Works matching IS 09646906 AND DT 2007 AND VI 16 AND IP 17
Results: 12
A stop codon mutation in SCN9A causes lack of pain sensation.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 17, p. 2114, doi. 10.1093/hmg/ddm160
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- Publication type:
- Article
The coding polymorphism T263I in TGF-β1 is associated with otosclerosis in two independent populations.
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- Human Molecular Genetics, 2007, v. 16, n. 17, p. 2021, doi. 10.1093/hmg/ddm150
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- Publication type:
- Article
Rapid evolution of primate ESX1, an X-linked placenta- and testis-expressed homeobox gene.
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- Human Molecular Genetics, 2007, v. 16, n. 17, p. 2053, doi. 10.1093/hmg/ddm153
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- Article
Reduced cell proliferation and increased apoptosis are significant pathological mechanisms in a murine model of mild pseudoachondroplasia resulting from a mutation in the C-terminal domain of COMP.
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- Human Molecular Genetics, 2007, v. 16, n. 17, p. 2072, doi. 10.1093/hmg/ddm155
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- Article
The molecular basis of Pallister–Hall associated polydactyly.
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- Human Molecular Genetics, 2007, v. 16, n. 17, p. 2089, doi. 10.1093/hmg/ddm156
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- Publication type:
- Article
IKAP/hELP1 deficiency in the cerebrum of familial dysautonomia patients results in down regulation of genes involved in oligodendrocyte differentiation and in myelination.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 17, p. 2097, doi. 10.1093/hmg/ddm157
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- Article
Functional capacity of dystrophins carrying deletions in the N-terminal actin-binding domain.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 17, p. 2105, doi. 10.1093/hmg/ddm158
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- Publication type:
- Article
Modeling the monosomy for the telomeric part of human chromosome 21 reveals haploinsufficient genes modulating the inflammatory and airway responses.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 17, p. 2040, doi. 10.1093/hmg/ddm152
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- Publication type:
- Article
Down-regulation of the dopamine receptor D2 in mice lacking ataxin 1.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 17, p. 2122, doi. 10.1093/hmg/ddm162
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- Article
Inverse correlation between expression of the Wolfs Hirschhorn candidate gene Letm1 and mitochondrial volume in C. elegans and in mammalian cells.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 17, p. 2061, doi. 10.1093/hmg/ddm154
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- Publication type:
- Article
Mechanistic insight into the dominant mode of the Parkinson's disease-associated G2019S LRRK2 mutation.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 17, p. 2031, doi. 10.1093/hmg/ddm151
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- Publication type:
- Article
Complement factor H and hemicentin-1 in age-related macular degeneration and renal phenotypes.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 17, p. 2135, doi. 10.1093/hmg/ddm164
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- Article