Works matching IS 09646906 AND DT 2003 AND VI 12 AND IP 17

Results: 15

Expression of a truncated Sall1 transcriptional repressor is responsible for Townes–Brocks syndrome birth defects.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 17, p. 2221, doi. 10.1093/hmg/ddg233

By:

Kiefer, Susan McLeskey;
Ohlemiller, Kevin K.;
Yang, Jing;
McDill, Bradley W.;
Kohlhase, Jürgen;
Rauchman, Michael

Publication type:

Article

CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retina.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 17, p. 2179, doi. 10.1093/hmg/ddg232

By:

Mehalow, Adrienne K.;
Kameya, Shuhei;
Smith, Richard S.;
Hawes, Norman L.;
Denegre, James M.;
Young, James A.;
Bechtold, Lesley;
Haider, Neena B.;
Tepass, Ulrich;
Heckenlively, John R.;
Chang, Bo;
Naggert, Jürgen K.;
Nishina, Patsy M.

Publication type:

Article

Recombination across the centromere of disjoined and non-disjoined chromosome 21.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 17, p. 2229, doi. 10.1093/hmg/ddg220

By:

Laurent, Anne-Marie;
Li, Meizhang;
Sherman, Stephanie;
Roizès, Gérard;
Buard, Jérôme

Publication type:

Article

A mouse model for cystinuria type I.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 17, p. 2109, doi. 10.1093/hmg/ddg189

By:

Peters, T.;
Thaete, C.;
Wolf, S.;
Popp, A.;
Sedlmeier, R.;
Grosse, J.;
Nehls, M.C.;
Russ, A.;
Schlueter, V.

Publication type:

Article

Gene expression profile in multiple sclerosis patients and healthy controls: identifying pathways relevant to disease.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 17, p. 2191, doi. 10.1093/hmg/ddg221

By:

Bomprezzi, Roberto;
Ringnér, Markus;
Kim, Seungchan;
Bittner, Michael L.;
Khan, Javed;
Chen, Yidong;
Elkahloun, Abdel;
Yu, Aimee;
Bielekova, Bibiana;
Meltzer, Paul S.;
Martin, Roland;
McFarland, Henry F.;
Trent, Jeffrey M.

Publication type:

Article

Aberrant splicing induced by missense mutations in BRCA1: clues from a humanized mouse model.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 17, p. 2121, doi. 10.1093/hmg/ddg222

By:

Yang, Yongping;
Swaminathan, Srividya;
Martin, Betty K.;
Sharan, Shyam K.

Publication type:

Article

Enrichment of segmental duplications in regions of breaks of synteny between the human and mouse genomes suggest their involvement in evolutionary rearrangements.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 17, p. 2201, doi. 10.1093/hmg/ddg223

By:

Armengol, Lluís;
Pujana, Miguel Angel;
Cheung, Joseph;
Scherer, Stephen W.;
Estivill, Xavier

Publication type:

Article

High resolution mapping of an arthritis susceptibility locus on rat chromosome 4, and characterization of regulated phenotypes.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 17, p. 2087, doi. 10.1093/hmg/ddg224

By:

Ribbhammar, Ulrica;
Flornes, Line;
Bäckdahl, Liselotte;
Luthman, Holger;
Fossum, Sigbjörn;
Lorentzen, Johnny C.

Publication type:

Article

Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 17, p. 2241, doi. 10.1093/hmg/ddg225

By:

Merryweather-Clarke, Alison T.;
Cadet, Estelle;
Bomford, Adrian;
Capron, Dominique;
Viprakasit, Vip;
Miller, Anne;
McHugh, Paddy J.;
Chapman, Roger W.;
Pointon, Jennifer J.;
Wimhurst, Victoria L.C.;
Livesey, Karen J.;
Tanphaichitr, Voravarn;
Rochette, Jacques;
Robson, Kathryn J.H.

Publication type:

Article

Genetic unmasking of epigenetically silenced tumor suppressor genes in colon cancer cells deficient in DNA methyltransferases.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 17, p. 2209, doi. 10.1093/hmg/ddg226

By:

Paz, Maria F.;
Wei, Susan;
Cigudosa, Juan C.;
Rodriguez-Perales, Sandra;
Peinado, Miguel A.;
Huang, Tim Hui-Ming;
Esteller, Manel

Publication type:

Article

Intrinsic susceptibility to misfolding of a hot-spot for Hirschsprung disease mutations in the ectodomain of RET.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 17, p. 2133, doi. 10.1093/hmg/ddg227

By:

Kjær, Svend;
Ibáñez, Carlos F.

Publication type:

Article

Slc7a9-deficient mice develop cystinuria non-I and cystine urolithiasis.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 17, p. 2097, doi. 10.1093/hmg/ddg228

By:

Feliubadaló, Lídia;
Arbonés, María Lourdes;
Mañas, Sandra;
Chillarón, Josep;
Visa, Joana;
Rodés, Margot;
Rousaud, Ferran;
Zorzano, Antonio;
Palacín, Manuel;
Nunes, Virginia

Publication type:

Article

Chromatin of the Barr body: histone and non-histone proteins associated with or excluded from the inactive X chromosome.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 17, p. 2167, doi. 10.1093/hmg/ddg229

By:

Chadwick, Brian P.;
Willard, Huntington F.

Publication type:

Article

Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 17, p. 2145

By:

Yu, Wei;
Ballif, Blake C.;
Kashork, Catherine D.;
Heilstedt, Heidi A.;
Howard, Leslie A.;
Cai, Wei-Wen;
White, Lisa D.;
Liu, Wenbin;
Beaudet, Arthur L.;
Bejjani, Bassem A.;
Shaw, Chad A.;
Shaffer, Lisa G.

Publication type:

Article

Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage–fusion–bridge cycles are involved in generating terminal deletions.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 17, p. 2153, doi. 10.1093/hmg/ddg231

By:

Ballif, Blake C.;
Yu, Wei;
Shaw, Chad A.;
Kashork, Catherine D.;
Shaffer, Lisa G.

Publication type:

Article