Works matching IS 09646906 AND DT 2002 AND VI 11 AND IP 2

Results: 10

Spastin, the protein mutatedin autosomal dominant hereditary spastic paraplegia, is involvedin microtubule dynamics.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 2, p. 153, doi. 10.1093/hmg/11.2.153

By:

Errico, Alessia;
Ballabio, Andrea;
Rugarli, ElenaI.

Publication type:

Article

Different substitutions at residueD218 of the X-linked transcription factor GATA1 lead to alteredclinical severity of macrothrombocytopenia and anemia and are associatedwith variable skewed X inactivation.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 2, p. 147, doi. 10.1093/hmg/11.2.147

By:

Freson, Kathleen;
Matthijs, Gert;
Thys, Chantal;
Mariën, Paul;
Hoylaerts, MarcF.;
Vermylen, Jos;
VanGeet, Chris

Publication type:

Article

Molecular classification of primarybreast tumors possessing distinct prognostic properties.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 2, p. 199, doi. 10.1093/hmg/11.2.199

By:

Iwao, Kyoko;
Matoba, Ryo;
Ueno, Noriko;
Ando, Akiko;
Miyoshi, Yasuo;
Matsubara, Kenichi;
Noguchi, Shinzaburo;
Kato, Kikuya

Publication type:

Article

Temporal regulation of CFTR expressionduring ovine lung development: implications for CF gene therapy.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 2, p. 125, doi. 10.1093/hmg/11.2.125

By:

Broackes-Carter, Fiona C.;
Mouchel, Nathalie;
Gill, Deborah;
Hyde, Stephen;
Bassett, John;
HarrisTowhom correspondence should be addressed. Fax: +44 1865222626; Email: aharris@molbiol.ox.ac.uk, Ann

Publication type:

Article

Somatic expansion behaviour ofthe (CTG)n repeat in myotonic dystrophy knock-in miceis differentially affected by Msh3 and Msh6 mismatch–repairproteins.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 2, p. 191, doi. 10.1093/hmg/11.2.191

By:

vanden Broek, Walther J. A. A.;
Nelen, Marcel R.;
Wansink, DerickG.;
Coerwinkel, MargaM.;
teRiele, Hein;
Groenen, PatriciaJ. T. A.;
Wieringa, Bé

Publication type:

Article

Identification of a new coppermetabolism gene by positional cloning in a purebred dog population.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 2, p. 165, doi. 10.1093/hmg/11.2.165

By:

van deSluis, Bart;
Rothuizen, Jan;
Pearson, Peter L.;
van Oost, BernardA.;
Wijmenga, Cisca

Publication type:

Article

Prevalence of HFE geneC282Y and H63D mutations in a French–Canadian populationof neonates and in referred patients.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 2, p. 185, doi. 10.1093/hmg/11.2.185

By:

Girouard, Joël;
Giguère, Yves;
Delage, Robert;
Rousseau, François

Publication type:

Article

Insight into Rett syndrome: MeCP2levels display tissue- and cell-specific differences and correlatewith neuronal maturation.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 2, p. 115, doi. 10.1093/hmg/11.2.115

By:

Shahbazian, Mona D.;
Antalffy, Barbara;
Armstrong, Dawna L.;
Zoghbi, Huda Y.

Publication type:

Article

Rescue of polyglutamine-mediatedcytotoxicity by double-stranded RNA-mediated RNA interference.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 2, p. 175

By:

CaplenTowhom correspondence should be addressed at: Medical Genetics Branch,National Human Genome Research Institute, National Institutes ofHealth, 10 Center Drive, 10C103, Bethesda, MD 20892, USA.Tel: +1 301 435 2833; Fax: +1 301 496 7184; ..., Natasha J.;
Taylor, J.Paul;
Statham, VictoriaS.;
Tanaka, Fumiaki;
Fire, Andrew;
Morgan, Richard A.

Publication type:

Article

High aggregate burden of somaticmtDNA point mutations in aging and Alzheimer’s diseasebrain.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 2, p. 133, doi. 10.1093/hmg/11.2.133

By:

Lin, Michael T.;
Simon, DavidK.;
Ahn, ColetteH.;
Kim, LaurenM.;
Beal, M.Flint

Publication type:

Article