Works matching IS 09646906 AND DT 2016 AND VI 25 AND IP 9
Results: 18
Whole exome sequencing identifies lncRNA GAS8-AS1 and LPAR4 as novel papillary thyroid carcinoma driver alternations.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 9, p. 1875, doi. 10.1093/hmg/ddw056
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- Article
Genome-wide association analysis of self-reported events in 6135 individuals and 252 827 controls identifies 8 loci associated with thrombosis.
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- Human Molecular Genetics, 2016, v. 25, n. 9, p. 1867, doi. 10.1093/hmg/ddw037
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- Article
A general framework for meta-analyzing dependent studies with overlapping subjects in association mapping.
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- Human Molecular Genetics, 2016, v. 25, n. 9, p. 1857, doi. 10.1093/hmg/ddw049
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- Article
Missense variants in the middle domain of DNM1L in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in Drosophila.
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- Human Molecular Genetics, 2016, v. 25, n. 9, p. 1846, doi. 10.1093/hmg/ddw059
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- Article
Germline ESR2 mutation predisposes to medullary thyroid carcinoma and causes up-regulation of RET expression.
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- Human Molecular Genetics, 2016, v. 25, n. 9, p. 1836, doi. 10.1093/hmg/ddw057
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- Article
Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects.
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- Human Molecular Genetics, 2016, v. 25, n. 9, p. 1824, doi. 10.1093/hmg/ddw054
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- Article
SLC52A3, A Brown-Vialetto-van Laere syndrome candidate gene is essential for mouse development, but dispensable for motor neuron differentiation.
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- Human Molecular Genetics, 2016, v. 25, n. 9, p. 1814, doi. 10.1093/hmg/ddw053
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- Article
Poly-dipeptides encoded by the C9ORF72 repeats block global protein translation.
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- Human Molecular Genetics, 2016, v. 25, n. 9, p. 1803, doi. 10.1093/hmg/ddw052
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- Article
Mitochondrial targeting of XJB-5-131 attenuates or improves pathophysiology in HdhQ150 animals with well-developed disease phenotypes.
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- Human Molecular Genetics, 2016, v. 25, n. 9, p. 1792, doi. 10.1093/hmg/ddw051
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- Article
Motor deficits associated with Huntington's disease occur in the absence of striatal degeneration in BACHD transgenic mice.
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- Human Molecular Genetics, 2016, v. 25, n. 9, p. 1780, doi. 10.1093/hmg/ddw050
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- Article
The handedness-associated PCSK6 locus spans an intronic promoter regulating novel transcripts.
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- Human Molecular Genetics, 2016, v. 25, n. 9, p. 1771, doi. 10.1093/hmg/ddw047
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- Article
Defining functional classes of Barth syndrome mutation in humans.
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- Human Molecular Genetics, 2016, v. 25, n. 9, p. 1754, doi. 10.1093/hmg/ddw046
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- Article
Mitochondria-targeted molecules MitoQ and SS31 reduce mutant huntingtin-induced mitochondrial toxicity and synaptic damage in Huntington's disease.
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- Human Molecular Genetics, 2016, v. 25, n. 9, p. 1739, doi. 10.1093/hmg/ddw045
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- Article
Tissue-specific models of spinal muscular atrophy confirm a critical role of SMN in motor neurons from embryonic to adult stages.
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- Human Molecular Genetics, 2016, v. 25, n. 9, p. 1728, doi. 10.1093/hmg/ddw044
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- Article
Global hypermethylation in fetal cortex of Down syndrome due to DNMT3L overexpression.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 9, p. 1714, doi. 10.1093/hmg/ddw043
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- Article
NF1 germline mutation differentially dictates optic glioma formation and growth in neurofibromatosis-1.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 9, p. 1703, doi. 10.1093/hmg/ddw039
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- Article
Acute and crucial requirement for MeCP2 function upon transition from early to late adult stages of brain maturation.
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- Human Molecular Genetics, 2016, v. 25, n. 9, p. 1690, doi. 10.1093/hmg/ddw038
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- Article
αB-Crystallin overexpression in astrocytes modulates the phenotype of the BACHD mouse model of Huntington's disease.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 9, p. 1677, doi. 10.1093/hmg/ddw028
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- Article