Works matching IS 10597794 AND DT 2006 AND VI 27 AND IP 2
Results: 19
DHPLC-based mutation analysis of ENG and ALK-1 genes in HHT Italian population.
- Published in:
- Human Mutation, 2006, v. 27, n. 2, p. 213, doi. 10.1002/humu.9400
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- Publication type:
- Article
Detection of heterozygous SALL1 deletions by quantitative real time PCR proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome.
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- Human Mutation, 2006, v. 27, n. 2, p. 211, doi. 10.1002/humu.9396
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- Article
Functional assays testing pathogenicity of 14 cystathionine-beta synthase mutations.
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- Human Mutation, 2006, v. 27, n. 2, p. 211, doi. 10.1002/humu.9395
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- Article
Novel PRG4 mutations underlie CACP in Saudi families.
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- Human Mutation, 2006, v. 27, n. 2, p. 213, doi. 10.1002/humu.9399
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- Publication type:
- Article
Different genetic pathways in the development of periocular sebaceous gland carcinomas in presumptive Muir-Torre syndrome patients.
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- Human Mutation, 2006, v. 27, n. 2, p. 155, doi. 10.1002/humu.20281
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- Article
Mutations of the TGF-β type II receptor BMPR2 in pulmonary arterial hypertension.
- Published in:
- 2006
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- Publication type:
- Other
Nonsynonymous SNPs: validation characteristics, derived allele frequency patterns, and suggestive evidence for natural selection.
- Published in:
- Human Mutation, 2006, v. 27, n. 2, p. 173, doi. 10.1002/humu.20289
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- Article
Novel inactivating mutations of FANCC in Brazilian patients with Fanconi anemia.
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- Human Mutation, 2006, v. 27, n. 2, p. 214, doi. 10.1002/humu.9402
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- Article
BMPR2 gene rearrangements account for a significant proportion of mutations in familial and idiopathic pulmonary arterial hypertension.
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- Human Mutation, 2006, v. 27, n. 2, p. 212, doi. 10.1002/humu.9398
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- Publication type:
- Article
Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing.
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- Human Mutation, 2006, v. 27, n. 2, p. 145, doi. 10.1002/humu.20280
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- Publication type:
- Article
Predicting the transactivation activity of p53 missense mutants using a four-body potential score derived from Delaunay tessellations.
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- Human Mutation, 2006, v. 27, n. 2, p. 163, doi. 10.1002/humu.20284
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- Publication type:
- Article
Validation of the use of DNA pools and primer extension in association studies of sporadic colorectal cancer for selection of candidate SNPs.
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- Human Mutation, 2006, v. 27, n. 2, p. 187, doi. 10.1002/humu.20248
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- Article
Mutation spectra of ABCC8 gene in Spanish patients with hyperinsulinism of infancy (HI).
- Published in:
- Human Mutation, 2006, v. 27, n. 2, p. 214, doi. 10.1002/humu.9401
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- Publication type:
- Article
A rare missense mutation in a type 2 diabetes patient decreases the transcriptional activity of human sterol regulatory element binding protein-1.
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- Human Mutation, 2006, v. 27, n. 2, p. 212, doi. 10.1002/humu.9397
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- Publication type:
- Article
Paternal uniparental isodisomy of the entire chromosome 3 revealed in a person with no apparent phenotypic disorders.
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- Human Mutation, 2006, v. 27, n. 2, p. 133, doi. 10.1002/humu.20302
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- Publication type:
- Article
Microelectronic DNA chip for hereditary hyperferritinemia cataract syndrome, a model for large-scale analysis of disorders of iron metabolism.
- Published in:
- Human Mutation, 2006, v. 27, n. 2, p. 201, doi. 10.1002/humu.20294
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- Publication type:
- Article
Altered transmission of maternal angiotensin II receptor haplotypes in fetal growth restriction.
- Published in:
- Human Mutation, 2006, v. 27, n. 2, p. 138, doi. 10.1002/humu.20265
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- Publication type:
- Article
Prioritizing regions of candidate genes for efficient mutation screening.
- Published in:
- 2006
- By:
- Publication type:
- Other
Effect of the codon 72 polymorphism (c.215G>C, p.Arg72Pro) in combination with somatic sequence variants in the TP53 gene on survival in patients with advanced ovarian carcinoma.
- Published in:
- Human Mutation, 2006, v. 27, n. 2, p. 209, doi. 10.1002/humu.20298
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- Publication type:
- Article