Works matching IS 09646906 AND DT 2000 AND VI 9 AND IP 18
Results: 20
Nonfibrillar diffuse amyloid deposition due to a γ [sub 42] -secretase site mutation points to an essential role for N-truncated A β [sub 42] in Alzheimer's disease.
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- Human Molecular Genetics, 2000, v. 9, n. 18, p. 2589, doi. 10.1093/hmg/9.18.2589
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- Article
Replication protein A1 reduces transcription of the endothelial nitric oxide synthase gene containing a -786T →C mutation associated with coronary spastic angina.
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- Human Molecular Genetics, 2000, v. 9, n. 18, p. 2629, doi. 10.1093/hmg/9.18.2629
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Novel mutations in lysosomal neuraminidase identify functional domains and determine clinical severity in sialidosis.
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- Human Molecular Genetics, 2000, v. 9, n. 18, p. 2715, doi. 10.1093/hmg/9.18.2715
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Sequence and functional comparison in the Beckwith-Wiedemann region: implications for a novel imprinting centre and extended imprinting.
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- Human Molecular Genetics, 2000, v. 9, n. 18, p. 2691, doi. 10.1093/hmg/9.18.2691
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The Fanconi anemia protein FANCF forms a nuclear complex with FANCA, FANCC and FANCG.
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- Human Molecular Genetics, 2000, v. 9, n. 18, p. 2665, doi. 10.1093/hmg/9.18.2665
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A human PKD1 transgene generates functional polycystin-1 in mice and is associated with a cystic phenotype.
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- Human Molecular Genetics, 2000, v. 9, n. 18, p. 2617, doi. 10.1093/hmg/9.18.2617
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- Article
Expression of mutant α -synuclein causes increased susceptibility to dopamine toxicity.
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- Human Molecular Genetics, 2000, v. 9, n. 18, p. 2683, doi. 10.1093/hmg/9.18.2683
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Integrated analysis of sequence evolution and population history using hypervariable compound haplotypes.
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- Human Molecular Genetics, 2000, v. 9, n. 18, p. 2675, doi. 10.1093/hmg/9.18.2675
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Polycystin-1, the product of the polycystic kidney disease 1 gene, co-localizes with desmosomes in MDCK cells.
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- Human Molecular Genetics, 2000, v. 9, n. 18, p. 2743, doi. 10.1093/hmg/9.18.2743
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- Article
A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome.
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- Human Molecular Genetics, 2000, v. 9, n. 18, p. 2733, doi. 10.1093/hmg/9.18.2733
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- Article
TRF1 is a critical trans -acting factor required for de novo telomere formation in human cells.
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- Human Molecular Genetics, 2000, v. 9, n. 18, p. 2639, doi. 10.1093/hmg/9.18.2639
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- Article
Large-scale methylation analysis of human genomic DNA reveals tissue-specific differences between the methylation profiles of genes and pseudogenes.
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- Human Molecular Genetics, 2000, v. 9, n. 18, p. 2651, doi. 10.1093/hmg/9.18.2651
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- Article
Surfactant proteins A and B as interactive genetic determinants of neonatal respiratory distress syndrome.
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- Human Molecular Genetics, 2000, v. 9, n. 18, p. 2751, doi. 10.1093/hmg/9.18.2751
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- Article
Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma.
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- Human Molecular Genetics, 2000, v. 9, n. 18, p. 2761, doi. 10.1093/hmg/9.18.2761
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- Article
Alu-mediated PCR artifacts and the constitutional t(11;22) breakpoint.
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- Human Molecular Genetics, 2000, v. 9, n. 18, p. 2727, doi. 10.1093/hmg/9.18.2727
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- Article
Escape from gene silencing in ICF syndrome: evidence for advanced replication time as a major determinant.
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- Human Molecular Genetics, 2000, v. 9, n. 18, p. 2575, doi. 10.1093/hmg/9.18.2575
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- Article
Sequence interruptions confer differential stability at microsatellite alleles in mismatch repair-deficient cells.
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- Human Molecular Genetics, 2000, v. 9, n. 18, p. 2707, doi. 10.1093/hmg/9.18.2707
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- Article
Co-expression of mutated and normal adrenoleukodystrophy protein reduces protein function: implications for gene therapy of X-linked adrenoleukodystrophy.
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- Human Molecular Genetics, 2000, v. 9, n. 18, p. 2609, doi. 10.1093/hmg/9.18.2609
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- Article
An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor.
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- Human Molecular Genetics, 2000, v. 9, n. 18, p. 2599, doi. 10.1093/hmg/9.18.2599
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Gender of the embryo contributes to CAG instability in transgenic mice containing a Huntington's disease gene.
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- Human Molecular Genetics, 2000, v. 9, n. 18, p. 2767, doi. 10.1093/hmg/9.18.2767
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- Article