Works matching IS 09646906 AND DT 2011 AND VI 20 AND IP 8

Results: 22

APP-dependent up-regulation of Ptch1 underlies proliferation impairment of neural precursors in Down syndrome.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 8, p. 1560, doi. 10.1093/hmg/ddr033

By:

Trazzi, Stefania;
Mitrugno, Valentina Maria;
Valli, Emanuele;
Fuchs, Claudia;
Rizzi, Simona;
Guidi, Sandra;
Perini, Giovanni;
Bartesaghi, Renata;
Ciani, Elisabetta

Publication type:

Article

Genome-wide association analysis and fine mapping of NT-proBNP level provide novel insight into the role of the MTHFR-CLCN6-NPPA-NPPB gene cluster.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 8, p. 1660, doi. 10.1093/hmg/ddr035

By:

Del Greco M., Fabiola;
Pattaro, Cristian;
Luchner, Andreas;
Pichler, Irene;
Winkler, Thomas;
Hicks, Andrew A.;
Fuchsberger, Christian;
Franke, Andre;
Melville, Scott A.;
Peters, Annette;
Wichmann, H. Erich;
Schreiber, Stefan;
Heid, Iris M.;
Krawczak, Michael;
Minelli, Cosetta;
Wiedermann, Christian J.;
Pramstaller, Peter P.

Publication type:

Article

IKAP/Elp1 involvement in cytoskeleton regulation and implication for familial dysautonomia.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 8, p. 1585, doi. 10.1093/hmg/ddr036

By:

Cheishvili, David;
Maayan, Channa;
Cohen-Kupiec, Rachel;
Lefler, Sharon;
Weil, Miguel;
Ast, Gil;
Razin, Aharon

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 8, p. NP, doi. 10.1093/hmg/ddr096
Publication type:: Article

Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 8, p. 1595, doi. 10.1093/hmg/ddr037

By:

Pyott, Shawna M.;
Schwarze, Ulrike;
Christiansen, Helena E.;
Pepin, Melanie G.;
Leistritz, Dru F.;
Dineen, Richard;
Harris, Catharine;
Burton, Barbara K.;
Angle, Brad;
Kim, Katherine;
Sussman, Michael D.;
Weis, MaryAnn;
Eyre, David R.;
Russell, David W.;
McCarthy, Kevin J.;
Steiner, Robert D.;
Byers, Peter H.

Publication type:

Article

Impairment of the tRNA-splicing endonuclease subunit 54 (tsen54) gene causes neurological abnormalities and larval death in zebrafish models of pontocerebellar hypoplasia.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 8, p. 1574, doi. 10.1093/hmg/ddr034

By:

Kasher, Paul R.;
Namavar, Yasmin;
van Tijn, Paula;
Fluiter, Kees;
Sizarov, Aleksander;
Kamermans, Maarten;
Grierson, Andrew J.;
Zivkovic, Danica;
Baas, Frank

Publication type:

Article

Premature death and neurologic abnormalities in transgenic mice expressing a mutant huntingtin exon-2 fragment.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 8, p. 1633, doi. 10.1093/hmg/ddr040

By:

Tebbenkamp, Andrew T.N.;
Swing, Debbie;
Tessarollo, Lino;
Borchelt, David R.

Publication type:

Article

Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 8, p. 1625, doi. 10.1093/hmg/ddr039

By:

Pretorius, Pamela R.;
Aldahmesh, Mohammed A.;
Alkuraya, Fowzan S.;
Sheffield, Val C.;
Slusarski, Diane C.

Publication type:

Article

Over-expression of Grhl2 causes spina bifida in the Axial defects mutant mouse.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 8, p. 1536, doi. 10.1093/hmg/ddr031

By:

Brouns, Madeleine R.;
De Castro, Sandra C.P.;
Terwindt-Rouwenhorst, Els A.;
Massa, Valentina;
Hekking, Johan W.;
Hirst, Caroline S.;
Savery, Dawn;
Munts, Chantal;
Partridge, Darren;
Lamers, Wout;
Köhler, Eleonore;
van Straaten, Henny W.;
Copp, Andrew J.;
Greene, Nicholas D.E.

Publication type:

Article

The effects of EBV transformation on gene expression levels and methylation profiles.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 8, p. 1643

By:

Çalışkan, Minal;
Cusanovich, Darren A.;
Ober, Carole;
Gilad, Yoav

Publication type:

Article

Neutral mitochondrial heteroplasmy and the influence of aging.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 8, p. 1653, doi. 10.1093/hmg/ddr043

By:

Sondheimer, Neal;
Glatz, Catherine E.;
Tirone, Jack E.;
Deardorff, Matthew A.;
Krieger, Abba M.;
Hakonarson, Hakon

Publication type:

Article

The N-terminal region of centrosomal protein 290 (CEP290) restores vision in a zebrafish model of human blindness.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 8, p. 1467, doi. 10.1093/hmg/ddr025

By:

Baye, Lisa M.;
Patrinostro, Xiaobai;
Swaminathan, Svetha;
Beck, John S.;
Zhang, Yan;
Stone, Edwin M.;
Sheffield, Val C.;
Slusarski, Diane C.

Publication type:

Article

Natural selection and functional genetic variation in the p53 pathway.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 8, p. 1502, doi. 10.1093/hmg/ddr028

By:

Sucheston, Lara;
Witonsky, David B.;
Hastings, Darcie;
Yildiz, Ozlem;
Clark, Vanessa J.;
Di Rienzo, Anna;
Onel, Kenan

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 8, p. NP, doi. 10.1093/hmg/ddr097
Publication type:: Article

Contents Page.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 8, p. NP, doi. 10.1093/hmg/ddr095
Publication type:: Article

A complex regulatory network of transcription factors critical for ocular development and disease.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 8, p. 1610, doi. 10.1093/hmg/ddr038

By:

Acharya, Moulinath;
Huang, LiJia;
Fleisch, Valerie C.;
Allison, W. Ted;
Walter, Michael A.

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 8, p. NP, doi. 10.1093/hmg/ddr098
Publication type:: Article

SHOX interacts with the chondrogenic transcription factors SOX5 and SOX6 to activate the aggrecan enhancer.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 8, p. 1547, doi. 10.1093/hmg/ddr032

By:

Aza-Carmona, Miriam;
Shears, Debbie J.;
Yuste-Checa, Patricia;
Barca-Tierno, Verónica;
Hisado-Oliva, Alfonso;
Belinchón, Alberta;
Benito-Sanz, Sara;
Rodríguez, J. Ignacio;
Argente, Jesús;
Campos-Barros, Ángel;
Scambler, Peter J.;
Heath, Karen E.

Publication type:

Article

FGFR3 is a target of the homeobox transcription factor SHOX in limb development.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 8, p. 1524, doi. 10.1093/hmg/ddr030

By:

Decker, Eva;
Durand, Claudia;
Bender, Sebastian;
Rödelsperger, Christian;
Glaser, Anne;
Hecht, Jochen;
Schneider, Katja U.;
Rappold, Gudrun

Publication type:

Article

The FRA2C common fragile site maps to the borders of MYCN amplicons in neuroblastoma and is associated with gross chromosomal rearrangements in different cancers.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 8, p. 1488, doi. 10.1093/hmg/ddr027

By:

Blumrich, Anne;
Zapatka, Marc;
Brueckner, Lena M.;
Zheglo, Diana;
Schwab, Manfred;
Savelyeva, Larissa

Publication type:

Article

Partial recessive IFN-γR1 deficiency: genetic, immunological and clinical features of 14 patients from 11 kindreds.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 8, p. 1509, doi. 10.1093/hmg/ddr029

By:

Sologuren, Ithaisa;
Boisson-Dupuis, Stéphanie;
Pestano, Jose;
Vincent, Quentin Benoit;
Fernández-Pérez, Leandro;
Chapgier, Ariane;
Cárdenes, María;
Feinberg, Jacqueline;
García-Laorden, M. Isabel;
Picard, Capucine;
Santiago, Esther;
Kong, Xiaofei;
Jannière, Lucile;
Colino, Elena;
Herrera-Ramos, Estefanía;
Francés, Adela;
Navarrete, Carmen;
Blanche, Stéphane;
Faria, Emilia;
Remiszewski, Paweł

Publication type:

Article

Cyclin-G-associated kinase modifies α-synuclein expression levels and toxicity in Parkinson's disease: results from the GenePD Study.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 8, p. 1478, doi. 10.1093/hmg/ddr026

By:

Dumitriu, Alexandra;
Pacheco, Chris D.;
Wilk, Jemma B.;
Strathearn, Katherine E.;
Latourelle, Jeanne C.;
Goldwurm, Stefano;
Pezzoli, Gianni;
Rochet, Jean-Christophe;
Lindquist, Susan;
Myers, Richard H.

Publication type:

Article