Results : 26-50/181
Authors:
DeBaun, Michael R.
Niemitz, Emily L.
Feinberg, Andrew P.
Journal: American journal of human genetics
Citation: R. Debaun, Michael et al., Association of In Vitro Fertilization with Beckwith-Wiedemann Syndrome and Epigenetic Alterations of LIT1 and H19, American journal of human genetics , 72(1), 2003, pp. 156-160
Authors:
Yasuda, Makiko
Shabbeer, Junidad
Osawa, Makiko
Desnick, Robert J.
Journal: American journal of human genetics
Citation: Yasuda, Makiko et al., Fabry Disease: Novel .-Galactosidase A 3.-Terminal Mutations Result in Multiple Transcripts Due to Aberrant 3.-End Formation, American journal of human genetics , 73(1), 2003, pp. 162-173
Authors:
Siegel, Dawn H.
Ashton, Gabrielle H.S.
Penagos, Homero G.
Lee, James V.
Feiler, Heidi S.
Wilhelmsen, Kirk C.
South, Andrew P.
Smith, Frances J.D.
Prescott, Alan R.
Wessagowit, Vesarat
Oyama, Noritaka
Akiyama, Masashi
Al Aboud, Daifullah
Al Aboud, Khalid
Al Githami, Ahmad
Al Hawsawi, Khalid
Al Ismaily, Abla
Al-Suwaid, Raouf
Atherton, David J.
Caputo, Ruggero
Fine, Jo-David
Frieden, Ilona J.
Fuchs, Elaine
Haber, Richard M.
Harada, Takashi
Kitajima, Yasuo
Mallory, Susan B.
Ogawa, Hideoki
Sahin, Sedef
Shimizu, Hiroshi
Suga, Yasushi
Tadini, Gianluca
Tsuchiya, Kikuo
Wiebe, Colin B.
Wojnarowska, Fenella
Zaghloul, Adel B.
Hamada, Takahiro
Mallipeddi, Rajeev
Eady, Robin A.J.
Irwin McLean, W.H.
McGrath, John A.
Epstein, Ervin H. , Jr.
Journal: American journal of human genetics
Citation: H. Siegel, Dawn et al., Loss of Kindlin-1, a Human Homolog of the Caenorhabditis elegans Actin.Extracellular-Matrix Linker Protein UNC-112, Causes Kindler Syndrome, American journal of human genetics , 73(1), 2003, pp. 174-187
Authors:
Housworth, E.A.
Stahl, F.W.
Journal: American journal of human genetics
Citation: Housworth, E.a et Stahl, F.w, Crossover Interference in Humans, American journal of human genetics , 73(1), 2003, pp. 188-197
Authors:
Vieland, Veronica J.
Huang, Jian
Journal: American journal of human genetics
Citation: J. Vieland, Veronica et Huang, Jian, Two-Locus Heterogeneity Cannot Be Distinguished from Two-Locus Epistasis on the Basis of Affected-Sib-Pair Data, American journal of human genetics , 73(2), 2003, pp. 223-232
Authors:
Matsimoto, Naomi
Tamura, Shigehiko
Furuki, Satomi
Miyata, Non
Moser, Ann
Shimozawa, Nobuyuki
Moser, Hugo W.
Suzuki, Yasuyuki
Kondo, Naomi
Fujiki, Yukio
Journal: American journal of human genetics
Citation: Matsimoto, Naomi et al., Mutations in Novel Peroxin Gene PEX26 That Cause Peroxisome-Biogenesis Disorders of Complementation Group 8 Provide a Genotype-Phenotype Correlation, American journal of human genetics , 73(2), 2003, pp. 233-246
Authors:
Keyser-Tracqui, Christine
Crubézy, Eric
Ludes, Bertrand
Journal: American journal of human genetics
Citation: Keyser-tracqui, Christine et al., Nuclear and Mitochondrial DNA Analysis of a 2,000-Year-Old Necropolis in the Egyin Gol Valley of Mongolia, American journal of human genetics , 73(2), 2003, pp. 247-260
Authors:
Richter, Suzanne
Vandaze, Kirk
Chen, Ning
Zhang, Katherine
Sutherland, Joanne
Anderson, Julie
Han, Liping
Panton, Rachel
Branco, Patricia
Gallie, Brenda
Journal: American journal of human genetics
Citation: Richter, Suzanne et al., Sensitive and Efficient Detection of RB1 Gene Mutations Enhances Care for Families with Retinoblastoma, American journal of human genetics , 72(2), 2003, pp. 253-269
Authors:
Pal, Deb K.
Evgrafov, Oleg V.
Tabares, Paula
Zhang, Fengli
Durner, Martina
Greenberg, David A.
Journal: American journal of human genetics
Citation: K. Pal, Deb et al., BRD2 (RING3) Is a Probable Major Susceptibility Gene for Common Juvenile Myoclonic Epilepsy, American journal of human genetics , 73(2), 2003, pp. 261-270
Authors:
Dong, Xiangyang
Wang, Liang
Taniguchi, Ken
Wang, Xianshu
Cunningham, Julie M.
McDonnell, Shannon K.
Qian, Chiping
Marks, Angela F.
Slager, Susan L.
Peterson, Brett J.
Smith, David I.
Cheville, John C.
Blute, Michael L.
jacobsen, Steve J.
Schaid, Daniel J.
Tindall, Donald J.
Thibodeau, Stephen N.
Liu, Wanguo
Journal: American journal of human genetics
Citation: Dong, Xiangyang et al., Mutations in CHEK2 Associated with Prostate Cancer Risk, American journal of human genetics , 72(2), 2003, pp. 270-280
Authors:
Matise, Tara C.
Sachidanandam, Ravi
Clark, Andrew G.
Kruglyak, Leonid
Wijsman, Ellen
Kakol, Jerzy
Buyske, Steben
Chui, Buena
Cohen, Patrick
de Toma, Claudia
Ehm, Margaret
Glanowski, Stephen
He, Chunsheng
Heil, Jeremy
Markianos, Kyriacos
McMullen, Ivy
Pericak-Vance, Margaret A.
Sibergleit, Arkadiy
Stein, Lincoln
Wagner, Magnus
Wilson, Alexander F.
Winick, Jeffrey D.
Winn-Deen, Emily S.
Yamashiro, Carl T.
Cann, Howard M.
Lai, Eric
Holden, Arthur L.
Journal: American journal of human genetics
Citation: C. Matise, Tara et al., A 3.9-Centimorgan-Resolution Human Single-Nucleotide Polymorphism Linkage Map and Screening Set, American journal of human genetics , 73(2), 2003, pp. 271-284
Reduced Y-Chromosome, but Not Mitochondrial DNA, Diversity in Human Populations from West New Guinea
Authors:
Kayser, Manfred
Brauer, Silke
Weiss, Gunter
Schiefenhövel, Wulf
Underhill, Peter
Shen, Peidong
Oefner, Peter
Tommaseo-Ponzetta, Mila
Stoneking, Mark
Journal: American journal of human genetics
Citation: Kayser, Manfred et al., Reduced Y-Chromosome, but Not Mitochondrial DNA, Diversity in Human Populations from West New Guinea, American journal of human genetics , 72(2), 2003, pp. 281-302
Authors:
Clark, Andrew G.
Nielsen, Rasmus
Signorovitch, James
Matise, Tara C.
Glanowski, Stephen
Heil, Jeremy
Winn-Deen, Emily S.
Holden, Arthur L.
Lai, Eric
Journal: American journal of human genetics
Citation: G. Clark, Andrew et al., Linkage Disequilibrium and Inference of Ancestral Recombination in 538 Single-Nucleotide Polymorphism Clusters across the Human Genome, American journal of human genetics , 73(2), 2003, pp. 285-300
Authors:
Gillanders, Elizabeth
Hank Juo, Suh-Hang
Holland, ELizabeth A.
Jones, MaryPat
Nancarrow, Derek
Freas-Lutz, Diana
Sood, Raman
Park, Naeun
Faruque, Mezbah
Markey, Carol
Kefford, Richard F.
Palmer, Jane
Bergman, Wilma
Bishop, D. Timothy
Tucker, Margaret A.
Bressac-de Paillerets, Brigitte
Hansson, Johan
The Lund Melanoma Study Group
Stark, Mitchell
Gruis, Nelleke
Newton Bishop, Julia
Goldstein, Alisa M.
Bailey-Wilson, Joan E.
Mann, Graham J.
Hayward, Nicholas
Trent, Jeffrey
The Melanoma Genetics Consortium
Journal: American journal of human genetics
Citation: Gillanders, Elizabeth et al., Localization of a Novel Melanoma Susceptibility Locus to 1p22, American journal of human genetics , 73(2), 2003, pp. 301-313
Authors:
Okamoto, Koichi
Makino, Satoshi
Yoshikawa, Yoko
Takaki, Asumi
Nagatsuka, Yumie
Ota, Masao
Tamiya, Gen
Kimura, Akinori
Bahram, Seiamak
Inoko, Hidetoshi
Journal: American journal of human genetics
Citation: Okamoto, Koichi et al., Identification of I.BL as the Second Major Histocompatibility Complex.Linked Susceptibility Locus for Rheumatoid Arthritis, American journal of human genetics , 72(2), 2003, pp. 303-312
Authors:
Kiv isild, T.
Rootsi, S.
Metspalu, M.
Mastana, S.
Kaldma, K.
Parik, J.
Metspalu, E.
Adojaan, M.
Tolk, H.-V.
Stepanov, V.
Gölge, M.
Usanga, E.
Papiha, S.S.
Cinnio.lu, C.
King, R.
Cavalli-Sforza, L.
Underhill, P.A.
Villems, R.
Journal: American journal of human genetics
Citation: T. Kiv Isild, et al., The Genetic Heritage of the Earliest Settlers Persists Both in Indian Tribal and Caste Populations, American journal of human genetics , 72(2), 2003, pp. 313-332
Authors:
de Beur, Suzanne Jan
Ding, Changlin
Germain-Lee, Emily
Cho, Justin
Maret, Alexander
Levine, Michael A.
Journal: American journal of human genetics
Citation: De Beur, Suzanne Jan et al., Discordance between Genetic and Epigenetic Defects in Pseudohypoparathyroidism Type 1b Revealed by Inconsistent Loss of Maternal Imprinting at GNAS1, American journal of human genetics , 73(2), 2003, pp. 314-322
Authors:
Reynisdottir, Inga
Thorleifsson, Gudmar
Benediktsson, Rafn
Sigurdsson, Gunnar
Emilsson, Valur
Einarsdottir, Anna Sigurlin
Hjorleifsdottir, Eyrun Edda
Orlygsdottir, Gudbjorg Th.
Bjornsdottir, Gudrun Thora
Saemundsdottir, Steinunn Bjorg
Steinsdottir, Svana
Martin, Mitchell
Kochan, Jarema P.
Rhees, Brian K.
Grant, Struan F.A.
Frigge, Michael L.
Kong, Augustine
Gudnasson, VIldmundur
Stefansson, Kari
Gulcher, Jeffrey R.
Halldorsson, Skarphedinn
Hrafnkelsdottir, Soffia
Sigurjonsdottir, Steinunn Bjorg
Journal: American journal of human genetics
Citation: Reynisdottir, Inga et al., Localization of a Susceptibility Gene for Type 2 Diabetes to Chromosome 5q34.q35.2, American journal of human genetics , 73(2), 2003, pp. 323-335
Authors:
Man, P.Y.W.
Griffiths, P.G.
Brown, D.T.
Howell, N.
Tunbull, D.M.
Chinnery, P.F.
Journal: American journal of human genetics
Citation: Man, P.y.w et al., The Epidemiology of Leber Hereditary Optic Neuropathy in the North East of England, American journal of human genetics , 72(2), 2003, pp. 333-339
Authors:
Anderson, Eric C.
Novembre, John
Journal: American journal of human genetics
Citation: C. Anderson, Eric et Novembre, John, Finding Haplotype Block Boundaries by Using the Minimum-Description-Length Principle, American journal of human genetics , 73(2), 2003, pp. 336-354
Authors:
Palmer, Lyle J.
Baxbaum, Sarah G.
Larkin, Emma
Patel, Sanjay R.
Elston, Robert C.
Tishler, Peter V.
Redline, Susan
Journal: American journal of human genetics
Citation: J. Palmer, Lyle et al., A Whole-Genome Scan for Obstructive Sleep Apnea and Obesity, American journal of human genetics , 72(2), 2003, pp. 340-350
Authors:
Conti, David V.
Witte, John S.
Journal: American journal of human genetics
Citation: V. Conti, David et S. Witte, John, Hierarchical Modeling of Linkage Disequilibrum: Genetic Structure and Spatial Relations, American journal of human genetics , 72(2), 2003, pp. 351-363
Authors:
Pan, Te-Cheng
Zhang, Rui-Zhu
Sudano, Dominick G.
Marie, Suely K.
Bönnemann, Carsten G.
Chu, Mon-Li
Journal: American journal of human genetics
Citation: Pan, Te-cheng et al., New Molecular Mechanism for Ullrich Congenital Muscular Dystrophy: A Heterozygous In-Frame Deletion in the COL6A1 Gene Causes a Severe Phenotype, American journal of human genetics , 73(2), 2003, pp. 355-369
Authors:
Omi, Kazuya
Ohashi, Jun
Patarapotikul, Jintana
Hananantachai, Hathairad
Naka, Izumi
Looareesuwan, Sornchai
Tokunaga, Katsushi
Journal: American journal of human genetics
Citation: Omi, Kazuya et al., CD36 Polymorphism Is Associated with Protection from Cerebral Malaria, American journal of human genetics , 72(2), 2003, pp. 364-374
Authors:
Knappskog, Per M.
Majewski, Jacek
Livneh, Avi
Nilsen, Per Torgeir E.
Bringsli, Jorunn S.
Ott, Jürg
Boman, Helge
Journal: American journal of human genetics
Citation: M. Knappskog, Per et al., Cold-Induced Sweating Syndrome Is Caused by Mutations in the CRLF1 Gene, American journal of human genetics , 72(2), 2003, pp. 375-383