Found: 20
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Molecular interaction of connexin 30.3 and connexin 31 suggests a dominant-negative mechanism associated with erythrokeratodermia variabilis.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 24, p. 3287, doi. 10.1093/hmg/ddg364
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- Article
Complement factor H mutations and gene polymorphisms in haemolytic uraemic syndrome: the C-257T, the A2089G and the G2881T polymorphisms are strongly associated with the disease.
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- Human Molecular Genetics, 2003, v. 12, n. 24, p. 3385, doi. 10.1093/hmg/ddg363
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- Article
Phosphorylation influences the translation state of FMRP-associated polyribosomes.
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- Human Molecular Genetics, 2003, v. 12, n. 24, p. 3295, doi. 10.1093/hmg/ddg350
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- Article
Mouse model of N-acetylgalactosamine-6-sulfate sulfatase deficiency (Galns−/−) produced by targeted disruption of the gene defective in Morquio A disease.
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- Human Molecular Genetics, 2003, v. 12, n. 24, p. 3349, doi. 10.1093/hmg/ddg366
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- Article
Functional interaction between BMPR-II and Tctex-1, a light chain of Dynein, is isoform-specific and disrupted by mutations underlying primary pulmonary hypertension.
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- Human Molecular Genetics, 2003, v. 12, n. 24, p. 3277, doi. 10.1093/hmg/ddg365
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- Article
Parent-of-origin effects on handedness and schizophrenia susceptibility on chromosome 2p12–q11.
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- Human Molecular Genetics, 2003, v. 12, n. 24, p. 3225, doi. 10.1093/hmg/ddg362
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- Article
PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23.
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- Human Molecular Genetics, 2003, v. 12, n. 24, p. 3215, doi. 10.1093/hmg/ddg358
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- Article
Impact of selection, mutation rate and genetic drift on human genetic variation.
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- Human Molecular Genetics, 2003, v. 12, n. 24, p. 3325, doi. 10.1093/hmg/ddg359
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- Article
Molecular basis of the functional podocin–nephrin complex: mutations in the NPHS2 gene disrupt nephrin targeting to lipid raft microdomains.
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- Human Molecular Genetics, 2003, v. 12, n. 24, p. 3397, doi. 10.1093/hmg/ddg360
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- Article
Glutathione S-transferase omega-1 modifiesage-at-onset of Alzheimer disease and Parkinson disease.
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- Human Molecular Genetics, 2003, v. 12, n. 24, p. 3259, doi. 10.1093/hmg/ddg357
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- Article
Abnormalities of the vitreoretinal interface caused by dysregulated Hedgehog signaling during retinal development.
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- Human Molecular Genetics, 2003, v. 12, n. 24, p. 3269, doi. 10.1093/hmg/ddg356
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- Publication type:
- Article
Hnf6 and Tcf2 (MODY5) are linked in a gene network operating in a precursor cell domain of the embryonic pancreas.
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- Human Molecular Genetics, 2003, v. 12, n. 24, p. 3307, doi. 10.1093/hmg/ddg355
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- Publication type:
- Article
Functional haplotypes of the RET proto-oncogene promoter are associated with Hirschsprung disease (HSCR).
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- Human Molecular Genetics, 2003, v. 12, n. 24, p. 3207, doi. 10.1093/hmg/ddg354
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- Article
Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics.
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- Human Molecular Genetics, 2003, v. 12, n. 24, p. 3369, doi. 10.1093/hmg/ddg353
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- Publication type:
- Article
Dramatic tissue-specific mutation length increases are an early molecular event in Huntington disease pathogenesis.
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- Human Molecular Genetics, 2003, v. 12, n. 24, p. 3359, doi. 10.1093/hmg/ddg352
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- Publication type:
- Article
Promoter-restricted H3 Lys 4 di-methylation is an epigenetic mark for monoallelic expression.
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- Human Molecular Genetics, 2003, v. 12, n. 24, p. 3343, doi. 10.1093/hmg/ddg351
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- Publication type:
- Article
Analysis of the ARMD1 locus: evidence that a mutation in HEMICENTIN-1 is associated with age-related macular degeneration in a large family.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 24, p. 3315, doi. 10.1093/hmg/ddg348
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- Publication type:
- Article
Reduction in frataxin causes progressive accumulation of mitochondrial damage.
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- Human Molecular Genetics, 2003, v. 12, n. 24, p. 3331, doi. 10.1093/hmg/ddg349
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- Article
Classifying the estrogen receptor status of breast cancers by expression profiles reveals a poor prognosis subpopulation exhibiting high expression of the ERBB2 receptor.
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- Human Molecular Genetics, 2003, v. 12, n. 24, p. 3245, doi. 10.1093/hmg/ddg347
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- Publication type:
- Article
Autophagy regulates the processing of amino terminal huntingtin fragments.
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- Human Molecular Genetics, 2003, v. 12, n. 24, p. 3231, doi. 10.1093/hmg/ddg346
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- Publication type:
- Article