Results : 76-100/119
Authors:
Pasmooji, Anna M.G.
Pas, Hendri H.
Deviaene, Franciska C.L.
Nijenhuis, Miranda
Jonkman, Marcel F.
Journal: American journal of human genetics
Citation: Pasmooji, Anna M.g et al., Multiple Correcting COL17A1 Mutations in Patients with Revertant Mosaicism of Epidermolysis Bullosa, American journal of human genetics , 77(5), 2005, pp. 727-740
Authors:
Huang, Ningwu
Pandey, Amit V.
Agrawal, Vishal
Reardon, William
Lapunzina, Pablo D.
Mowat, David
Wang Jabs, Ethylin
Van Vliet, Guy
Sack, Joseph
Flück, Christa E.
Miller, Walter L.
Journal: American journal of human genetics
Citation: Huang, Ningwu et al., Diversity and Function of Mutations in P450 Oxidoreductase in Patients with Antley-Bixler Syndrome and Disordered Steroidogenesis, American journal of human genetics , 76(5), 2005, pp. 729-749
Authors:
Ai, Minrong
Heeger, Shauna
Bartels, Cynthia F.
Schelling, Deborah K.
Osteoporosis-Pseudoglioma Collaborative Group
Journal: American journal of human genetics
Citation: Ai, Minrong et al., Clinical and Molecular Findings in Osteoporosis-Pseudoglioma Syndrome, American journal of human genetics , 77(5), 2005, pp. 741-753
Authors:
Dhami, Pawandeep
Coffey, Alison J.
Abbs, Stephen
Vermeesch, Joris R.
Dumanski, Jan P.
Woodward, Karen J.
Andrews, Robert M.
Langford, Cordelia
Vetrie, David
Journal: American journal of human genetics
Citation: Dhami, Pawandeep et al., Exon Array CGH: Detection of Copy-Number Changes at the Resolution of Individual Exons in the Human Genome, American journal of human genetics , 76(5), 2005, pp. 750-762
Authors:
Abecasis, Gonçalo R.
Wigginton, Janis E.
Journal: American journal of human genetics
Citation: R. Abecasis, Gonçalo et E. Wigginton, Janis, Handling Marker-Marker Linkage Disequilibrium: Pedigree Analysis with Clustered Markers, American journal of human genetics , 77(5), 2005, pp. 754-767
Authors:
Vitart, Veronique
Carothers, Andrew D.
Hayward, Caroline
Teague, Peter
Hastie, Nicholas D.
Campbell, Harry
Wright, Alan F.
Journal: American journal of human genetics
Citation: Vitart, Veronique et al., Increased Level of Linkage Disequilibrium in Rural Compared with Urban Communities: A Factor to Consider in Association-Study Design, American journal of human genetics , 76(5), 2005, pp. 763-772
Authors:
Wang, Kai
Sheffield, Val C.
Journal: American journal of human genetics
Citation: Wang, Kai et C. Sheffield, Val, A Constrained-Likelihood Approach to Marker-Trait Association Studies, American journal of human genetics , 77(5), 2005, pp. 768-780
Authors:
Vella, Adrian
Cooper, Jason D.
Lowe, Christopher E.
Walker, Neil
Nutland, Sarah
Widmer, Barry
Jones, RIchard
Ring, Susan M.
McArdle, Wendy
Pembrey, Marcus E.
Strachan, David P.
Dunger, David B.
Twells, C.J. Rebecca
Clayton, David G.
Todd, John A.
Journal: American journal of human genetics
Citation: Vella, Adrian et al., Localization of a Type 1 Diabetes Locus in the IL2RA/CD25 Region by Use of Tag Single-Nucleotide Polymorphisms, American journal of human genetics , 76(5), 2005, pp. 773-779
Authors:
Schaid, Daniel J.
McDonnell, Shannon K.
Hebbring, Scott J.
Cunningham, Julie M.
Thibodeau, Stephen N.
Journal: American journal of human genetics
Citation: J. Schaid, Daniel et al., Nonparametric Tests of Association of Multiple Genes with Human Disease, American journal of human genetics , 76(5), 2005, pp. 780-793
Authors:
Fearnhead, Paul
Smith, Nick G.C.
Journal: American journal of human genetics
Citation: Fearnhead, Paul et Smith, Nick G.c, A Novel Method with Improved Power To Detect Recombination Hotspots from Polymorphism Data Reveals Multiple Hotspots in Human Genes, American journal of human genetics , 77(5), 2005, pp. 781-794
Authors:
Kelsell, P. David
Norgett, E. Elizabeth
Unsworth, Harriet
Teh, Muy-Teck
Cullup, Thomas
Mein, Charles A.
Dopping-Hepenstal, J. Patricia
Dale, A. Beverly
Tadini, Gianluca
Fleckman, Philip
Stephens, G. Karen
Sybert, P. Virginia
Mallory, B. Susan
North, Bernard V.
Witt, David R.
Sprecher, Elii
Taylor, Aileen E.M.
Ilchyshyn, Andrew
Kennedy, Cameron T.
Goodyear, Helen
Moss, Celia
Paige, David
Harper, John I.
Young, Brian D.
Leigh, Irene M.
Eady, Robin A.J.
O'Toole, Edel A.
Journal: American journal of human genetics
Citation: Kelsell, P. David et al., Mutations in ABCA12 Underlie the Severe Congenital Skin Disease Harlequin Ichthyosis, American journal of human genetics , 76(5), 2005, pp. 794-803
Authors:
Thiel, Christian T.
Horn, Denise
Zabel, Bernhard
Ekici, Arif B.
Salinas, Kelly
Gebhart, Erich
Rüschendorf, Franz
Spranger, Jürgen
Müller, Dietmar
Zweier, Christiane
Schmitt, Mark E.
Reis, André
Rauch, Anita
Journal: American journal of human genetics
Citation: T. Thiel, Christian et al., Severely Incapacitating Mutations in Patients with Extreme Short Stature Identify RNA-Processing Endoribonuclease RMRP as an Essential Cell Growth Regulator, American journal of human genetics , 77(5), 2005, pp. 795-806
Authors:
Linglart, Agnès
Gensure, Robert C.
Olney, Robert C.
Jüppner, Harald
Bastepe, Murat
Journal: American journal of human genetics
Citation: Linglart, Agnès et al., A Novel STX16 Deletion in Autosomal Dominant Pseudohypoparathyroidism Type Ib Redefines the Boundaries of a cis-Acting Imprinting Control Element of GNAS, American journal of human genetics , 76(5), 2005, pp. 804-814
Authors:
Fang, Yue
van Meurs, Joyce B.J.
d'Alesio, Arnold
Jhamai, Mila
Zhao, Hongyan
Rivadeneira, Fernando
Hofman, Albert
van Leeuwen, Johannes P.T.
Jehan, Frédéric
Pols, Huibert A.P.
Uitterlinden, André G.
Journal: American journal of human genetics
Citation: Fang, Yue et al., Promoter and 3.-Untranslated-Region Haplotypes in the Vitamin D Receptor Gene Predispose to Osteoporotic Fracture: The Rotterdam Study, American journal of human genetics , 77(5), 2005, pp. 807-823
Authors:
Hamet, P.
Merlo, E.
.eda, O.
Broeckel, U.
Tremblay, J.
Kaldunski, M:
Gaudet, D.
Bouchard, G.
Deslauriers, B.
Gagnon, F.
Antoniol, G.
Pausovà, Z.
Labuda, M.
Jomphe, M.
Gossard, F.
Tremblay, G.
Kirova, R.
Tonnellato, P.
Orlov, S.N.
Pintos, J.
Platko, J.
Hudson, T.J.
Rioux, J.D.
Kotchen, T.A.
Cowley, A.W., Jr.
Journal: American journal of human genetics
Citation: P. Hamet, et al., Quantitative Founder-Effect Analysis of French Canadian Families Identifies Specific Loci Contributing to Metabolic Phenotypes of Hypertension, American journal of human genetics , 76(5), 2005, pp. 815-832
Authors:
Jackson, Michael S.
Oliver, Karen
Loveland, Jane
Humphray, Sean
Dunham, Ian
Rocchi, Mario
Viggiano, Luigi
Park, Jonathan P.
Hurles, Matthew E.
Santibanez-Koref, Mauro
Journal: American journal of human genetics
Citation: S. Jackson, Michael et al., Evidence for Widespread Reticulate Evolution within Human Duplicons, American journal of human genetics , 77(5), 2005, pp. 824-840
Authors:
Woods, Kathryn S.
Cundall, MAria
Turton, James
Rizotti, Karine
Mehta, Ameeta
Palmer, Rodger
Wong, Jaqueline
Chong, W.K.
Al-Zyoud, Mahmoud
El-Ali, Maryam
Otonkoski, Timo
Martinez-Barbera, Juan-Pedro
Thomas, Paul Q.
RObinson, Iain C.
Lovell-Badge, Robin
Woodward, Karen J.
Dattani, Mehul T.
Journal: American journal of human genetics
Citation: S. Woods, Kathryn et al., Over- and Underdosage of SOX3 Is Associated with Infundibular Hypoplasia and Hypopituitarism, American journal of human genetics , 76(5), 2005, pp. 833-849
Authors:
Khajavi, Mehrdad
Inoue, Ken
Wiszniewski, Wojciech
Ohyama, Tomoko
Snipes, Jackson G.
Lupski, James R.
Journal: American journal of human genetics
Citation: Khajavi, Mehrdad et al., Curcumin Treatment Abrogates Endoplasmic Reticulum Retention and Aggregation-Induced Apoptosis Associated with Neuropathy-Causing Myelin Protein Zero.Truncating Mutants, American journal of human genetics , 77(5), 2005, pp. 841-850
Authors:
Benayed, Rym
Gharani, Neda
Rossman, Ian
Mancuso, Vincent
Lazar, Gloria
Kamdar, Silky
Bruse, Shannon E.
Tischfield, Samuel
Smith, Brett J.
Zimmerman, Raymond A.
DiCicco-Bloom, Emanuel
Brzustowicz, Linda M.
Millonig, James H.
Journal: American journal of human genetics
Citation: Benayed, Rym et al., Support for the Homeobox Transcription Factor Gene ENGRAILED 2 as an Autism Spectrum Disorder Susceptibility Locus, American journal of human genetics , 77(5), 2005, pp. 851-868
Authors:
Barreiro, Luis B.
Patin, Etienne
Neyrolles, Olivier
Cann, Howard M.
Gicquel, Brigitte
Quintana-Murci, Lluìs
Journal: American journal of human genetics
Citation: B. Barreiro, Luis et al., The Heritage of Pathogen Pressures and Ancient Demography in the Human Innate-Immunity CD209/CD209L Region, American journal of human genetics , 77(5), 2005, pp. 869-886
Authors:
Cassidy, Andrew J.
van Steensel, Maurice A.M.
Steijlen, Peter M.
van Geel, Michel
van der Velden, Jaap
Morley, Susan M.
Terrinoni, Alessandro
Melino, Gerry
Candi, Eleonora
McLean, Irwin W.H.
Journal: American journal of human genetics
Citation: J. Cassidy, Andrew et al., A Homozygous Missense Mutation in TGM5 Abolishes Epidermal Transglutaminase 5 Activity and Causes Acral Peeling Skin Syndrome, American journal of human genetics , 77(6), 2005, pp. 909-917
Authors:
Fallin, M. Daniele
Lasseter, Virginia K.
Avramopoulos, Dimitrios
Nicodemus, Kristin K.
Wolyniec, Paula S.
McGrath, John A.
Steel, Gary
Nestadt, Gerald
Liang, Kung-Yee
Huganir, Richard L.
Valle, David
Pulver, Ann E.
Journal: American journal of human genetics
Citation: Fallin, M. Daniele et al., Bipolar I Disorder and Schizophrenia: A 440.Single-Nucleotide Polymorphism Screen of 64 Candidate Genes among Ashkenazi Jewish Case-Parent Trios, American journal of human genetics , 77(6), 2005, pp. 918-936
Authors:
Souto, Juan Carlos
Blanco-Vaca, Francisco
Soria, José Manuel
Buil, Alfonso
Almasyy, Laura
Ordoñez-Llanos, Jordi
Martìn-Campos, Jesús Mª
Lathrop, Mark
Stone, William
Blangero, John
Fontcuberta, Jordi
Journal: American journal of human genetics
Citation: Souto, Juan Carlos et al., A Genomewide Exploration Suggests a New Candidate Gene at Chromosome 11q23 as the Major Determinant of Plasma Homocysteine Levels: Results from the GAIT Project, American journal of human genetics , 76(6), 2005, pp. 925-933
Authors:
Lii, Mingyao
Boehnke, Michael
Abecasis, Gonçalo
Journal: American journal of human genetics
Citation: Lii, Mingyao et al., Joint Modeling of Linkage and Association: Identifying SNPs Responsible for a Linkage Signal, American journal of human genetics , 76(6), 2005, pp. 934-949
Authors:
The Japanese Schizophrenia SIb-Pair Linkage Group (JSSLG)
Arinami, Tadao
Ohtsuki, Tsuyuka
Ishiguro, Hiroki
Ujike, Hiroshi
Tanaka, Yujii
Morita, Yukitaka
Mineta, Mari
Takeichi, Masashi
Yamada, Shigeto
Imamura, Akira
Ohara, Koichi
Shibuya, Haruo
Ohara, Kenshiro
Suzuki, Yasuo
Muratake, Tatsuyuki
Kaneko, Naoshi
Someya, Toshiyuki
Inada, Toshiya
Yoshikawa, Takeo
Toyota, Tomoko
Yamada, Kazuo
Kojima, Takuya
Takahashi, Sakae
Osamu, Ohmori
Shinkai, Takahiro
Nakamura, Michiko
Fukuzako, Hiroshi
Hashiguchi, Tomo
Niwa, Shin-ich
Ueno, Takuya
Tachikawa, Hirokazu
Hori, Takafumi
Asada, Takashi
Nanko, Shinichiro
Kunugi, Hiroshi
Hashimoto, Ryota
Ozaki, Norio
Iwata, Nakao
Harano, Mutsuo
Arai, Heii
Ohnuma, Tohru
Kusumi, Ichiro
Koyama, Tsukasa
Yoneda, Hiroshi
Fukumaki, Yasuyuki
Shibata, Hiroki
Kaneko, Sunao
Higuchi, Hisashi
Yasui-Furukori, Norio
Numachi, Yohtaro
Itokawa, Masanari
Okazaki, Yuji
Journal: American journal of human genetics
Citation: The Japanese Schizophrenia Sib-pair Linkage Group (jsslg) et al., Genomewide High-Density SNP Linkage Analysis of 236 Japanese Families Supports the Existence of Schizophrenia Susceptibility Loci on Chromosomes 1p, 14q, and 20p, American journal of human genetics , 77(6), 2005, pp. 937-944