Works matching IS 10597794 AND DT 2009 AND VI 30 AND IP 2
Results: 31
The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations.
- Published in:
- 2009
- By:
- Publication type:
- Other
A deep intronic mutation in FGB creates a consensus exonic splicing enhancer motif that results in afibrinogenemia caused by aberrant mRNA splicing, which can be corrected in vitro with antisense oligonucleotide treatment.
- Published in:
- Human Mutation, 2009, v. 30, n. 2, p. 221, doi. 10.1002/humu.20839
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- Publication type:
- Article
Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome.
- Published in:
- Human Mutation, 2009, v. 30, n. 2, p. E330, doi. 10.1002/humu.20900
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- Publication type:
- Article
The MTHFD1 p.Arg653Gln variant alters enzyme function and increases risk for congenital heart defects.
- Published in:
- Human Mutation, 2009, v. 30, n. 2, p. 212, doi. 10.1002/humu.20830
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- Publication type:
- Article
Lynch syndrome deletions in unexpected places.
- Published in:
- Human Mutation, 2009, v. 30, n. 2, p. v, doi. 10.1002/humu.20984
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- Publication type:
- Article
Transcriptional behavior of DMD gene duplications in DMD/BMD males.
- Published in:
- Human Mutation, 2009, v. 30, n. 2, p. E310, doi. 10.1002/humu.20881
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- Publication type:
- Article
Functional characterization of three CYP21A2 sequence variants (p.A265V, p.W302S, p.D322G) employing a yeast co-expression system.
- Published in:
- Human Mutation, 2009, v. 30, n. 2, p. E443, doi. 10.1002/humu.20926
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- Publication type:
- Article
Understanding CNVs and disease: Simply not so simple.
- Published in:
- Human Mutation, 2009, v. 30, n. 2, p. v, doi. 10.1002/humu.20983
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- Publication type:
- Article
Therapeutic strategy to rescue mutation-induced exon skipping in rhodopsin by adaptation of U1 snRNA.
- Published in:
- Human Mutation, 2009, v. 30, n. 2, p. 255, doi. 10.1002/humu.20861
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- Publication type:
- Article
Analysis of mutant DNA polymerase γ in patients with mitochondrial DNA depletion.
- Published in:
- Human Mutation, 2009, v. 30, n. 2, p. 248, doi. 10.1002/humu.20852
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- Publication type:
- Article
Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation.
- Published in:
- Human Mutation, 2009, v. 30, n. 2, p. E386, doi. 10.1002/humu.20921
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- Publication type:
- Article
Therapeutic strategy to rescue mutation-induced exon skipping in rhodopsin by adaptation of U1 snRNA.
- Published in:
- Human Mutation, 2009, v. 30, n. 2, p. 274, doi. 10.1002/humu.20943
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- Publication type:
- Article
Whole genome survey of coding SNPs reveals a reproducible pathway determinant of Parkinson disease.
- Published in:
- Human Mutation, 2009, v. 30, n. 2, p. 228, doi. 10.1002/humu.20840
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- Publication type:
- Article
Update of mutations in the genes encoding the pancreatic beta-cell K<sub>ATP</sub> channel subunits Kir6.2 ( KCNJ11) and sulfonylurea receptor 1 ( ABCC8) in diabetes mellitus and hyperinsulinism.
- Published in:
- 2009
- By:
- Publication type:
- Other
Analysis of the DYSF mutational spectrum in a large cohort of patients.
- Published in:
- Human Mutation, 2009, v. 30, n. 2, p. E345, doi. 10.1002/humu.20910
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- Publication type:
- Article
Pleiotropic functional properties of androgen receptor mutants in prostate cancer.
- Published in:
- Human Mutation, 2009, v. 30, n. 2, p. 145, doi. 10.1002/humu.20848
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- Publication type:
- Article
Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10.
- Published in:
- Human Mutation, 2009, v. 30, n. 2, p. E376, doi. 10.1002/humu.20920
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- Publication type:
- Article
Deletions removing the last exon of TACSTD1 constitute a distinct class of mutations predisposing to Lynch syndrome.
- Published in:
- Human Mutation, 2009, v. 30, n. 2, p. 197, doi. 10.1002/humu.20942
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- Publication type:
- Article
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement.
- Published in:
- Human Mutation, 2009, v. 30, n. 2, p. E432, doi. 10.1002/humu.20924
- By:
- Publication type:
- Article
A gene conversion hotspot in the human growth hormone ( GH1) gene promoter.
- Published in:
- Human Mutation, 2009, v. 30, n. 2, p. 239, doi. 10.1002/humu.20850
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- Publication type:
- Article
Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing.
- Published in:
- Human Mutation, 2009, v. 30, n. 2, p. E320, doi. 10.1002/humu.20888
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- Publication type:
- Article
Emerging themes and new challenges in defining the role of structural variation in human disease.
- Published in:
- Human Mutation, 2009, v. 30, n. 2, p. 135, doi. 10.1002/humu.20843
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- Publication type:
- Article
Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily.
- Published in:
- Human Mutation, 2009, v. 30, n. 2, p. 204, doi. 10.1002/humu.20825
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- Publication type:
- Article
FOXL2 mutations and genomic rearrangements in BPES.
- Published in:
- 2009
- By:
- Publication type:
- Other
COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome.
- Published in:
- Human Mutation, 2009, v. 30, n. 2, p. E395, doi. 10.1002/humu.20887
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- Publication type:
- Article
In Vitro studies of non poly alanine PHOX2B mutations argue against a loss-of-function mechanism for congenital central hypoventilation.
- Published in:
- Human Mutation, 2009, v. 30, n. 2, p. E421, doi. 10.1002/humu.20923
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- Publication type:
- Article
Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease.
- Published in:
- Human Mutation, 2009, v. 30, n. 2, p. 264, doi. 10.1002/humu.20842
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- Publication type:
- Article
Mutational profiling of cancer candidate genes in glioblastoma, melanoma and pancreatic carcinoma reveals a snapshot of their genomic landscapes.
- Published in:
- Human Mutation, 2009, v. 30, n. 2, p. E451, doi. 10.1002/humu.20927
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- Publication type:
- Article
Common variation in GRB-associated Binding Protein 2 (GAB2) and increased risk for Alzheimer dementia.
- Published in:
- Human Mutation, 2009, v. 30, n. 2, p. E338, doi. 10.1002/humu.20909
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- Publication type:
- Article
Exaggerated status of 'novel' and 'pathogenic' mtDNA sequence variants due to inadequate database searches.
- Published in:
- 2009
- By:
- Publication type:
- Other
Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1.
- Published in:
- Human Mutation, 2009, v. 30, n. 2, p. E404, doi. 10.1002/humu.20886
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- Publication type:
- Article