Works matching IS 09646906 AND DT 2007 AND VI 16 AND IP 23
Results: 20
Abnormal meiotic recombination in infertile men and its association with sperm aneuploidy.
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- Human Molecular Genetics, 2007, v. 16, n. 23, p. 2870, doi. 10.1093/hmg/ddm246
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Genetic association of CTNNA3 with late-onset Alzheimer's disease in females.
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- Human Molecular Genetics, 2007, v. 16, n. 23, p. 2854
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On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria.
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- Human Molecular Genetics, 2007, v. 16, n. 23, p. 2989, doi. 10.1093/hmg/ddm269
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Targeted disruption of hepatic frataxin expression causes impaired mitochondrial function, decreased life span and tumor growth in mice.
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- Human Molecular Genetics, 2007, v. 16, n. 23, p. 2987, doi. 10.1093/hmg/ddm267
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The voltage-gated sodium channel Scn8a is a genetic modifier of severe myoclonic epilepsy of infancy.
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- Human Molecular Genetics, 2007, v. 16, n. 23, p. 2892, doi. 10.1093/hmg/ddm248
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- Article
Paraquat induces dopaminergic dysfunction and proteasome impairment in DJ-1-deficient mice.
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- Human Molecular Genetics, 2007, v. 16, n. 23, p. 2900, doi. 10.1093/hmg/ddm249
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Neurexin 3 polymorphisms are associated with alcohol dependence and altered expression of specific isoforms.
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- Human Molecular Genetics, 2007, v. 16, n. 23, p. 2880, doi. 10.1093/hmg/ddm247
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Array CGH analysis of copy number variation identifies 1284 new genes variant in healthy white males: implications for association studies of complex diseases.
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- Human Molecular Genetics, 2007, v. 16, n. 23, p. 2783, doi. 10.1093/hmg/ddm208
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Reduced life span with heart and muscle dysfunction in Drosophila sarcoglycan mutants.
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- Human Molecular Genetics, 2007, v. 16, n. 23, p. 2933, doi. 10.1093/hmg/ddm254
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Molecular mechanisms responsible for aberrant splicing of SERCA1 in myotonic dystrophy type 1.
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- Human Molecular Genetics, 2007, v. 16, n. 23, p. 2834, doi. 10.1093/hmg/ddm239
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Adipose tissue mass is modulated by SLUG (SNAI2).
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- Human Molecular Genetics, 2007, v. 16, n. 23, p. 2972, doi. 10.1093/hmg/ddm278
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Association of haplotypic variants in DRD2, ANKK1, TTC12 and NCAM1 to alcohol dependence in independent case–control and family samples.
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- Human Molecular Genetics, 2007, v. 16, n. 23, p. 2844, doi. 10.1093/hmg/ddm240
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Distal axonopathy in an alsin-deficient mouse model†.
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- Human Molecular Genetics, 2007, v. 16, n. 23, p. 2911, doi. 10.1093/hmg/ddm251
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Common genetic variation in calpain-10 gene (CAPN10) and diabetes risk in a multi-ethnic cohort of American postmenopausal women.
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- Human Molecular Genetics, 2007, v. 16, n. 23, p. 2960, doi. 10.1093/hmg/ddm256
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Nesprin-2 giant safeguards nuclear envelope architecture in LMNA S143F progeria cells.
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- Human Molecular Genetics, 2007, v. 16, n. 23, p. 2944, doi. 10.1093/hmg/ddm255
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Receptor function, dominant negative activity and phenotype correlations for MC1R variant alleles.
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- Human Molecular Genetics, 2007, v. 16, n. 23, p. 2988, doi. 10.1093/hmg/ddm268
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Identification of TRAF6-dependent NEMO polyubiquitination sites through analysis of a new NEMO mutation causing incontinentia pigmenti.
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- Human Molecular Genetics, 2007, v. 16, n. 23, p. 2805, doi. 10.1093/hmg/ddm237
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- Article
Nesprin-1 and -2 are involved in the pathogenesis of Emery–Dreifuss muscular dystrophy and are critical for nuclear envelope integrity.
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- Human Molecular Genetics, 2007, v. 16, n. 23, p. 2816, doi. 10.1093/hmg/ddm238
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Loss of Wnt4 and Foxl2 leads to female-to-male sex reversal extending to germ cells.
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- Human Molecular Genetics, 2007, v. 16, n. 23, p. 2795, doi. 10.1093/hmg/ddm235
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- Article
α7 nicotinic acetylcholine receptor mRNA expression and binding in postmortem human brain are associated with genetic variation in neuregulin 1.
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- Human Molecular Genetics, 2007, v. 16, n. 23, p. 2921, doi. 10.1093/hmg/ddm253
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- Article