Results : 1-25/126
Authors:
Tang, Hua
Coram, Marc
Wang, Pei
Zhu, Xiaofeng
Risch, Neil
Journal: American journal of human genetics
Citation: Tang, Hua et al., Reconstructing Genetic Ancestry Blocks in Admixed Individuals, American journal of human genetics , 79(1), 2006, pp. 1-12
Authors:
Gouya, Laurent
Martin-Schmitt, Caroline
Robreau, Anne-Marie
Austerlitz, Frédéric
Da Silva, Vasco
Brun, Patrick
Simonin, Sylvie
Lyoumi, Saïd
Grandchamp, Bernard
Beaumont, Carole
Puy, Hervé
Deybach, Jean-Charles
Journal: American journal of human genetics
Citation: Gouya, Laurent et al., Contribution of a Common Single-Nucleotide Polymorphism to the Genetic Predisposition for Erythropoietic Protoporphyria, American journal of human genetics , 78(1), 2006, pp. 2-14
Authors:
Ionita, Iulianita
Daruwala, Raoul-Sam
Mishra, Bud
Journal: American journal of human genetics
Citation: Ionita, Iulianita et al., Mapping Tumor-Suppressor Genes with Multipoint Statistics from Copy-Number.Variation Data, American journal of human genetics , 79(1), 2006, pp. 13-22
Authors:
Millstein, Joshua
Conti, David V.
Gilliland, Frank D.
Gauderman, W. James
Journal: American journal of human genetics
Citation: Millstein, Joshua et al., A Testing Framework for Identifying Susceptibility Genes in the Presence of Epistasis, American journal of human genetics , 78(1), 2006, pp. 15-27
Authors:
Sarquis, Marta S.
Agrawal, Shipra
Shen, Lei
Pilarski, Robert
Zhou, Xiao-Ping
Eng, Charis
Journal: American journal of human genetics
Citation: S. Sarquis, Marta et al., Distinct Expression Profiles for PTEN Transcript and Its Splice Variants in Cowden Syndrome and Bannayan-Riley-Ruvalcaba Syndrome, American journal of human genetics , 79(1), 2006, pp. 23-30
Authors:
Sparrow D. B.
Chapman, G.
Wouters, M.A
Whittock, N. V.
Ellard, S.
Fatkin, D.
Turnpenny, P.D.
Kusumi, K.
Sillence, D.
Dunwoodie, S.L.
Journal: American journal of human genetics
Citation: B. Sparrow D. et al., Mutation of the LUNATIC FRINGE Gene in Humans Causes Spondylocostal Dysostosis with a Severe Vertebral Phenotype, American journal of human genetics , 78(1), 2006, pp. 28-37
Authors:
Spada, Marco
Pagliardini, Severo
Yasuda, Makiko
Tukel, Turgut
Thiagarajan, Geetha
Sakuraba, Hitoshi
Ponzone, Alberto
Desnick, Robert J
Journal: American journal of human genetics
Citation: Spada, Marco et al., High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening, American journal of human genetics , 79(1), 2006, pp. 31-40
Authors:
Jaeken, Jaak
Martens Kevin
François, Inge
Eyskens, François
Lecointre, Claudine
Derua, Rita
Meulemans, Sandra
Slootstra, Jerry W.
Waelkens, Etienne
De Zegher, Francis
Creemers, Jhon W.M.
Matthijs, Gert
Journal: American journal of human genetics
Citation: Jaeken, Jaak et al., Deletion of PREPL, a Gene Encoding a Putative Serine Oligopeptidase, in Patients with Hypotonia-Cystinuria Syndrome, American journal of human genetics , 78(1), 2006, pp. 38-51
Authors:
K. Sen, Shurjo
Han, Kyudong
Wang, Jianxin
Lee, Jungnam
Wang, Hui
Callinan, Pauline A.
Dyer, Matthew
Cordaux, Richard
Liang, Ping
Batzer, Mark A.
Journal: American journal of human genetics
Citation: K. Sen, Shurjo et al., Human Genomic Deletions Mediated by Recombination between Alu Elements, American journal of human genetics , 79(1), 2006, pp. 41-53
Authors:
Schumacher, Johannes
Anthoni, Heidi
Dahdouh, Faten
König, Inke R.
Hillmer, Axel M.
Kluck, Nadine
Manthey, Malou
Plume, Ellen
Warnke, Andreas
Remschmidt, Helmut
Hülsmann, Jutta
Cichon, Sven
Lindgren, Cecilia M.
Propping, Peter
Zucchelli, Marco
Ziegler, Andreas
Peyrard-Janvid, Myriam
Schulte-Körne, Gerd
Nöthen, Markus M.
Kere, Juha
Journal: American journal of human genetics
Citation: Schumacher, Johannes et al., Strong Genetic Evidence of DCDC2 as a Susceptibility Gene for Dyslexia, American journal of human genetics , 78(1), 2006, pp. 52-62
Authors:
Saxena, Richa
De Bakker, Paul I.W.
Singer, Karyn
Mootha, Vamsi
Burtt, Noël
Hirschhorn, Joel N.
Gaudet, Daniel
Isomaa, Bo
Daly, Mark J.
Groop, Leif
Ardlie, Krstin G.
Altshuler, David
Journal: American journal of human genetics
Citation: Saxena, Richa et al., Comprehensive Association Testing of Common Mitochondrial DNA Variation in Metabolic Disease, American journal of human genetics , 79(1), 2006, pp. 54-61
Authors:
Leutenegger, Anne-Louise
Labalme, Audrey
Génin, Emmanuelle
Toutain, Annick
Steichen, Elisabeth
Clerget-Darpoux, Françoise
Edery, Patrick
Journal: American journal of human genetics
Citation: Leutenegger, Anne-louise et al., Using Genomic Inbreeding Coefficient Estimates for Homozygosity Mapping of Rare Recessive Traits: Application to Taybi-Linder Syndrome, American journal of human genetics , 79(1), 2006, pp. 62-66
Authors:
Cartegni, Luca
Hastings, Michelle L.
Calarco, John A.
De Stanchina, Elisa
Krainer, Adrian R.
Journal: American journal of human genetics
Citation: Cartegni, Luca et al., Determinants of Exon 7 Splicing in the Spinal Muscular Atrophy Genes, SMN1 and SMN2, American journal of human genetics , 78(1), 2006, pp. 63-77
Authors:
Flanagan, James M.
Popendikyte, Violeta
Pozdniakovaite, Natalija
Sobolev, Martha
Assadzadeh, Abbas
Schumacher, Axel
Zangeneh, Masood
Lau, Lynette
Virtanen, Carl
Wang, Sun-Chong
Petronis, Arturas
Journal: American journal of human genetics
Citation: M. Flanagan, James et al., Intra- and Interindividual Epigenetic Variation in Human Germ Cells, American journal of human genetics , 79(1), 2006, pp. 67-84
Authors:
Grupe, Andrew
Li, Yonghong
Rowland, Charles
Nowotny, Petra
Hinrichs, Anthony L.
Smemo, Scott
Kauwe, Jhon S. K.
Maxwell, Taylor J.
Cherny, Sara
Doil, Lisa
Tacey, Kristina
Van Luchene, Ryan
Myers, Amanda
Wavrant-De Vrièze, Fabienne
Kaleem, Mona
Hollingworth, Paul
Jehu, Luke
Foy, Catherine
Archer, Nicola
Hamilton, Gillian
Goate, Alison
Journal: American journal of human genetics
Citation: Grupe, Andrew et al., A Scan of Chromosome 10 Identifies a Novel Locus Showing Strong Association with Late-Onset Alzheimer Disease, American journal of human genetics , 78(1), 2006, pp. 78-88
Authors:
Anttila, V.
Kallela, M.
Oswell, G.
Kaunisto, M.A.
Nyholt, D.R.
Hämäläinen, E.
Havanka, H.
Ilmavirta, M.
Terwillinger, J.
Sobel, E.
Peltonen, L.
Kaprio, J.
Färkkilä, M.
Wessman, M.
Palotie, A.
Journal: American journal of human genetics
Citation: V. Anttila, et al., Trait Components Provide Tools to Dissect the Genetic Susceptibility of Migraine, American journal of human genetics , 79(1), 2006, pp. 85-99
Authors:
Openo, Kimberly K.
Schulz, Jenny M.
Vargas, Claudia A.
Orton, Corey S.
Epstein, Michael P.
Schnur, Rhonda E.
Scaglia, Fernando
Berry, Gerard T.
Gottesman, Gary S.
Ficicioglu, Can
Slonim, Alfred E.
Schroer, Richard J.
Yu, Chunli
Rangel, Vanessa E.
Keenan, Jennifer
Lamance, Kerri
Fridovich-Keil, Judith L.
Journal: American journal of human genetics
Citation: K. Openo, Kimberly et al., Epimerase-Deficiency Galactosemia Is Not a Binary Condition, American journal of human genetics , 78(1), 2006, pp. 89-102
Authors:
Verzilli, Claudio J.
Stallard, Nigel
Whittaker, John C.
Journal: American journal of human genetics
Citation: J. Verzilli, Claudio et al., Bayesian Graphical Models for Genomewide Association Studies, American journal of human genetics , 79(1), 2006, pp. 100-112
Authors:
Hinrichs, Anthony L.
Wang, Jen C.
Bufe, Bernd
Kwon, Jennifer M.
Budde, Jhon
Allen, Rebecca
Bertelsen, Sarah
Evans, Whitney
Dick, Danielle
Rice, Jhon
Foroud, Tatiana
Nurnberger, John
Tischfield, Jay A.
Kuperman, Samuel
Crowe, Raymond
Hesselbrock, Victor
Schuckit, Marc
Almasy, Laura
Porjesz, Bernice
Edenberg, Howard J.
Goate, Alison M.
Journal: American journal of human genetics
Citation: L. Hinrichs, Anthony et al., Functional Variant in a Bitter-Taste Receptor (hTAS2R16) Influences Risk of Alcohol Dependence, American journal of human genetics , 78(1), 2006, pp. 103-111
Authors:
Ferdinandusse, Sacha
Ylianttila, Mari S.
Gloerich, Jolein
Koski, M. Kristian
Oostheim, Wendy
Waterham, Hans R.
Hiltunen, J. Kalervo
Wanders, Ronald J.A.
Glumoff, Tuomo
Journal: American journal of human genetics
Citation: Ferdinandusse, Sacha et al., Mutational Spectrum of d-Bifunctional Protein Deficiency and Structure-Based Genotype-Phenotype Analysis, American journal of human genetics , 78(1), 2006, pp. 112-124
Authors:
Lacombe, Arnaud
Lee, Hane
Zahed, Laila
Choucair, Mahmoud
Muller, Jean-Marc
Nelson, Stanley F.
Salameh, Wael
Vilain, Eric
Journal: American journal of human genetics
Citation: Lacombe, Arnaud et al., Disruption of POF1B Binding to Nonmuscle Actin Filaments Is Associated with Premature Ovarian Failure, American journal of human genetics , 79(1), 2006, pp. 113-119
Authors:
Modi, William S.
Lautenberger, James
An, Ping
Scott, Kevin
Goedert, James J.
Kirk, Gregory D.
Buchbinder, Susan
Phair, Jhon
Donfield, Sharyne
O.Brien, Stephen J.
Winkler, Cheryl
Journal: American journal of human genetics
Citation: S. Modi, William et al., Genetic Variation in the CCL18-CCL3-CCL4 Chemokine Gene Cluster Influences HIV Type 1 Transmission and AIDS Disease Progression, American journal of human genetics , 79(1), 2006, pp. 120-128
Authors:
Bergwitz, Clemens
Roslin, Nicole M.
Tieder, Martin
Loredo-Osti, J.C
Bastepe, Murat
Abu-Zahra, Halilas
Frappier, Danielle
Burkett, Kelly
Carpenter, Thomas O.
Anderson, Donald
Garabédian, Michèle
Sermet, Isabelle
Fujiwara, T.Mary
Morgan, Kenneth
Tenenhouse, Harriet S.
Jüppner, Harald
Journal: American journal of human genetics
Citation: Bergwitz, Clemens et al., SLC34A3 Mutations in Patients with Hereditary Hypophosphatemic Rickets with Hypercalciuria Predict a Key Role for the Sodium-Phosphate Cotransporter NaPi-IIc in Maintaining Phosphate Homeostasis, American journal of human genetics , 78(2), 2006, pp. 179-192
Authors:
Lorenz-Depiereux, Bettina
Benet-Pages, Anna
Eckstein, Gertrud
Tenenbaum-Rakover, Yardena
Wagenstaller, Janine
Tiosano, Dov
Gershoni-Baruch, Ruth
Alberts, Norbert
Lichtner, Peter
Schnabel, Dirk
Hochberg, Ze'ev
Strom, Tim M.
Journal: American journal of human genetics
Citation: Lorenz-depiereux, Bettina et al., Hereditary Hypophosphatemic Rickets with Hypercalciuria Is Caused by Mutations in the Sodium-Phosphate Cotransporter Gene SLC34A3, American journal of human genetics , 78(2), 2006, pp. 193-201
Authors:
Der Perng, Ming
Su, Mu
Wen, Shu Fang
Li, Rong
Gibbon, Terry
Prescott, Alan R.
Brenner, Michael
Quinlan, Roy A.
Journal: American journal of human genetics
Citation: Der Perng, Ming et al., The Alexander Disease.Causing Glial Fibrillary Acidic Protein Mutant, R416W, Accumulates into Rosenthal Fibers by a Pathway That Involves Filament Aggregation and the Association of .B-Crystallin and HSP27, American journal of human genetics , 79(2), 2006, pp. 197-213