Works matching IS 09646906 AND DT 2005 AND VI 14 AND IP 14
Results: 17
MeCP2 in neurons: closing in on the causes of Rett Syndrome.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 14, p. 2089, doi. 10.1093/hmg/ddi213
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- Article
A functional polymorphism within the MRP1 gene locus identified through its genomic signature of positive selection.
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- Human Molecular Genetics, 2005, v. 14, n. 14, p. 2075, doi. 10.1093/hmg/ddi212
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- Article
Mitochondrial localization of the Parkinson's disease related protein DJ-1: implications for pathogenesis.
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- Human Molecular Genetics, 2005, v. 14, n. 14, p. 2063, doi. 10.1093/hmg/ddi211
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- Article
Complex interactions among MHC haplotypes in multiple sclerosis: susceptibility and resistance.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 14, p. 2019, doi. 10.1093/hmg/ddi206
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- Article
Foxl2 is required for commitment to ovary differentiation.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 14, p. 2053, doi. 10.1093/hmg/ddi210
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- Article
The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNA methylation.
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- Human Molecular Genetics, 2005, v. 14, n. 14, p. 2035, doi. 10.1093/hmg/ddi208
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- Article
AP-2α selectively regulates fragile X mental retardation-1 gene transcription during embryonic development.
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- Human Molecular Genetics, 2005, v. 14, n. 14, p. 2027, doi. 10.1093/hmg/ddi207
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- Article
Copy number polymorphism and expression level variation of the human α-defensin genes DEFA1 and DEFA3.
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- Human Molecular Genetics, 2005, v. 14, n. 14, p. 2045, doi. 10.1093/hmg/ddi209
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- Article
Diverse small-molecule modulators of SMN expression found by high-throughput compound screening: early leads towards a therapeutic for spinal muscular atrophy.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 14, p. 2003, doi. 10.1093/hmg/ddi205
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- Article
Candidate gene analysis suggests a role for fatty acid biosynthesis and regulation of the complement system in the etiology of age-related maculopathy.
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- Human Molecular Genetics, 2005, v. 14, n. 14, p. 1991, doi. 10.1093/hmg/ddi204
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- Article
Identification of quantitative trait loci controlling cortical motor evoked potentials in experimental autoimmune encephalomyelitis: correlation with incidence, onset and severity of disease.
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- Human Molecular Genetics, 2005, v. 14, n. 14, p. 1977
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- Article
Functional dissection of sequence-specific NKX2-5 DNA binding domain mutations associated with human heart septation defects using a yeast-based system.
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- Human Molecular Genetics, 2005, v. 14, n. 14, p. 1965, doi. 10.1093/hmg/ddi202
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- Article
Fusion of the SUMO/Sentrin-specific protease 1 gene SENP1 and the embryonic polarity-related mesoderm development gene MESDC2 in a patient with an infantile teratoma and a constitutional t(12;15)(q13;q25).
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 14, p. 1955, doi. 10.1093/hmg/ddi200
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- Article
Haplotypes at the dystrobrevin binding protein 1 (DTNBP1) gene locus mediate risk for schizophrenia through reduced DTNBP1 expression.
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- Human Molecular Genetics, 2005, v. 14, n. 14, p. 1947, doi. 10.1093/hmg/ddi199
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- Article
CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 14, p. 1935, doi. 10.1093/hmg/ddi198
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- Article
Cardiomyopathy in dystrophin-deficient hearts is prevented by expression of a neuronal nitric oxide synthase transgene in the myocardium.
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- Human Molecular Genetics, 2005, v. 14, n. 14, p. 1921, doi. 10.1093/hmg/ddi197
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- Article
Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 14, p. 1907, doi. 10.1093/hmg/ddi196
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- Article