Works matching IS 09646906 AND DT 2011 AND VI 20 AND IP 12

Results: 22

The eczema risk variant on chromosome 11q13 (rs7927894) in the population-based ALSPAC cohort: a novel susceptibility factor for asthma and hay fever.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 12, p. 2443, doi. 10.1093/hmg/ddr117

By:

Marenholz, Ingo;
Bauerfeind, Anja;
Esparza-Gordillo, Jorge;
Kerscher, Tamara;
Granell, Raquel;
Nickel, Renate;
Lau, Susanne;
Henderson, John;
Lee, Young-Ae

Publication type:

Article

Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 12, p. 2322, doi. 10.1093/hmg/ddr125

By:

Shen, Yiguo;
Lee, Hsien-Yang;
Rawson, Joel;
Ojha, Sunil;
Babbitt, Patricia;
Fu, Ying-Hui;
Ptáček, Louis J.

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 12, p. NP, doi. 10.1093/hmg/ddr183
Publication type:: Article

Copy number variations on chromosome 12q14 in patients with normal tension glaucoma.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 12, p. 2482, doi. 10.1093/hmg/ddr123

By:

Fingert, John H.;
Robin, Alan L.;
Stone, Jennifer L.;
Roos, Ben R.;
Davis, Lea K.;
Scheetz, Todd E.;
Bennett, Steve R.;
Wassink, Thomas H.;
Kwon, Young H.;
Alward, Wallace L.M.;
Mullins, Robert F.;
Sheffield, Val C.;
Stone, Edwin M.

Publication type:

Article

Common genetic variants associated with open-angle glaucoma.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 12, p. 2464, doi. 10.1093/hmg/ddr120

By:

Ramdas, Wishal D.;
van Koolwijk, Leonieke M.E.;
Lemij, Hans G.;
Pasutto, Francesca;
Cree, Angela J.;
Thorleifsson, Gudmar;
Janssen, Sarah F.;
Jacoline, ten Brink;
Amin, Najaf;
Rivadeneira, Fernando;
Wolfs, Roger C.W.;
Walters, G. Bragi;
Jonasson, Fridbert;
Weisschuh, Nicole;
Mardin, Christian Y.;
Gibson, Jane;
Zegers, Richard H.C.;
Hofman, Albert;
de Jong, Paulus T.V.M.;
Uitterlinden, André G.

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 12, p. NP, doi. 10.1093/hmg/ddr184
Publication type:: Article

Wild-type and A315T mutant TDP-43 exert differential neurotoxicity in a Drosophila model of ALS.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 12, p. 2308, doi. 10.1093/hmg/ddr124

By:

Estes, Patricia S.;
Boehringer, Ashley;
Zwick, Rebecca;
Tang, Jonathan E.;
Grigsby, Brianna;
Zarnescu, Daniela C.

Publication type:

Article

Mimicking a SURF1 allele reveals uncoupling of cytochrome c oxidase assembly from translational regulation in yeast.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 12, p. 2379, doi. 10.1093/hmg/ddr145

By:

Reinhold, Robert;
Bareth, Bettina;
Balleininger, Martina;
Wissel, Mirjam;
Rehling, Peter;
Mick, David U.

Publication type:

Article

Gene copy number reduction in the azoospermia factor c (AZFc) region and its effect on total motile sperm count.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 12, p. 2457, doi. 10.1093/hmg/ddr119

By:

Noordam, Michiel J.;
Westerveld, G. Henrike;
Hovingh, Suzanne E.;
van Daalen, Saskia K.M.;
Korver, Cindy M.;
van der Veen, Fulco;
van Pelt, Ans M.M.;
Repping, Sjoerd

Publication type:

Article

An autosomal locus that controls chromosome-wide replication timing and mono-allelic expression.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 12, p. 2366, doi. 10.1093/hmg/ddr138

By:

Stoffregen, Eric P.;
Donley, Nathan;
Stauffer, Daniel;
Smith, Leslie;
Thayer, Mathew J.

Publication type:

Article

Mitogen- and stress-activated protein kinase 1-induced neuroprotection in Huntington's disease: role on chromatin remodeling at the PGC-1-alpha promoter.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 12, p. 2422, doi. 10.1093/hmg/ddr148

By:

Martin, Elodie;
Betuing, Sandrine;
Pagès, Christiane;
Cambon, Karine;
Auregan, Gwenaelle;
Deglon, Nicole;
Roze, Emmanuel;
Caboche, Jocelyne

Publication type:

Article

Muscle-specific expression of insulin-like growth factor 1 improves outcome in Lama2Dy-w mice, a model for congenital muscular dystrophy type 1A.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 12, p. 2333, doi. 10.1093/hmg/ddr126

By:

Kumar, Ajay;
Yamauchi, Jenny;
Girgenrath, Tanya;
Girgenrath, Mahasweta

Publication type:

Article

Placing mitochondrial DNA mutations within the progression model of type I endometrial carcinoma.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 12, p. 2394, doi. 10.1093/hmg/ddr146

By:

Guerra, Flora;
Kurelac, Ivana;
Cormio, Antonella;
Zuntini, Roberta;
Amato, Laura Benedetta;
Ceccarelli, Claudio;
Santini, Donatella;
Cormio, Gennaro;
Fracasso, Flavio;
Selvaggi, Luigi;
Resta, Leonardo;
Attimonelli, Marcella;
Gadaleta, Maria Nicola;
Gasparre, Giuseppe

Publication type:

Article

Genome-wide meta-analysis for severe diabetic retinopathy.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 12, p. 2472, doi. 10.1093/hmg/ddr121

By:

Grassi, Michael A.;
Tikhomirov, Anna;
Ramalingam, Sudha;
Below, Jennifer E.;
Cox, Nancy J.;
Nicolae, Dan L.

Publication type:

Article

Expression of tumor-promoting Cyr61 is regulated by hTRA2-β1 and acidosis.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 12, p. 2356, doi. 10.1093/hmg/ddr128

By:

Hirschfeld, Marc;
Jaeger, Markus;
Buratti, Emanuele;
Stuani, Cristiana;
Grueneisen, Johannes;
Gitsch, Gerald;
Stickeler, Elmar

Publication type:

Article

SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 12, p. 2297, doi. 10.1093/hmg/ddr122

By:

Fassio, Anna;
Patry, Lysanne;
Congia, Sonia;
Onofri, Franco;
Piton, Amelie;
Gauthier, Julie;
Pozzi, Davide;
Messa, Mirko;
Defranchi, Enrico;
Fadda, Manuela;
Corradi, Anna;
Baldelli, Pietro;
Lapointe, Line;
St-Onge, Judith;
Meloche, Caroline;
Mottron, Laurent;
Valtorta, Flavia;
Khoa Nguyen, Dang;
Rouleau, Guy A.;
Benfenati, Fabio

Publication type:

Article

Improved risk prediction for Crohn's disease with a multi-locus approach.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 12, p. 2435

By:

Kang, Jia;
Kugathasan, Subra;
Georges, Michel;
Zhao, Hongyu;
Cho, Judy H.

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 12, p. NP, doi. 10.1093/hmg/ddr186
Publication type:: Article

The MYH9/APOL1 region and chronic kidney disease in European-Americans.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 12, p. 2450, doi. 10.1093/hmg/ddr118

By:

O'Seaghdha, Conall M.;
Parekh, Rulan S.;
Hwang, Shih-Jen;
Li, Man;
Köttgen, Anna;
Coresh, Josef;
Yang, Qiong;
Fox, Caroline S.;
Kao, W.H. Linda

Publication type:

Article

ApoE isoform-specific regulation of regeneration in the peripheral nervous system.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 12, p. 2406, doi. 10.1093/hmg/ddr147

By:

Comley, Laura H.;
Fuller, Heidi R.;
Wishart, Thomas M.;
Mutsaers, Chantal A.;
Thomson, Derek;
Wright, Ann K.;
Ribchester, Richard R.;
Morris, Glenn E.;
Parson, Simon H.;
Horsburgh, Karen;
Gillingwater, Thomas H.

Publication type:

Article

Striatal neurons expressing full-length mutant huntingtin exhibit decreased N-cadherin and altered neuritogenesis.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 12, p. 2344, doi. 10.1093/hmg/ddr127

By:

Reis, Surya A.;
Thompson, Morgan N.;
Lee, Jong-Min;
Fossale, Elisa;
Kim, Hyung-Hwan;
Liao, James K.;
Moskowitz, Michael A.;
Shaw, Stanley Y.;
Dong, Linda;
Haggarty, Stephen J.;
MacDonald, Marcy E.;
Seong, Ihn Sik

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 12, p. NP, doi. 10.1093/hmg/ddr182
Publication type:: Article