Works matching IS 09646906 AND DT 2004 AND VI 13 AND IP 17
Results: 15
Gene-Ontology analysis reveals association of tissue-specific 5′ CpG-island genes with development and embryogenesis.
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- Human Molecular Genetics, 2004, v. 13, n. 17, p. 1969, doi. 10.1093/hmg/ddh207
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- Article
The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype.
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- Human Molecular Genetics, 2004, v. 13, n. 17, p. 1913, doi. 10.1093/hmg/ddh206
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- Article
Localization of 4q35.2 to the nuclear periphery: is FSHD a nuclear envelope disease?
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- Human Molecular Genetics, 2004, v. 13, n. 17, p. 1857, doi. 10.1093/hmg/ddh205
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- Article
Defects in neuromuscular junction structure in dystrophic muscle are corrected by expression of a NOS transgene in dystrophin-deficient muscles, but not in muscles lacking α- and β1-syntrophins.
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- Human Molecular Genetics, 2004, v. 13, n. 17, p. 1873, doi. 10.1093/hmg/ddh204
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- Article
Effects on fear reactivity in XO mice are due to haploinsufficiency of a non-PAR X gene: implications for emotional function in Turner's syndrome.
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- Human Molecular Genetics, 2004, v. 13, n. 17, p. 1849, doi. 10.1093/hmg/ddh203
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Enhancing linkage analysis of complex disorders: an evaluation of high-density genotyping.
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- Human Molecular Genetics, 2004, v. 13, n. 17, p. 1943, doi. 10.1093/hmg/ddh202
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- Article
Affected sib-pair analysis of the contribution of HLA class I and class II loci to development of cervical cancer.
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- Human Molecular Genetics, 2004, v. 13, n. 17, p. 1951, doi. 10.1093/hmg/ddh201
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- Article
Strain-specific variants of the mouse Cftr promoter region reveal transcriptional regulatory elements.
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- Human Molecular Genetics, 2004, v. 13, n. 17, p. 1933, doi. 10.1093/hmg/ddh200
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- Article
Independent effects of APOE on cholesterol metabolism and brain Aβ levels in an Alzheimer disease mouse model.
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- Human Molecular Genetics, 2004, v. 13, n. 17, p. 1959, doi. 10.1093/hmg/ddh199
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- Article
Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degeneration.
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- Human Molecular Genetics, 2004, v. 13, n. 17, p. 1893, doi. 10.1093/hmg/ddh198
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- Article
Human SCO1 and SCO2 have independent, cooperative functions in copper delivery to cytochrome c oxidase.
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- Human Molecular Genetics, 2004, v. 13, n. 17, p. 1839, doi. 10.1093/hmg/ddh197
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- Article
Single nucleotide polymorphisms in protein tyrosine phosphatase 1β (PTPN1) are associated with essential hypertension and obesity.
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- Human Molecular Genetics, 2004, v. 13, n. 17, p. 1885, doi. 10.1093/hmg/ddh196
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- Article
Comprehensive whole genome array CGH profiling of mantle cell lymphoma model genomes.
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- Human Molecular Genetics, 2004, v. 13, n. 17, p. 1827, doi. 10.1093/hmg/ddh195
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- Article
Evidence of common and specific genetic effects: association of the muscarinic acetylcholine receptor M2 (CHRM2) gene with alcohol dependence and major depressive syndrome.
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- Human Molecular Genetics, 2004, v. 13, n. 17, p. 1903, doi. 10.1093/hmg/ddh194
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- Article
Association and regulation of the BLM helicase by the telomere proteins TRF1 and TRF2.
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- Human Molecular Genetics, 2004, v. 13, n. 17, p. 1919, doi. 10.1093/hmg/ddh193
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- Article