Works matching IS 09646906 AND DT 2000 AND VI 9 AND IP 1

Results: 16

Cell cycle arrest enhances the in vitro cellular toxicity of the truncated Machado-Joseph disease gene product with an expanded polyglutamine stretch.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 1, p. 69, doi. 10.1093/hmg/9.1.69

By:

Yoshizawa, Toshihiro

Publication type:

Article

The sex-linked fidget mutation abolishes Brn4 /Pou3f4 gene expression in the embryonic inner ear.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 1, p. 79, doi. 10.1093/hmg/9.1.79

By:

Phippard, Deborah

Publication type:

Article

Independent association of an APOE gene promoter polymorphism with increased risk of myocardial infarction and decreased APOE plasma concentrations--the ECTIM Study.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 1, p. 57, doi. 10.1093/hmg/9.1.57

By:

Lambert, Jean-Charles;
Brousseau, Thierry;
Defosse, Véronique;
Evans, Alun;
Arveiler, Dominique;
Ruidavets, Jean-Bernard;
Haas, Bernadette;
Cambou, Jean-Pierre;
Luc, Gérald;
Ducimetière, Pierre;
Cambien, François;
Chartier-Harlin, Marie-Christine;
Amouyel, Philippe

Publication type:

Article

A frameshift mutation in prominin (mouse)-like 1 causes human retinal degeneration.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 1, p. 27, doi. 10.1093/hmg/9.1.27

By:

Maw, Marion A.

Publication type:

Article

Expanded polyglutamine peptides alone are intrinsically cytotoxic and cause neurodegeneration in Drosophila.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 1, p. 13, doi. 10.1093/hmg/9.1.13

By:

Marsh, J. Lawrence

Publication type:

Article

Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 1, p. 109, doi. 10.1093/hmg/9.1.109

By:

Cao, Henian

Publication type:

Article

CGG/CCG repeats exhibit orientation-dependent instability and orientation-independent fragility in Saccharomyces cerevisiae.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 1, p. 93, doi. 10.1093/hmg/9.1.93

By:

Balakumaran, Bala S.

Publication type:

Article

Motoneuronal cell death is not correlated with aggregate formation of androgen receptors containing an elongated polyglutamine tract.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 1, p. 133, doi. 10.1093/hmg/9.1.133

By:

Simeoni, Silvia

Publication type:

Article

Ser298 of MITF, a mutation site in Waardenburg syndrome type 2, is a phosphorylation site with functional significance.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 1, p. 125, doi. 10.1093/hmg/9.1.125

By:

Takeda, Kazuhisa;
Takemoto, Clifford;
Kobayashi, Ichiro

Publication type:

Article

Molecular structure and evolution of an alpha satellite/non-alpha satellite junction at 16p11.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 1, p. 113, doi. 10.1093/hmg/9.1.113

By:

Horvath, Juliann E.

Publication type:

Article

Profound obesity associated with a balanced translocation that disrupts the SIM1 gene.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 1, p. 101

By:

Holder, Jr., J. Lloyd;
Butte, Nancy F.;
Zinn, Andrew R.

Publication type:

Article

Subcellular localization and axonal transport of the survival motor neuron (SMN) protein in the developing rat spinal cord.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 1, p. 47, doi. 10.1093/hmg/9.1.47

By:

Pagliardini, Silvia

Publication type:

Article

NF1 microdeletion breakpoints are clustered at flanking repetitive sequences.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 1, p. 35, doi. 10.1093/hmg/9.1.35

By:

Dorschner, Michael O.

Publication type:

Article

Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 1, p. 63, doi. 10.1093/hmg/9.1.63

By:

Liu, Xue-Zhong

Publication type:

Article

Significant evidence for linkage of febrile seizures to chromosome 5q14-q15.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 1, p. 87, doi. 10.1093/hmg/9.1.87

By:

Nakayama, Junko;
Hamano, Kenzo;
Iwasaki, Nobuaki;
Nakahara, Satoko;
Horigome, Yumi;
Saitoh, Hisako;
Aoki, Takeshi;
Maki, Takako;
Kikuchi, Masahiro;
Migita, Takuo;
Ohto, Tatsuyuki;
Yokouchi, Yukako;
Tanaka, Ryuta;
Hasegawa, Makoto;
Matsui, Akira;
Hamaguchi, Hideo;
Arinami, Tadao

Publication type:

Article

Primary renal hypoplasia in humans and mice with PAX2 mutations: evidence of increased apoptosis in fetal kidneys of Pax2 [sup 1Neu] +/- mutant mice.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 1, p. 1, doi. 10.1093/hmg/9.1.1

By:

Porteous, Sarah

Publication type:

Article