Works matching IS 09646906 AND DT 2010 AND VI 19 AND IP 8

Results: 24

Reduced RET expression in gut tissue of individuals carrying risk alleles of Hirschsprung's disease.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 8, p. 1461, doi. 10.1093/hmg/ddq020

By:

Miao, Xiaoping;
Leon, Thomas Yuk-Yu;
Ngan, Elly Sau-Wai;
So, Man-Ting;
Yuan, Zheng-Wei;
Lui, Vincent Chi-Hang;
Chen, Yan;
Wong, Kenneth Kak-Yuen;
Tam, Paul Kwong-Hang;
Garcia-Barceló, Mercè

Publication type:

Article

Wnt4/5a signalling coordinates cell adhesion and entry into meiosis during presumptive ovarian follicle development.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 8, p. 1539, doi. 10.1093/hmg/ddq027

By:

Naillat, Florence;
Prunskaite-Hyyryläinen, Renata;
Pietilä, Ilkka;
Sormunen, Raija;
Jokela, Tiina;
Shan, Jingdong;
Vainio, Seppo J.

Publication type:

Article

A primary cilia-dependent etiology for midline facial disorders.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 8, p. 1577, doi. 10.1093/hmg/ddq030

By:

Brugmann, Samantha A.;
Allen, Nancy C.;
James, Aaron W.;
Mekonnen, Zesemayat;
Madan, Elena;
Helms, Jill A.

Publication type:

Article

Deletion of the Parkin co-regulated gene causes defects in ependymal ciliary motility and hydrocephalus in the quakingviable mutant mouse.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 8, p. 1593, doi. 10.1093/hmg/ddq031

By:

Wilson, Gabrielle R.;
Wang, Hong X.;
Egan, Gary F.;
Robinson, Philip J.;
Delatycki, Martin B.;
O'Bryan, Moira K.;
Lockhart, Paul J.

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 8, p. NP, doi. 10.1093/hmg/ddq116
Publication type:: Article

Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 8, p. 1618, doi. 10.1093/hmg/ddq037

By:

Godler, David Eugeny;
Tassone, Flora;
Loesch, Danuta Zuzanna;
Taylor, Annette Kimball;
Gehling, Freya;
Hagerman, Randi Jenssen;
Burgess, Trent;
Ganesamoorthy, Devika;
Hennerich, Debbie;
Gordon, Lavinia;
Evans, Andrew;
Choo, K.H.;
Slater, Howard Robert

Publication type:

Article

The idic(X)(q13) in myeloid malignancies: breakpoint clustering in segmental duplications and association with TET2 mutations.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 8, p. 1507

By:

Paulsson, Kajsa;
Haferlach, Claudia;
Fonatsch, Christa;
Hagemeijer, Anne;
Andersen, Mette Klarskov;
Slovak, Marilyn L.;
Johansson, Bertil

Publication type:

Article

Functional analysis of CDKN2A/p16INK4a 5′-UTR variants predisposing to melanoma.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 8, p. 1479, doi. 10.1093/hmg/ddq022

By:

Bisio, Alessandra;
Nasti, Sabina;
Jordan, Jennifer J.;
Gargiulo, Sara;
Pastorino, Lorenza;
Provenzani, Alessandro;
Quattrone, Alessandro;
Queirolo, Paola;
Bianchi-Scarrà, Giovanna;
Ghiorzo, Paola;
Inga, Alberto

Publication type:

Article

A milieu of regulatory elements in the epidermal differentiation complex syntenic block: implications for atopic dermatitis and psoriasis.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 8, p. 1453, doi. 10.1093/hmg/ddq019

By:

de Guzman Strong, Cristina;
Conlan, Sean;
Deming, Clayton B.;
Cheng, Jun;
Sears, Karen E.;
Segre, Julia A.

Publication type:

Article

Full-length huntingtin levels modulate body weight by influencing insulin-like growth factor 1 expression.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 8, p. 1528, doi. 10.1093/hmg/ddq026

By:

Pouladi, Mahmoud A.;
Xie, Yuanyun;
Skotte, Niels Henning;
Ehrnhoefer, Dagmar E.;
Graham, Rona K.;
Kim, Jeong Eun;
Bissada, Nagat;
Yang, X. William;
Paganetti, Paolo;
Friedlander, Robert M.;
Leavitt, Blair R.;
Hayden, Michael R.

Publication type:

Article

Defects in middle ear cavitation cause conductive hearing loss in the Tcof1 mutant mouse.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 8, p. 1551, doi. 10.1093/hmg/ddq028

By:

Richter, Carol A.;
Amin, Susan;
Linden, Jennifer;
Dixon, Jill;
Dixon, Michael J.;
Tucker, Abigail S.

Publication type:

Article

Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 8, p. 1399, doi. 10.1093/hmg/ddq015

By:

Braida, Claudia;
Stefanatos, Rhoda K.A.;
Adam, Berit;
Mahajan, Navdeep;
Smeets, Hubert J.M.;
Niel, Florence;
Goizet, Cyril;
Arveiler, Benoit;
Koenig, Michel;
Lagier-Tourenne, Clotilde;
Mandel, Jean-Louis;
Faber, Catharina G.;
de Die-Smulders, Christine E.M.;
Spaans, Frank;
Monckton, Darren G.

Publication type:

Article

SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 8, p. 1492, doi. 10.1093/hmg/ddq023

By:

Riessland, Markus;
Ackermann, Bastian;
Förster, Anja;
Jakubik, Miriam;
Hauke, Jan;
Garbes, Lutz;
Fritzsche, Ina;
Mende, Ylva;
Blumcke, Ingmar;
Hahnen, Eric;
Wirth, Brunhilde

Publication type:

Article

Transcriptional changes in Huntington disease identified using genome-wide expression profiling and cross-platform analysis.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 8, p. 1438, doi. 10.1093/hmg/ddq018

By:

Becanovic, Kristina;
Pouladi, Mahmoud A.;
Lim, Raymond S.;
Kuhn, Alexandre;
Pavlidis, Paul;
Luthi-Carter, Ruth;
Hayden, Michael R.;
Leavitt, Blair R.

Publication type:

Article

A severe human metabolic disease caused by deficiency of the endoplasmatic mannosyltransferase hALG11 leads to congenital disorder of glycosylation-Ip.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 8, p. 1413, doi. 10.1093/hmg/ddq016

By:

Rind, Nina;
Schmeiser, Verena;
Thiel, Christian;
Absmanner, Birgit;
Lübbehusen, Jürgen;
Hocks, Julia;
Apeshiotis, Neophytos;
Wilichowski, Ekkehard;
Lehle, Ludwig;
Körner, Christian

Publication type:

Article

Constitutive β-catenin activation induces adrenal hyperplasia and promotes adrenal cancer development.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 8, p. 1561, doi. 10.1093/hmg/ddq029

By:

Berthon, Annabel;
Sahut-Barnola, Isabelle;
Lambert-Langlais, Sarah;
de Joussineau, Cyrille;
Damon-Soubeyrand, Christelle;
Louiset, Estelle;
Taketo, Mark M.;
Tissier, Frédérique;
Bertherat, Jérôme;
Lefrançois-Martinez, Anne-Marie;
Martinez, Antoine;
Val, Pierre

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 8, p. NP, doi. 10.1093/hmg/ddq118
Publication type:: Article

Genetic studies on the functional relevance of the protein prenyltransferases in skin keratinocytes.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 8, p. 1603, doi. 10.1093/hmg/ddq036

By:

Lee, Roger;
Chang, Sandy Y.;
Trinh, Hung;
Tu, Yiping;
White, Andrew C.;
Davies, Brandon S.J.;
Bergo, Martin O.;
Fong, Loren G.;
Lowry, William E.;
Young, Stephen G.

Publication type:

Article

DJ-1 deficient mice demonstrate similar vulnerability to pathogenic Ala53Thr human α-syn toxicity.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 8, p. 1425, doi. 10.1093/hmg/ddq017

By:

Ramsey, Chenere P.;
Tsika, Elpida;
Ischiropoulos, Harry;
Giasson, Benoit I.

Publication type:

Article

Mouse Prkar1a haploinsufficiency leads to an increase in tumors in the Trp53+/− or Rb1+/− backgrounds and chemically induced skin papillomas by dysregulation of the cell cycle and Wnt signaling.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 8, p. 1387, doi. 10.1093/hmg/ddq014

By:

Almeida, Madson Q.;
Muchow, Michael;
Boikos, Sosipatros;
Bauer, Andrew J.;
Griffin, Kurt J.;
Tsang, Kit Man;
Cheadle, Chris;
Watkins, Tonya;
Wen, Feng;
Starost, Matthew F.;
Bossis, Ioannis;
Nesterova, Maria;
Stratakis, Constantine A.

Publication type:

Article

Proteomics, bioinformatics and targeted gene expression analysis reveals up-regulation of cochlin and identifies other potential biomarkers in the mouse model for deafness in usher syndrome type 1F.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 8, p. 1515, doi. 10.1093/hmg/ddq025

By:

Chance, Mark R.;
Chang, Jinsook;
Liu, Shuqing;
Gokulrangan, Giridharan;
Chen, Daniel H.-C.;
Lindsay, Aaron;
Geng, Ruishuang;
Zheng, Qing Y.;
Alagramam, Kumar

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 8, p. NP, doi. 10.1093/hmg/ddq120
Publication type:: Article

Rho-kinase inactivation prolongs survival of an intermediate SMA mouse model.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 8, p. 1468, doi. 10.1093/hmg/ddq021

By:

Bowerman, Mélissa;
Beauvais, Ariane;
Anderson, Carrie L.;
Kothary, Rashmi

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 8, p. NP, doi. 10.1093/hmg/ddq114
Publication type:: Article