Works matching IS 09646906 AND DT 2005 AND VI 14 AND IP 13
Results: 18
SINE exonic insertion in the PTPLA gene leads to multiple splicing defects and segregates with the autosomal recessive centronuclear myopathy in dog.
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- Human Molecular Genetics, 2005, v. 14, n. 13, p. 1905, doi. 10.1093/hmg/ddi201
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- Article
Interaction of presenilins with FKBP38 promotes apoptosis by reducing mitochondrial Bcl-2.
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- Human Molecular Genetics, 2005, v. 14, n. 13, p. 1889, doi. 10.1093/hmg/ddi195
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- Article
Species specific membrane anchoring of nyctalopin, a small leucine-rich repeat protein.
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- Human Molecular Genetics, 2005, v. 14, n. 13, p. 1877, doi. 10.1093/hmg/ddi194
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- Article
Regulation of odorant receptors: one allele at a time.
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- Human Molecular Genetics, 2005, v. 14, n. 13, p. 1903, doi. 10.1093/hmg/ddi193
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- Article
Gene expression in Huntington's disease skeletal muscle: a potential biomarker.
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- Human Molecular Genetics, 2005, v. 14, n. 13, p. 1863, doi. 10.1093/hmg/ddi192
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- Article
Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis.
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- Human Molecular Genetics, 2005, v. 14, n. 13, p. 1795, doi. 10.1093/hmg/ddi186
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- Article
A mouse model of tuberous sclerosis 1 showing background specific early post-natal mortality and metastatic renal cell carcinoma.
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- Human Molecular Genetics, 2005, v. 14, n. 13, p. 1839, doi. 10.1093/hmg/ddi190
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- Article
Treatment with trkC agonist antibodies delays disease progression in neuromuscular degeneration (nmd) mice.
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- Human Molecular Genetics, 2005, v. 14, n. 13, p. 1825, doi. 10.1093/hmg/ddi189
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- Article
Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome.
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- Human Molecular Genetics, 2005, v. 14, n. 13, p. 1815, doi. 10.1093/hmg/ddi188
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- Article
Haplotypes of the WNK1 gene associate with blood pressure variation in a severely hypertensive population from the British Genetics of Hypertension study.
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- Human Molecular Genetics, 2005, v. 14, n. 13, p. 1805, doi. 10.1093/hmg/ddi187
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- Article
Reduced proportion of Purkinje cells expressing paternally derived mutant Mecp2<sup>308</sup> allele in female mouse cerebellum is not due to a skewed primary pattern of X-chromosome inactivation.
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- Human Molecular Genetics, 2005, v. 14, n. 13, p. 1851, doi. 10.1093/hmg/ddi191
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- Article
Activation of the ALT pathway for telomere maintenance can affect other sequences in the human genome.
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- Human Molecular Genetics, 2005, v. 14, n. 13, p. 1785, doi. 10.1093/hmg/ddi185
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- Article
Mitochondrial DNA polymerase gamma is essential for mammalian embryogenesis.
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- Human Molecular Genetics, 2005, v. 14, n. 13, p. 1775, doi. 10.1093/hmg/ddi184
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- Article
Disruption of Abcc6 in the mouse: novel insight in the pathogenesis of pseudoxanthoma elasticum.
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- Human Molecular Genetics, 2005, v. 14, n. 13, p. 1763, doi. 10.1093/hmg/ddi183
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- Article
Genomic architecture of human 17q21 linked to frontotemporal dementia uncovers a highly homologous family of low-copy repeats in the tau region.
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- Human Molecular Genetics, 2005, v. 14, n. 13, p. 1753, doi. 10.1093/hmg/ddi182
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- Article
A novel functional VKORC1 promoter polymorphism is associated with inter-individual and inter-ethnic differences in warfarin sensitivity.
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- Human Molecular Genetics, 2005, v. 14, n. 13, p. 1745, doi. 10.1093/hmg/ddi180
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- Article
Zebrafish as a model for caveolin-associated muscle disease; caveolin-3 is required for myofibril organization and muscle cell patterning.
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- Human Molecular Genetics, 2005, v. 14, n. 13, p. 1727, doi. 10.1093/hmg/ddi179
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- Article
Cell type-specific gene expression of midbrain dopaminergic neurons reveals molecules involved in their vulnerability and protection.
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- Human Molecular Genetics, 2005, v. 14, n. 13, p. 1709, doi. 10.1093/hmg/ddi178
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- Article