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Dissection of the genetics of Parkinson's disease identifies an additional association 5′ of SNCA and multiple associated haplotypes at 17q21.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 2, p. 345, doi. 10.1093/hmg/ddq469
- Publication type:
- Article
A novel mouse model of cerebral cavernous malformations based on the two-hit mutation hypothesis recapitulates the human disease.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 2, p. 211, doi. 10.1093/hmg/ddq433
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- Article
Meclizine is neuroprotective in models of Huntington's disease.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 2, p. 294, doi. 10.1093/hmg/ddq464
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- Publication type:
- Article
Loss-of-function point mutations associated with renal tubular dysgenesis provide insights about renin function and cellular trafficking.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 2, p. 301, doi. 10.1093/hmg/ddq465
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- Publication type:
- Article
Disruption of PCP signaling causes limb morphogenesis and skeletal defects and may underlie Robinow syndrome and brachydactyly type B.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 2, p. 271, doi. 10.1093/hmg/ddq462
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- Publication type:
- Article
Npc1 haploinsufficiency promotes weight gain and metabolic features associated with insulin resistance.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 2, p. 312, doi. 10.1093/hmg/ddq466
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- Publication type:
- Article
Evidence of severe mitochondrial oxidative stress and a protective effect of low oxygen in mouse models of inherited photoreceptor degeneration.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 2, p. 322, doi. 10.1093/hmg/ddq467
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- Article
Contents Page.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 2, p. NP, doi. 10.1093/hmg/ddq532
- Publication type:
- Article
Systemic splicing factor deficiency causes tissue-specific defects: a zebrafish model for retinitis pigmentosa†.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 2, p. 368, doi. 10.1093/hmg/ddq473
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- Publication type:
- Article
Endothelial cells from humans and mice with polycystic kidney disease are characterized by polyploidy and chromosome segregation defects through survivin down-regulation.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 2, p. 354, doi. 10.1093/hmg/ddq470
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- Article
ERK activation by the polyphenols fisetin and resveratrol provides neuroprotection in multiple models of Huntington's disease.
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- Human Molecular Genetics, 2011, v. 20, n. 2, p. 261, doi. 10.1093/hmg/ddq460
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- Publication type:
- Article
Most genome-wide significant susceptibility loci for schizophrenia and bipolar disorder reported to date cross-traditional diagnostic boundaries.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 2, p. 387, doi. 10.1093/hmg/ddq471
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- Publication type:
- Article
Rare melanocortin-3 receptor mutations with in vitro functional consequences are associated with human obesity.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 2, p. 392, doi. 10.1093/hmg/ddq472
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- Publication type:
- Article
Astrocyte loss of mutant SOD1 delays ALS disease onset and progression in G85R transgenic mice.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 2, p. 286, doi. 10.1093/hmg/ddq463
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- Publication type:
- Article
Defective gonadotropin-releasing hormone neuron migration in mice lacking SEMA3A signalling through NRP1 and NRP2: implications for the aetiology of hypogonadotropic hypogonadism.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 2, p. 336, doi. 10.1093/hmg/ddq468
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- Publication type:
- Article
Cover Page.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 2, p. NP, doi. 10.1093/hmg/ddq533
- Publication type:
- Article
Subscription Page.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 2, p. NP, doi. 10.1093/hmg/ddq535
- Publication type:
- Article
Telomere deficiencies on chromosomes 9p, 15p, 15q and Xp: potential biomarkers for breast cancer risk.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 2, p. 378, doi. 10.1093/hmg/ddq461
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- Publication type:
- Article
Editorial Board.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 2, p. NP, doi. 10.1093/hmg/ddq534
- Publication type:
- Article
The Opdc missense mutation of Pax2 has a milder than loss-of-function phenotype.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 2, p. 223, doi. 10.1093/hmg/ddq457
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- Publication type:
- Article
A novel Caenorhabditis elegans allele, smn-1(cb131), mimicking a mild form of spinal muscular atrophy, provides a convenient drug screening platform highlighting new and pre-approved compounds.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 2, p. 245, doi. 10.1093/hmg/ddq459
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- Publication type:
- Article
Dystrophin conferral using human endothelium expressing HLA-E in the non-immunosuppressive murine model of Duchenne muscular dystrophy.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 2, p. 235, doi. 10.1093/hmg/ddq458
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- Publication type:
- Article