Works matching IS 09646906 AND DT 2003 AND VI 12 AND IP 9

Results: 13

Genomic rearrangements account for more than one-third of the BRCA1 mutations in northern Italian breast/ovarian cancer families.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 9, p. 1055, doi. 10.1093/hmg/ddg120

By:

Montagna, Marco;
Palma, Maurizia Dalla;
Menin, Chiara;
Agata, Simona;
De Nicolo, Arcangela;
Chieco-Bianchi, Luigi;
D'Andrea, Emma

Publication type:

Article

Production of MPS VII mouse (Gustm(hE540A·mE536A)Sly) doubly tolerant to human and mouse β-glucuronidase.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 9, p. 961, doi. 10.1093/hmg/ddg119

By:

Tomatsu, Shunji;
Orii, Koji O.;
Vogler, Carole;
Grubb, Jeffrey H.;
Snella, Elizabeth M.;
Gutierrez, Monica;
Dieter, Tatiana;
Holden, Christopher C.;
Sukegawa, Kazuko;
Orii, Tadao;
Kondo, Naomi;
Sly, William S.

Publication type:

Article

Spontaneous deletion of epilepsy gene orthologs in a mutant mouse with a low electroconvulsive threshold.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 9, p. 975, doi. 10.1093/hmg/ddg118

By:

Yang, Yan;
Beyer, Barbara J.;
Otto, James F.;
O'Brien, Timothy P.;
Letts, Verity A.;
White, H. Steve;
Frankel, Wayne N.

Publication type:

Article

Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 9, p. 1073, doi. 10.1093/hmg/ddg117

By:

Jacobson, Samuel G.;
Cideciyan, Artur V.;
Aleman, Tomas S.;
Pianta, Michael J.;
Sumaroka, Alexander;
Schwartz, Sharon B.;
Smilko, Elaine E.;
Milam, Ann H.;
Sheffield, Val C.;
Stone, Edwin M.

Publication type:

Article

Transgenic expression of a dominant-negative connexin26 causes degeneration of the organ of Corti and non-syndromic deafness.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 9, p. 995, doi. 10.1093/hmg/ddg116

By:

Kudo, Takayuki;
Kure, Shigeo;
Ikeda, Katsuhisa;
Xia, An-Ping;
Katori, Yukio;
Suzuki, Masaaki;
Kojima, Kanako;
Ichinohe, Akiko;
Suzuki, Yoichi;
Aoki, Yoko;
Kobayashi, Toshimitsu;
Matsubara, Yoichi

Publication type:

Article

Selenoprotein N: an endoplasmic reticulum glycoprotein with an early developmental expression pattern.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 9, p. 1045, doi. 10.1093/hmg/ddg115

By:

Petit, Nathalie;
Lescure, Alain;
Rederstorff, Mathieu;
Krol, Alain;
Moghadaszadeh, Behzad;
Wewer, Ulla M.;
Guicheney, Pascale

Publication type:

Article

The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 9, p. 949, doi. 10.1093/hmg/ddg114

By:

Willemsen, Rob;
Hoogeveen-Westerveld, Marianne;
Reis, Surya;
Holstege, Joan;
Severijnen, Lies-Anne W.F.M.;
Nieuwenhuizen, Ingeborg M.;
Schrier, Mariette;
van Unen, Leontine;
Tassone, Flora;
Hoogeveen, Andre T.;
Hagerman, Paul J.;
Mientjes, Edwin J.;
Oostra, Ben A.

Publication type:

Article

Integration of the cytogenetic map with the draft human genome sequence.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 9, p. 1037, doi. 10.1093/hmg/ddg113

By:

Furey, Terrence S.;
Haussler, David

Publication type:

Article

Aberrant actin cytoskeleton leads to accelerated proliferation of corneal epithelial cells in mice deficient for destrin (actin depolymerizing factor).

Published in:

Human Molecular Genetics, 2003, v. 12, n. 9, p. 1029, doi. 10.1093/hmg/ddg112

By:

Ikeda, Sakae;
Cunningham, Leslie A.;
Boggess, Dawnalyn;
Hobson, Craig D.;
Sundberg, John P.;
Naggert, Jürgen K.;
Smith, Richard S.;
Nishina, Patsy M.

Publication type:

Article

Candidate DNA replication initiation regions at human trinucleotide repeat disease loci.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 9, p. 1021, doi. 10.1093/hmg/ddg111

By:

Nenguke, Taurai;
Aladjem, Mirit I.;
Gusella, James F.;
Wexler, Nancy S.;
Arnheim, Norman

Publication type:

Article

Conserved methylation imprints in the human and mouse GRB10 genes with divergent allelic expression suggests differential reading of the same mark.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 9, p. 1005, doi. 10.1093/hmg/ddg110

By:

Arnaud, Philippe;
Monk, David;
Hitchins, Megan;
Gordon, Emma;
Dean, Wendy;
Beechey, Colin V.;
Peters, Jo;
Craigen, William;
Preece, Michael;
Stanier, Philip;
Moore, Gudrun E.;
Kelsey, Gavin

Publication type:

Article

Raised intracellular glucose concentrations reduce aggregation and cell death caused by mutant huntingtin exon 1 by decreasing mTOR phosphorylation and inducing autophagy.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 9, p. 985, doi. 10.1093/hmg/ddg109

By:

Ravikumar, Brinda;
Stewart, Abigail;
Kita, Hiroko;
Kato, Kikuya;
Duden, Rainer;
Rubinsztein, David C.

Publication type:

Article

Structure–function analysis reveals the molecular determinants of the impaired biological function of DAX-1 mutants in AHC patients.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 9, p. 1063, doi. 10.1093/hmg/ddg108

By:

Lehmann, Sylvia G.;
Wurtz, Jean-Marie;
Renaud, Jean-Paul;
Sassone-Corsi, Paolo;
Lalli, Enzo

Publication type:

Article