Works matching IS 09646906 AND DT 2000 AND VI 9 AND IP 9

Results: 20

Decreased expression of striatal signaling genes in a mouse model of Huntington's disease.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 9, doi. 10.1093/hmg/9.9.1259

By:

Luthi-Carter, Ruth

Publication type:

Article

A full genome scan for age-related maculopathy.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 9, doi. 10.1093/hmg/9.9.1329

By:

Weeks, Daniel E.;
Conley, Yvette P.;
Mah, Tammy S.;
Paul, T. Otis;
Morse, Lawrence;
Ngo-Chang, Julilani;
Dailey, J.P.;
Ferrell, Robert E.;
Gorin, Michael B.

Publication type:

Article

A novel protein with RNA-binding motifs interacts with ataxin-2.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 9, doi. 10.1093/hmg/9.9.1303

By:

Shibata, Hiroki

Publication type:

Article

Dystrophin and utrophin influence fiber type composition and post-synaptic membrane structure.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 9, doi. 10.1093/hmg/9.9.1357

By:

Rafael, Jill A.

Publication type:

Article

Evidence for a gene influencing the TG/HDL-C ratio on chromosome 7q32.3-qter: a genome-wide scan in the Framingham Study.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 9, doi. 10.1093/hmg/9.9.1315

By:

Shearman, Amanda M.

Publication type:

Article

Myopathy phenotype of transgenic mice expressing active site-mutated inactive p94 skeletal muscle-specific calpain, the gene product responsible for limb girdle muscular dystrophy type 2A.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 9, doi. 10.1093/hmg/9.9.1393

By:

Tagawa, Kazuhiko;
Taya, Choji;
Hayashi, Yukiko;
Nakagawa, Masahiro;
Ono, Yasuko;
Fukuda, Rie;
Karasuyama, Hajime;
Toyama-Sorimachi, Noriko;
Katsui, Yukiko;
Hata, Shoji;
Ishiura, Shoichi;
Nonaka, Ikuya;
Seyama, Yosuke;
Arahata, Kiichi;
Yonekawa, Hiromichi;
Sorimachi, Hiroyuki

Publication type:

Article

Mutational analysis of the GPC3 /GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 9

By:

Veugelers, Mark

Publication type:

Article

MECP2 mutations account for most cases of typical forms of Rett syndrome.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 9, doi. 10.1093/hmg/9.9.1377

By:

Bienvenu, Thierry

Publication type:

Article

Evaluation of fine mapping strategies for a multifactorial disease locus: systematic linkage and association analysis of IDDM1 in the HLA region on chromosome 6p21.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 9, doi. 10.1093/hmg/9.9.1291

By:

Herr, Mathias

Publication type:

Article

Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cells.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 9, doi. 10.1093/hmg/9.9.1403

By:

Hewett, Jeffrey

Publication type:

Article

Linkage and linkage disequilibrium in chromosome band 1p36 in American Chaldeans with inflammatory bowel disease.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 9, doi. 10.1093/hmg/9.9.1425

By:

Cho, Judy H.

Publication type:

Article

Protein binding of a DRPLA family through arginine-glutamic acid dipeptide repeats is enhanced by extended polyglutamine.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 9, doi. 10.1093/hmg/9.9.1433

By:

Yanagisawa, Hiroko;
Bundo, Miki;
Miyashita, Toshiyuki;
Okamura-Oho, Yuko;
Tadokoro, Keiko;
Tokunaga, Katsushi;
Yamada, Masao

Publication type:

Article

Barhl1, a gene belonging to a new subfamily of mammalian homeobox genes, is expressed in migrating neurons of the CNS.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 9, doi. 10.1093/hmg/9.9.1443

By:

Bulfone, Alessandro

Publication type:

Article

Biochemical and structural analysis of missense mutations in N -acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypes.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 9, doi. 10.1093/hmg/9.9.1283

By:

Sukegawa, Kazuko

Publication type:

Article

Disruption of two novel genes by a translocation co-segregating with schizophrenia.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 9, doi. 10.1093/hmg/9.9.1415

By:

Millar, J. Kirsty

Publication type:

Article

A transcription-activating polymorphism in the ACHE promoter associated with acute sensitivity to anti-acetylcholinesterases.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 9, doi. 10.1093/hmg/9.9.1273

By:

Shapira, Michael;
Tur-Kaspa, Ilan;
Bosgraaf, Leonard;
Livni, Nadav;
Grant, Alastair D.;
Grisaru, Dan;
Korner, Mira;
Ebstein, Richard P.;
Soreq, Hermona

Publication type:

Article

Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 9, doi. 10.1093/hmg/9.9.1369

By:

Huppke, P.

Publication type:

Article

KRIT1 is mutated in hyperkeratotic cutaneous capillary-venous malformation associated with cerebral capillary malformation.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 9, doi. 10.1093/hmg/9.9.1351

By:

Eerola, Iiro

Publication type:

Article

Spectrum of Δ [sup 7]-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 9

By:

Yu, Hongwei

Publication type:

Article

Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B).

Published in:

Human Molecular Genetics, 2000, v. 9, n. 9, doi. 10.1093/hmg/9.9.1453

By:

Muchir, Antoine

Publication type:

Article