Works matching IS 09646906 AND DT 2003 AND VI 12 AND IP 10

Results: 13

Restoration of dystrophin expression in mdx muscle cells by chimeraplast-mediated exon skipping.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 10, p. 1087, doi. 10.1093/hmg/ddg133

By:

Bertoni, Carmen;
Lau, Catherine;
Rando, Thomas A.

Publication type:

Article

A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 10, p. 1171, doi. 10.1093/hmg/ddg121

By:

Monnier, Nicole;
Ferreiro, Ana;
Marty, Isabelle;
Labarre-Vila, Annick;
Mezin, Paulette;
Lunardi, Joel

Publication type:

Article

FOXC2 haploinsufficient mice are a model for human autosomal dominant lymphedema-distichiasis syndrome.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 10, p. 1179, doi. 10.1093/hmg/ddg123

By:

Kriederman, Benjamin M.;
Myloyde, Teressa L.;
Witte, Marlys H.;
Dagenais, Susan L.;
Witte, Charles L.;
Rennels, Margaret;
Bernas, Michael J.;
Lynch, Michelle T.;
Erickson, Robert P.;
Caulder, Mark S.;
Miura, Naoyuki;
Jackson, David;
Brooks, Brian P.;
Glover, Thomas W.

Publication type:

Article

Congenital hydrocephalus in hy3 mice is caused by a frameshift mutation in Hydin, a large novel gene.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 10, p. 1163, doi. 10.1093/hmg/ddg122

By:

Davy, Brian E.;
Robinson, Michael L.

Publication type:

Article

Identification of a novel lipase gene mutated in lpd mice with hypertriglyceridemia and associated with dyslipidemia in humans.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 10, p. 1131, doi. 10.1093/hmg/ddg124

By:

Wen, Xiao-Yan;
Hegele, Robert A.;
Wang, Jian;
Wang, Ding Yan;
Cheung, Joseph;
Wilson, Michael;
Yahyapour, Maryam;
Bai, Yahong;
Zhuang, Lihua;
Skaug, Jennifer;
Young, T. Kue;
Connelly, Philip W.;
Koop, Ben F.;
Tsui, Lap-Chee;
Stewart, A. Keith

Publication type:

Article

Genome-wide linkage analysis of bronchodilator responsiveness and post-bronchodilator spirometric phenotypes in chronic obstructive pulmonary disease.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 10, p. 1199, doi. 10.1093/hmg/ddg125

By:

Palmer, Lyle J.;
Celedón, Juan C.;
Chapman, Harold A.;
Speizer, Frank E.;
Weiss, Scott T.;
Silverman, Edwin K.

Publication type:

Article

A very long-chain acyl-CoA synthetase-deficient mouse and its relevance to X-linked adrenoleukodystrophy.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 10, p. 1145, doi. 10.1093/hmg/ddg126

By:

Heinzer, Ann K.;
Watkins, Paul A.;
Lu, Jyh-Feng;
Kemp, Stephan;
Moser, Ann B.;
Li, Yuan Yuan;
Mihalik, Stephanie;
Powers, James M.;
Smith, Kirby D.

Publication type:

Article

Prestin, a cochlear motor protein, is defective in non-syndromic hearing loss.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 10, p. 1155, doi. 10.1093/hmg/ddg127

By:

Liu, Xue Zhong;
Ouyang, Xiao Mei;
Xia, Xia Juan;
Zheng, Jing;
Pandya, Arti;
Li, Fang;
Du, Li Lin;
Welch, Katherine O.;
Petit, Christine;
Smith, Richard J.H.;
Webb, Bradley T.;
Yan, Denise;
Arnos, Kathleen S.;
Corey, David;
Dallos, Peter;
Nance, Walter E.;
Chen, Zheng Yi

Publication type:

Article

Genetic dissection of anxiety in autoimmune disease.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 10, p. 1079, doi. 10.1093/hmg/ddg128

By:

Nakamura, Kazuhiro;
Xiu, Yan;
Ohtsuji, Mareki;
Sugita, Gen;
Abe, Masaaki;
Ohtsuji, Naomi;
Hamano, Yoshitomo;
Jiang, Yi;
Takahashi, Noriko;
Shirai, Toshikazu;
Nishimura, Hiroyuki;
Hirose, Sachiko

Publication type:

Article

Molecular mechanisms underlying limb anomalies associated with cholesterol deficiency during gestation: implications of Hedgehog signaling.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 10, p. 1187, doi. 10.1093/hmg/ddg129

By:

Gofflot, Françoise;
Hars, Carine;
Illien, Françoise;
Chevy, Françoise;
Wolf, Claude;
Picard, Jacques J.;
Roux, Charles

Publication type:

Article

Functional polymorphisms in the paternally expressed XLαs and its cofactor ALEX decrease their mutual interaction and enhance receptor-mediated cAMP formation.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 10, p. 1121, doi. 10.1093/hmg/ddg130

By:

Freson, Kathleen;
Jaeken, Jaak;
Van Helvoirt, Monique;
de Zegher, Francis;
Wittevrongel, Christine;
Thys, Chantal;
Hoylaerts, Marc F.;
Vermylen, Jos;
Van Geet, Chris

Publication type:

Article

New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 10, p. 1111, doi. 10.1093/hmg/ddg131

By:

Pagani, Franco;
Stuani, Cristiana;
Tzetis, Maria;
Kanavakis, Emmanuel;
Efthymiadou, Alexandra;
Doudounakis, Stavros;
Casals, Teresa;
Baralle, Francisco E.

Publication type:

Article

Association of a functional 17β-estradiol sensitive IL6-174G/C promoter polymorphism with early-onset type 1 diabetes in females.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 10, p. 1101, doi. 10.1093/hmg/ddg132

By:

Kristiansen, Ole P.;
Nolsøe, Runa L.;
Larsen, Lykke;
Gjesing, Anette M.P.;
Johannesen, Jesper;
Larsen, Zenia M.;
Lykkesfeldt, Anne E.;
Karlsen, Allan E.;
Pociot, Flemming;
Mandrup-Poulsen, Thomas

Publication type:

Article