Found: 26
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Diagnostic challenges due to phenocopies: lessons from Multiple Endocrine Neoplasia type1 (MEN1).
- Published in:
- Human Mutation, 2010, v. 31, n. 1, p. E1089, doi. 10.1002/humu.21170
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- Publication type:
- Article
Identification of a DMBT1 polymorphism associated with increased breast cancer risk and decreased promoter activity.
- Published in:
- Human Mutation, 2010, v. 31, n. 1, p. 60, doi. 10.1002/humu.21134
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- Publication type:
- Article
Allelic imbalance (AI) identifies novel tissue-specific cis-regulatory variation for human UGT2B15.
- Published in:
- Human Mutation, 2010, v. 31, n. 1, p. 99, doi. 10.1002/humu.21145
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- Publication type:
- Article
A new locus-specific database (LSDB) for mutations in the folliculin ( FLCN) gene.
- Published in:
- 2010
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- Publication type:
- Other
Evaluation of SNPs in miR-146a, miR196a2 and miR-499 as low-penetrance alleles in German and Italian familial breast cancer cases.
- Published in:
- Human Mutation, 2010, v. 31, n. 1, p. E1052, doi. 10.1002/humu.21141
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- Publication type:
- Article
Identifying functional promoter SNPs using allelic imbalance.
- Published in:
- Human Mutation, 2010, v. 31, n. 1, p. v, doi. 10.1002/humu.21174
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- Publication type:
- Article
Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations.
- Published in:
- Human Mutation, 2010, v. 31, n. 1, p. E1071, doi. 10.1002/humu.21167
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- Publication type:
- Article
dbSNP in the detail and copy number complexities.
- Published in:
- Human Mutation, 2010, v. 31, n. 1, p. 2, doi. 10.1002/humu.21149
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- Publication type:
- Article
Identification of novel truncated androgen receptor (AR) mutants including unreported pre-mRNA splicing variants in the 22Rv1 hormone-refractory prostate cancer (PCa) cell line.
- Published in:
- Human Mutation, 2010, v. 31, n. 1, p. 74, doi. 10.1002/humu.21138
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- Publication type:
- Article
Crigler-Najjar syndrome in The Netherlands: Identification of four novel UGT1A1 alleles, genotype-phenotype correlation, and functional analysis of 10 missense mutants.
- Published in:
- Human Mutation, 2010, v. 31, n. 1, p. 52, doi. 10.1002/humu.21133
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- Publication type:
- Article
OBSL1 mutations in 3-M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levels.
- Published in:
- Human Mutation, 2010, v. 31, n. 1, p. 20, doi. 10.1002/humu.21150
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- Publication type:
- Article
A rare SMN2 variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy.
- Published in:
- Human Mutation, 2010, v. 31, n. 1, p. E1110, doi. 10.1002/humu.21173
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- Publication type:
- Article
Single nucleotide differences (SNDs) in the dbSNP database may lead to errors in genotyping and haplotyping studies.
- Published in:
- Human Mutation, 2010, v. 31, n. 1, p. 67, doi. 10.1002/humu.21137
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- Publication type:
- Article
Response to: BAK1 gene variation and abdominal aortic aneurysms-Variants are likely due to sequencing of a processed gene on chromosome 20.
- Published in:
- Human Mutation, 2010, v. 31, n. 1, p. 110, doi. 10.1002/humu.21148
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- Publication type:
- Article
Analysis of human CYP1A1 and CYP1A2 genes and their shared bidirectional promoter in eight world populations.
- Published in:
- Human Mutation, 2010, v. 31, n. 1, p. 27, doi. 10.1002/humu.21132
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- Publication type:
- Article
Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD.
- Published in:
- Human Mutation, 2010, v. 31, n. 1, p. 41, doi. 10.1002/humu.21136
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- Publication type:
- Article
An updated and upgraded L1CAM mutation database.
- Published in:
- 2010
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- Publication type:
- Other
ADAMTS13 mutations and polymorphisms in congenital thrombotic thrombocytopenic purpura.
- Published in:
- 2010
- By:
- Publication type:
- Other
BAK1 gene variation and abdominal aortic aneurysms-Variants are likely due to sequencing of a processed gene on chromosome 20.
- Published in:
- Human Mutation, 2010, v. 31, n. 1, p. 108, doi. 10.1002/humu.21147
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- Publication type:
- Article
Spectrum and consequences of SMC1A mutations: The unexpected involvement of a core component of cohesin in human disease.
- Published in:
- 2010
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- Publication type:
- Other
RAMEDIS: a comprehensive information system for variations and corresponding phenotypes of rare metabolic diseases.
- Published in:
- 2010
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- Publication type:
- Other
Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domains.
- Published in:
- Human Mutation, 2010, v. 31, n. 1, p. E1021, doi. 10.1002/humu.21131
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- Publication type:
- Article
A specific mutation in the distant sonic hedgehog ( SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb.
- Published in:
- Human Mutation, 2010, v. 31, n. 1, p. 81, doi. 10.1002/humu.21142
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- Publication type:
- Article
Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients.
- Published in:
- Human Mutation, 2010, v. 31, n. 1, p. E1058, doi. 10.1002/humu.21153
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- Publication type:
- Article
Database overkill.
- Published in:
- Human Mutation, 2010, v. 31, n. 1, p. 1, doi. 10.1002/humu.21164
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- Publication type:
- Article
Common pathological mutations in PQBP1 induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exon.
- Published in:
- Human Mutation, 2010, v. 31, n. 1, p. 90, doi. 10.1002/humu.21146
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- Publication type:
- Article