Works matching IS 09646906 AND DT 2010 AND VI 19 AND IP 9
Results: 24
Transgenic mice expressing mutant forms VCP/p97 recapitulate the full spectrum of IBMPFD including degeneration in muscle, brain and bone.
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- Human Molecular Genetics, 2010, v. 19, n. 9, p. 1741, doi. 10.1093/hmg/ddq050
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- Article
Genome-wide association study identifies polymorphisms in LEPR as determinants of plasma soluble leptin receptor levels.
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- Human Molecular Genetics, 2010, v. 19, n. 9, p. 1846, doi. 10.1093/hmg/ddq056
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- Article
Dok-7 promotes slow muscle integrity as well as neuromuscular junction formation in a zebrafish model of congenital myasthenic syndromes.
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- Human Molecular Genetics, 2010, v. 19, n. 9, p. 1726, doi. 10.1093/hmg/ddq049
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- Article
Cover Page.
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- Human Molecular Genetics, 2010, v. 19, n. 9, p. NP, doi. 10.1093/hmg/ddq117
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- Article
Fine-scale mapping of the 6p25.3 chronic lymphocytic leukaemia susceptibility locus.
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- Human Molecular Genetics, 2010, v. 19, n. 9, p. 1840, doi. 10.1093/hmg/ddq044
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- Article
Increased EFG- and PDGFα-receptor signaling by mutant FGF-receptor 2 contributes to osteoblast dysfunction in Apert craniosynostosis.
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- Human Molecular Genetics, 2010, v. 19, n. 9, p. 1678, doi. 10.1093/hmg/ddq045
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- Article
AP-2α knockout mice exhibit optic cup patterning defects and failure of optic stalk morphogenesis.
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- Human Molecular Genetics, 2010, v. 19, n. 9, p. 1791, doi. 10.1093/hmg/ddq060
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Subscription Page.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 9, p. NP, doi. 10.1093/hmg/ddq121
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- Article
Wilms tumor cells with WT1 mutations have characteristic features of mesenchymal stem cells and express molecular markers of paraxial mesoderm.
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- Human Molecular Genetics, 2010, v. 19, n. 9, p. 1651, doi. 10.1093/hmg/ddq042
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- Article
Discrete subcellular partitioning of human retrotransposon RNAs despite a common mechanism of genome insertion.
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- Human Molecular Genetics, 2010, v. 19, n. 9, p. 1712, doi. 10.1093/hmg/ddq048
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- Article
Editorial Board.
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- Human Molecular Genetics, 2010, v. 19, n. 9, p. NP, doi. 10.1093/hmg/ddq119
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- Article
CalDAG-GEFI down-regulation in the striatum as a neuroprotective change in Huntington's disease.
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- Human Molecular Genetics, 2010, v. 19, n. 9, p. 1756, doi. 10.1093/hmg/ddq055
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- Article
African ancestry allelic variation at the MYH9 gene contributes to increased susceptibility to non-diabetic end-stage kidney disease in Hispanic Americans.
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- Human Molecular Genetics, 2010, v. 19, n. 9, p. 1816, doi. 10.1093/hmg/ddq040
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- Article
ATR/Chk1 pathway is essential for resumption of DNA synthesis and cell survival in UV-irradiated XP variant cells.
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- Human Molecular Genetics, 2010, v. 19, n. 9, p. 1690, doi. 10.1093/hmg/ddq046
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- Article
Genetic variants in ABO blood group region, plasma soluble E-selectin levels and risk of type 2 diabetes.
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- Human Molecular Genetics, 2010, v. 19, n. 9, p. 1856, doi. 10.1093/hmg/ddq057
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- Article
Independent and population-specific association of risk variants at the IRGM locus with Crohn's disease.
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- Human Molecular Genetics, 2010, v. 19, n. 9, p. 1828, doi. 10.1093/hmg/ddq041
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- Article
Modulation of imprinted gene network in placenta results in normal development of in vitro manipulated mouse embryos.
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- Human Molecular Genetics, 2010, v. 19, n. 9, p. 1779, doi. 10.1093/hmg/ddq059
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- Article
Loss of thymidine kinase 2 alters neuronal bioenergetics and leads to neurodegeneration.
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- Human Molecular Genetics, 2010, v. 19, n. 9, p. 1669, doi. 10.1093/hmg/ddq043
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- Article
Dense mapping of MYH9 localizes the strongest kidney disease associations to the region of introns 13 to 15.
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- Human Molecular Genetics, 2010, v. 19, n. 9, p. 1805, doi. 10.1093/hmg/ddq039
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- Article
Extensive enteric nervous system abnormalities in mice transgenic for artificial chromosomes containing Parkinson disease-associated α-synuclein gene mutations precede central nervous system changes.
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- Human Molecular Genetics, 2010, v. 19, n. 9, p. 1633, doi. 10.1093/hmg/ddq038
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- Article
Lgi1 null mutant mice exhibit myoclonic seizures and CA1 neuronal hyperexcitability.
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- Human Molecular Genetics, 2010, v. 19, n. 9, p. 1702, doi. 10.1093/hmg/ddq047
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- Article
Stathmin, a microtubule-destabilizing protein, is dysregulated in spinal muscular atrophy†.
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- Human Molecular Genetics, 2010, v. 19, n. 9, p. 1766, doi. 10.1093/hmg/ddq058
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Contents Page.
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- Human Molecular Genetics, 2010, v. 19, n. 9, p. NP, doi. 10.1093/hmg/ddq115
- Publication type:
- Article
Large-scale genomic studies reveal central role of ABO in sP-selectin and sICAM-1 levels.
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- Human Molecular Genetics, 2010, v. 19, n. 9, p. 1863, doi. 10.1093/hmg/ddq061
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- Article