Works matching IS 10597794 AND DT 2011 AND VI 32 AND IP 4
Results: 25
Induction of phenotype modifying cytokines by FERMT1 mutations.
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- Human Mutation, 2011, v. 32, n. 4, p. 397, doi. 10.1002/humu.21449
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- Article
Loss of dermatan-4-sulfotransferase 1 (D4ST1/ CHST14) function represents the first dermatan sulfate biosynthesis defect, 'dermatan sulfate-deficient adducted thumb-clubfoot syndrome'.
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- Human Mutation, 2011, v. 32, n. 4, p. 484, doi. 10.1002/humu.21440
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Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex.
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- Human Mutation, 2011, v. 32, n. 4, p. 424, doi. 10.1002/humu.21451
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New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations.
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- Human Mutation, 2011, v. 32, n. 4, p. 445, doi. 10.1002/humu.21462
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Phylogenetic and in silico structural analysis of the Parkinson disease-related kinase PINK1.
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- Human Mutation, 2011, v. 32, n. 4, p. 369, doi. 10.1002/humu.21444
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Characterization of MSH2 variants by endogenous gene modification in mouse embryonic stem cells.
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- Human Mutation, 2011, v. 32, n. 4, p. 389, doi. 10.1002/humu.21448
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SNCA locus duplication carriers: from genetics to Parkinson disease phenotypes.
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- Human Mutation, 2011, v. 32, n. 4, p. E2079, doi. 10.1002/humu.21459
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Deciphering the colon cancer genes-report of the InSiGHT-Human Variome Project Workshop, UNESCO, Paris 2010.
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- Human Mutation, 2011, v. 32, n. 4, p. 491, doi. 10.1002/humu.21450
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SNP and haplotype analysis reveals new HFE variants associated with iron overload trait.
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- Human Mutation, 2011, v. 32, n. 4, p. E2104, doi. 10.1002/humu.21461
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Human dermal fibroblasts derived from oculodentodigital dysplasia patients suggest that patients may have wound-healing defects.
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- Human Mutation, 2011, v. 32, n. 4, p. 456, doi. 10.1002/humu.21472
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Exploring the functional consequences of genomic variation: The 2010 Human Genome Variation Society Scientific Meeting.
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- Human Mutation, 2011, v. 32, n. 4, p. 486, doi. 10.1002/humu.21443
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Systematic biochemical analysis of somatic missense mutations in DNA polymerase β found in prostate cancer reveal alteration of enzymatic function.
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- Human Mutation, 2011, v. 32, n. 4, p. 415, doi. 10.1002/humu.21465
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From lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes.
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- Human Mutation, 2011, v. 32, n. 4, p. 379, doi. 10.1002/humu.21391
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A novel nonstop mutation in TYMP does not induce nonstop mRNA decay in a MNGIE patient with severe neuropathy.
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- Human Mutation, 2011, v. 32, n. 4, p. E2061, doi. 10.1002/humu.21447
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Prediction of single-nucleotide substitutions that result in exon skipping: identification of a splicing silencer in BRCA1 exon 6.
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- Human Mutation, 2011, v. 32, n. 4, p. 436, doi. 10.1002/humu.21458
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SNP uniqueness problem: a proof-of-principle in HapMap SNPs.
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- Human Mutation, 2011, v. 32, n. 4, p. 355, doi. 10.1002/humu.21429
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Novel C2orf71 mutations account for ∼1% of cases in a large French arRP cohort.
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- Human Mutation, 2011, v. 32, n. 4, p. E2091, doi. 10.1002/humu.21460
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Pure intronic rearrangements leading to aberrant pseudoexon inclusion in dystrophinopathy: a new class of mutations?
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- Human Mutation, 2011, v. 32, n. 4, p. 467, doi. 10.1002/humu.21471
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A novel nonsense mutation in the APTX gene associated with delayed DNA single-strand break removal fails to enhance sensitivity to different genotoxic agents.
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- Human Mutation, 2011, v. 32, n. 4, p. E2118, doi. 10.1002/humu.21464
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Recurrence and variability of germline EPCAM deletions in Lynch syndrome.
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- Human Mutation, 2011, v. 32, n. 4, p. 407, doi. 10.1002/humu.21446
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Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay.
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- Human Mutation, 2011, v. 32, n. 4, p. E2069, doi. 10.1002/humu.21457
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Pseudoexon Activation Caused by Intronic Double-deletion Events in the DMD Gene.
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- Human Mutation, 2011, v. 32, n. 4, p. v, doi. 10.1002/humu.21497
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Performance of mutation pathogenicity prediction methods on missense variants.
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- Human Mutation, 2011, v. 32, n. 4, p. 358, doi. 10.1002/humu.21445
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Human and Mouse Models Suggest that Subclinical Defects of Wound Healing Contribute to Oculodentodigital Dysplasia (ODDD).
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- Human Mutation, 2011, v. 32, n. 4, p. v, doi. 10.1002/humu.21496
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Heterogeneity in the processing of CLCN5 mutants related to Dent disease.
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- Human Mutation, 2011, v. 32, n. 4, p. 476, doi. 10.1002/humu.21467
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- Article