Works matching IS 09646906 AND DT 2001 AND VI 10 AND IP 11
Results: 22
Mutations in the γ2 subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 11, p. 1215, doi. 10.1093/hmg/10.11.1215
- By:
- Publication type:
- Article
A mutation in the saposin A domain of the sphingolipid activator protein (prosaposin) gene results in a late-onset, chronic form of globoid cell leukodystrophy in the mouse.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 11, p. 1191, doi. 10.1093/hmg/10.11.1191
- By:
- Publication type:
- Article
Mutations in the X-linked RP2 gene cause intracellular misrouting and loss of the protein.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 11, p. 1177, doi. 10.1093/hmg/10.11.1177
- By:
- Publication type:
- Article
hMRE11: genomic structure and a null mutation identified in a transcript protected from nonsense-mediated mRNA decay.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 11, p. 1155, doi. 10.1093/hmg/10.11.1155
- By:
- Publication type:
- Article
The product of an oculopharyngeal muscular dystrophy gene, poly(A)-binding protein 2, interacts with SKIP and stimulates muscle-specific gene expression.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 11, p. 1129, doi. 10.1093/hmg/10.11.1129
- By:
- Publication type:
- Article
Mice containing a human chromosome 21 model behavioral impairment and cardiac anomalies of Down's syndrome.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 11, p. 1163, doi. 10.1093/hmg/10.11.1163
- By:
- Publication type:
- Article
Persistent Prop1 expression delays gonadotrope differentiation and enhances pituitary tumor susceptibility.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 11, p. 1141, doi. 10.1093/hmg/10.11.1141
- By:
- Publication type:
- Article
Disruption of an inner arm dynein heavy chain gene results in asthenozoospermia and reduced ciliary beat frequency.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 11, p. 1117, doi. 10.1093/hmg/10.11.1117
- By:
- Publication type:
- Article
Superoxide-induced massive apoptosis in cultured skin fibroblasts harboring the neurogenic ataxia retinitis pigmentosa (NARP) mutation in the ATPase-6 gene of the mitochondrial DNA.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 11, p. 1221, doi. 10.1093/hmg/10.11.1221
- By:
- Publication type:
- Article
Ataxin-7 interacts with a Cbl-associated protein that it recruits into neuronal intranuclear inclusions.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 11, p. 1201, doi. 10.1093/hmg/10.11.1201
- By:
- Publication type:
- Article
Truncating mutations in FOXC2 cause multiple lymphedema syndromes.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 11, p. 1185, doi. 10.1093/hmg/10.11.1185
- By:
- Publication type:
- Article
Mice containing a human chromosome 21 model behavioral impairment and cardiac anomalies of Down’s syndrome.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 11, p. 1163, doi. 10.1093/hmg/10.11.1163
- By:
- Publication type:
- Article
Ataxin-7 interacts with a Cbl-associated protein that it recruits into neuronal intranuclear inclusions.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 11, p. 1201, doi. 10.1093/hmg/10.11.1201
- By:
- Publication type:
- Article
Superoxide-induced massive apoptosis in cultured skin fibroblasts harboring the neurogenic ataxia retinitis pigmentosa (NARP) mutation in the ATPase-6 gene of the mitochondrial DNA.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 11, p. 1221, doi. 10.1093/hmg/10.11.1221
- By:
- Publication type:
- Article
Disruption of an inner arm dynein heavy chain gene results in asthenozoospermia and reduced ciliary beat frequency.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 11, p. 1117, doi. 10.1093/hmg/10.11.1117
- By:
- Publication type:
- Article
Truncating mutations in FOXC2 cause multiple lymphedema syndromes.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 11, p. 1185, doi. 10.1093/hmg/10.11.1185
- By:
- Publication type:
- Article
Persistent Prop1 expression delays gonadotrope differentiation and enhances pituitary tumor susceptibility.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 11, p. 1141, doi. 10.1093/hmg/10.11.1141
- By:
- Publication type:
- Article
The product of an oculopharyngeal muscular dystrophy gene, poly(A)-binding protein 2, interacts with SKIP and stimulates muscle-specific gene expression.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 11, p. 1129, doi. 10.1093/hmg/10.11.1129
- By:
- Publication type:
- Article
hMRE11: genomic structure and a null mutation identified in a transcript protected from nonsense-mediated mRNA decay.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 11, p. 1155, doi. 10.1093/hmg/10.11.1155
- By:
- Publication type:
- Article
Mutations in the X-linked RP2 gene cause intracellular misrouting and loss of the protein.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 11, p. 1177, doi. 10.1093/hmg/10.11.1177
- By:
- Publication type:
- Article
A mutation in the saposin A domain of the sphingolipid activator protein (prosaposin) gene results in a late-onset, chronic form of globoid cell leukodystrophy in the mouse.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 11, p. 1191, doi. 10.1093/hmg/10.11.1191
- By:
- Publication type:
- Article
Mutations in the γ [sub 2] subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 11, p. 1215, doi. 10.1093/hmg/10.11.1215
- By:
- Publication type:
- Article