Works matching IS 09646906 AND DT 2003 AND VI 12 AND IP 7

Results: 11

Editorial.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 7, p. 699, doi. 10.1093/hmg/ddg095

By:

Davies, Kay;
Willard, Huntington

Publication type:

Article

E-box mutations in the RAPSN promoter region in eight cases with congenital myasthenic syndrome.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 7, p. 739, doi. 10.1093/hmg/ddg089

By:

Ohno, Kinji;
Sadeh, Menachem;
Blatt, Ilan;
Brengman, Joan M.;
Engel, Andrew G.

Publication type:

Article

Linkage disequilibrium patterns of the human genome across populations.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 7, p. 771, doi. 10.1093/hmg/ddg088

By:

Shifman, Sagiv;
Kuypers, Jane;
Kokoris, Mark;
Yakir, Benjamin;
Darvasi, Ariel

Publication type:

Article

Non-syndromic vestibular disorder with otoconial agenesis in tilted/mergulhador mice caused by mutations in otopetrin 1.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 7, p. 777, doi. 10.1093/hmg/ddg087

By:

Hurle, Belen;
Ignatova, Elena;
Massironi, Silvia M.;
Mashimo, Tomoji;
Rios, Xavier;
Thalmann, Isolde;
Thalmann, Ruediger;
Ornitz, David M.

Publication type:

Article

PQBP-1 transgenic mice show a late-onset motor neuron disease-like phenotype.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 7, p. 711, doi. 10.1093/hmg/ddg084

By:

Okuda, Tomohiro;
Hattori, Hiroshi;
Takeuchi, Sousuke;
Shimizu, Jun;
Ueda, Hiroko;
Palvimo, Jorma J.;
Kanazawa, Ichiro;
Kawano, Hitoshi;
Nakagawa, Masaya;
Okazawa, Hitoshi

Publication type:

Article

A comprehensive search for DNA amplification in lung cancer identifies inhibitors of apoptosis cIAP1 and cIAP2 as candidate oncogenes.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 7, p. 791, doi. 10.1093/hmg/ddg083

By:

Dai, Zunyan;
Zhu, Wei-Guo;
Morrison, Carl D.;
Brena, Romulo M.;
Smiraglia, Dominic J.;
Raval, Aparna;
Wu, Yue-Zhong;
Rush, Laura J.;
Ross, Patrick;
Molina, Julian R.;
Otterson, Gregory A.;
Plass, Christoph

Publication type:

Article

Defective secretion of recombinant fragments of fibrillin-1: implications of protein misfolding for the pathogenesis of Marfan syndrome and related disorders.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 7, p. 727, doi. 10.1093/hmg/ddg081

By:

Whiteman, Pat;
Handford, Penny A.

Publication type:

Article

The role of matrix metalloproteinase polymorphisms in the rate of decline in lung function.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 7, p. 803, doi. 10.1093/hmg/ddg080

By:

Joos, Ladina;
He, Jian-Qing;
Shepherdson, Megan B.;
Connett, John E.;
Anthonisen, Nicholas R.;
Paré, Peter D.;
Sandford, Andrew J.

Publication type:

Article

Alternative 5′ exons of the CFTR gene show developmental regulation.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 7, p. 759, doi. 10.1093/hmg/ddg079

By:

Mouchel, Nathalie;
Broackes-Carter, Fiona;
Harris, Ann

Publication type:

Article

Comparison of the genomes of human and mouse lays the foundation of genome zoology.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 7, p. 701, doi. 10.1093/hmg/ddg078

By:

Emes, Richard D.;
Goodstadt, Leo;
Winter, Eitan E.;
Ponting, Chris P.

Publication type:

Article

Aggresomes protect cells by enhancing the degradation of toxic polyglutamine-containing protein.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 7, p. 749, doi. 10.1093/hmg/ddg074

By:

Taylor, J. Paul;
Tanaka, Fumiaki;
Robitschek, Jon;
Sandoval, C. Miguel;
Taye, Addis;
Markovic-Plese, Silva;
Fischbeck, Kenneth H.

Publication type:

Article