
Kim, Chong Ae
Crow, Yanick
Braveman, Nancy E.
Akker, Focco, Van : der
Warman, Matthew L.
Journal: American journal of human genetics
Citation: F. Bartels, Cynthia et al., Mutations in the Transmembrane Natriuretic Peptide Receptor NPR-B Impair Skeletal Growth and Cause Acromesomelic Dysplasia, Type Maroteaux, American journal of human genetics , 75(1), 2004, pp. 27-34
Authors:
Durrant, Caroline
Zondervan, Krina T.
Cardon, Lon R.
Hunt, Sarah
Deloukas, Panos
Morris, Andrew P.
Journal: American journal of human genetics
Citation: Durrant, Caroline et al., Linkage Disequilibrium Mapping via Cladistic Analysis of Single-Nucleotide Polymorphism Haplotypes, American journal of human genetics , 75(1), 2004, pp. 35-43
Authors:
Anderson, Eric C.
Slatkin, Montgomery
Journal: American journal of human genetics
Citation: C. Anderson, Eric et Slatkin, Montgomery, Population-Genetic Basis of Haplotype Blocks in the 5q31 Region, American journal of human genetics , 74(1), 2004, pp. 40-49
Authors:
Lemmers, Richard J.L.F.
Overveld, Petra G.M., Van
Sandkuijl, Lodewijk A.
Vrieling, Harry
Padberg, George W.
Frants, Rune R.
Maarel, Silvère M., Van:der
Journal: American journal of human genetics
Citation: Lemmers, Richard J.l.f et al., Mechanism and Timing of Mitotic Rearrangements in the Subtelomeric D4Z4 Repeat Involved in Facioscapulohumeral Muscular Dystrophy, American journal of human genetics , 75(1), 2004, pp. 44-53
Authors:
Zhivotovsky, Lev A.
Underhill, Peter A.
Cinnio.lu, Cengiz
Kayser, Manfred
Morar, Bharti
Kivisild, Toomas
Scozzari, Rosaria
Cruciani, Fulvio
Destro-Bisol, Giovanni
Spedini, Gabriella
Chambers, Geoffrey K.
Herrera, Rene J.
Yong, Kiau Kiun
Gresham, David
Tournev, Ivailo
Feldman, Marcus W.
Kalaydjieva, Luba
Journal: American journal of human genetics
Citation: A. Zhivotovsky, Lev et al., The Effective Mutation Rate at Y Chromosome Short Tandem Repeats, with Application to Human Population-Divergence Time, American journal of human genetics , 74(1), 2004, pp. 50-61
Authors:
John, Sally
Shephard, Neil
Liu, Guoying
Zeggini, Eleftheria
Cao, Manqiu
Chen, Wenwei
Vasavda, Nisha
Mills, Tracy
Barton, Anne
Hinks, Anne
Eyre, Steve
Jones, Keith W.
Ollier, William
Silman, Alan
Gibson, Neil
Worthington, Jane
Kennedy, Giulia C.
Journal: American journal of human genetics
Citation: John, Sally et al., Whole-Genome Scan, in a Complex Disease, Using 11,245 Single-Nucleotide Polymorphisms: Comparison with Microsatellites, American journal of human genetics , 75(1), 2004, pp. 54-64
Authors:
Zöllner, Sebastian
Wen, Xiaoquan
Hanchard, Neil A.
Herbert, Mark A.
Ober, Carole
Pritchard, Jonathan K.
Journal: American journal of human genetics
Citation: Zöllner, Sebastian et al., Evidence for Extensive Transmission Distortion in the Human Genome, American journal of human genetics , 74(1), 2004, pp. 62-72
Authors:
Wilcox, William R.
Banikazemi, Maryam
Guffon, Nathalie
Waldek, Stephen
Lee, Philip
Linthorst, Gabor E.
Desnick, Robert J.
Germain, Dominique P.
for the International Fabry Disease Study Group
Journal: American journal of human genetics
Citation: R. Wilcox, William et al., Long-Term Safety and Efficacy of Enzyme Replacement Therapyfor Fabry Disease, American journal of human genetics , 75(1), 2004, pp. 65-74
Authors:
Nath, Swapan K.
Quintero-Del-Rio, Ana I.
Kilpatrick, Jeff
Feo, Lourdes
Ballesteros, Maria
Harley, John B.
Journal: American journal of human genetics
Citation: K. Nath, Swapan et al., Linkage at 12q24 with Systemic Lupus Erythematosus (SLE) Is Established and Confirmed in Hispanic and European American Families, American journal of human genetics , 74(1), 2004, pp. 73-82
Authors:
Aartsma-Rus, Annemieke
Janson, Anneke A.M.
Kaman, Wendy E.
Bremmer-Bout, Mattie
Ommen, Gert-Jan B., Van
den Dunnen, Johan T.
Deutekom, Judith C.T., Van
Journal: American journal of human genetics
Citation: Aartsma-rus, Annemieke et al., Antisense-Induced Multiexon Skipping for Duchenne Muscular Dystrophy Makes More Sense, American journal of human genetics , 74(1), 2004, pp. 83-92
Authors:
Ware, Stephanie M.
Peng, Jianlan
Zhu, Lirong
Fernbach, Susan
Colicos, Suzanne
Casey, Brett
Towbin, Jeffrey
Belmont, John W.
Journal: American journal of human genetics
Citation: M. Ware, Stephanie et al., Identification and Functional Analysis of ZIC3 Mutations in Heterotaxy and Related Congenital Heart Defects, American journal of human genetics , 74(1), 2004, pp. 93-105
Authors:
Carlson, Christopher S.
Eberle, Michael A.
Rieder, Mark J.
Yi, Qian
Kruglyak, Leonid
Nickerson, Deborah A.
Journal: American journal of human genetics
Citation: S. Carlson, Christopher et al., Selecting a Maximally Informative Set of Single-Nucleotide Polymorphisms for Association Analyses Using Linkage Disequilibrium, American journal of human genetics , 74(1), 2004, pp. 106-120
Authors:
McCandless, Shawn E.
Brunger, Jeanne W.
Cassidy, Suzanne B.
Journal: American journal of human genetics
Citation: E. Mccandless, Shawn et al., The Burden of Genetic Disease on Inpatient Care in a Children.s Hospital, American journal of human genetics , 74(1), 2004, pp. 121-127
Authors:
Tuson, Miquel
Marfany, Gemma
Gonzàlez-Duarte, Roser
Journal: American journal of human genetics
Citation: Tuson, Miquel et al., Mutation of CERKL, a Novel Human Ceramide Kinase Gene, Causes Autosomal Recessive Retinitis Pigmentosa (RP26), American journal of human genetics , 74(1), 2004, pp. 128-138
Authors:
Zhao, Hui
Li, Ronghua
Wang, Qiuju
Yan, Qingfeng
Deng, Jian-Hong
Han, Dongyi
Bai, Yidong
Young, Wie-Yen
Guan, Min-Xin
Journal: American journal of human genetics
Citation: Zhao, Hui et al., Maternally Inherited Aminoglycoside-Induced and Nonsyndromic Deafness Is Associated with the Novel C1494T Mutation in the Mitochondrial 12S rRNA Gene in a Large Chinese Family, American journal of human genetics , 74(1), 2004, pp. 139-152
Authors:
Marazita, Mary L.
Murray, Jeffrey C.
Lidral, Andrew C.
Arcos-Burgos, Mauricio
Cooper, Margaret E.
Goldstein, Toby
Maher, brion S.
Daack-Hirsch, Sandra
Schultz, Rebecca
mansilla, M. Adela
Field, L.Leigh
Liu, You-e
Prescott, Natalie
Malcom, Sue
Winter, Robin
Ray, Ajit
Moreno, Lina
Valencia, Consuelo
Neiswanger, Katherine
Wyszynski, Diego F.
Bailey-Wilson, Joan E.
Albacha-Hejazi, Hasan
Beaty, Terri H.
McIntosh, Iain
Hetmanski, Jacqueline B.
Tunçbilek, Gökhan
Edwards, Matthew
Harkin, Louise
Scott, Rodney
Roddick, Laurence G.
Journal: American journal of human genetics
Citation: L. Marazita, Mary et al., Meta-Analysis of 13 Genome Scans Reveals Multiple Cleft Lip/Palate Genes with Novel Loci on 9q21 and 2q32-35, American journal of human genetics , 75(2), 2004, pp. 161-173
Authors:
Weeks, Daniel E.
Conley, Yvette P.
Tsai, Hui-Ju
Mah, Tammy S.
Schmidt, Silke
Poste, Eric A.
Agarwal, Anita
Haines, Jonathan L.
Pericak-Vance, Margaret A.
Rosenfeld, Philip J.
Paul, T. Otis
Eller, Andrew W.
Morse, Lawrence S.
Dailey, J.P.
Ferrell, Robert E.
Gorin, Michael B.
Journal: American journal of human genetics
Citation: E. Weeks, Daniel et al., Age-Related Maculopathy: A Genomewide Scan with Continued Evidence of Susceptibility Loci within the 1q31, 10q26, and 17q25 Regions, American journal of human genetics , 75(2), 2004, pp. 174-189
Authors:
Kamatani, Naoyuki
Sekine, Akihiro
Kitamoto, Takuya
Iida, Aritoshi
Saito, Susumu
Kogame, Akifumi
Inoue, Eisuke
Kawamoto, Manabu
Harigai, Masayoshi
Nakamura, Yusuke
Journal: American journal of human genetics
Citation: Kamatani, Naoyuki et al., Large-Scale Single-Nucleotide Polymorphism (SNP) and Haplotype Analyses, Using Dense SNP Maps, of 199 Drug-Related Genes in 752 Subjects: the Analysis of the Association between Uncommon SNPs within Haplotype Blocks and the Haplotypes Constructed with Haplotype-Tagging SNPs, American journal of human genetics , 75(2), 2004, pp. 190-203
Authors:
Wen, Gen
Mahata, Sushil K.
Cadman, Peter
Mahata, Manjula
Ghosh, Sajalendu
Mahapatra, Nitish R.
Rao, Fangwen
Stridsberg, Mats
Smith, Douglas W.
Mahboubi, Payam
Schork, Nicholas J.
O'Connor, Daniel T.
Hamilton, Bruce A.
Journal: American journal of human genetics
Citation: Wen, Gen et al., Both Rare and Common Polymorphisms Contribute Functional Variation at CHGA, a Regulator of Catecholamine Physiology, American journal of human genetics , 74(2), 2004, pp. 197-207
Authors:
Fallin, M. Daniele
Lasseter, Virginia K.
Wolyniec, Paula S.
McGranth, John A.
Nestadt, Gerald
Valle, David
Liang, Kung-Yee
Pulver, Ann E.
Journal: American journal of human genetics
Citation: Fallin, M. Daniele et al., Genomewide Linkage Scan for Bipolar-Disorder Susceptibility Loci among Ashkenazi Jewish Families, American journal of human genetics , 75(2), 2004, pp. 204-219