Works matching IS 10597794 AND DT 2012 AND VI 33 AND IP 1
Results: 34
A database of genetic variants in microRNA genes and their putative functional roles in gene regulation.
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- Human Mutation, 2012, v. 33, n. 1, p. vii, doi. 10.1002/humu.22567
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RP1 and autosomal dominant rod-cone dystrophy: Novel mutations, a review of published variants, and genotype-phenotype correlation.
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- Human Mutation, 2012, v. 33, n. 1, p. 73, doi. 10.1002/humu.21640
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Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.
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- Human Mutation, 2012, v. 33, n. 1, p. 144, doi. 10.1002/humu.21611
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Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia.
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- Human Mutation, 2012, v. 33, n. 1, p. 198, doi. 10.1002/humu.21632
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Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.
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- Human Mutation, 2012, v. 33, n. 1, p. 165, doi. 10.1002/humu.21614
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Menstrual cycle-dependent febrile episode mediated by sequence-specific repression of poly(ADP-ribose) polymerase-1 on the transcription of the human serotonin receptor 1A gene.
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- Human Mutation, 2012, v. 33, n. 1, p. 209, doi. 10.1002/humu.21622
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Molecular bypass switches for the targeted correction of ATM mutations.
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- Human Mutation, 2012, v. 33, n. 1, p. vii, doi. 10.1002/humu.22566
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Two mutations in human BICC1 resulting in Wnt pathway hyperactivity associated with cystic renal dysplasia.
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- Human Mutation, 2012, v. 33, n. 1, p. 86, doi. 10.1002/humu.21610
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Novel FAM20A mutations in hypoplastic amelogenesis imperfecta.
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- Human Mutation, 2012, v. 33, n. 1, p. 91, doi. 10.1002/humu.21621
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Somatic mutations in the chromatin remodeling gene ARID1A occur in several tumor types.
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- Human Mutation, 2012, v. 33, n. 1, p. 100, doi. 10.1002/humu.21633
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Variants in activators and downstream targets of ATM, radiation exposure, and contralateral breast cancer risk in the WECARE study.
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- Human Mutation, 2012, v. 33, n. 1, p. 158, doi. 10.1002/humu.21604
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Analysis of RAD51C germline mutations in high-risk breast and ovarian cancer families and ovarian cancer patients.
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- Human Mutation, 2012, v. 33, n. 1, p. 95, doi. 10.1002/humu.21625
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Sixteen years and counting: The current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias.
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- Human Mutation, 2012, v. 33, n. 1, p. 29, doi. 10.1002/humu.21636
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Genotype-phenotype correlation in primary carnitine deficiency.
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- Human Mutation, 2012, v. 33, n. 1, p. 118, doi. 10.1002/humu.21607
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Classification of missense substitutions in the BRCA genes: A database dedicated to Ex-UVs.
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- Human Mutation, 2012, v. 33, n. 1, p. 22, doi. 10.1002/humu.21629
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Mutational spectrum in the Ca<sup>2+</sup>-activated cation channel gene TRPM4 in patients with cardiac conductance disturbances.
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- Human Mutation, 2012, v. 33, n. 1, p. 109, doi. 10.1002/humu.21599
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A novel form of chondrocyte stress is triggered by a COMP mutation causing pseudoachondroplasia.
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- Human Mutation, 2012, v. 33, n. 1, p. 218, doi. 10.1002/humu.21631
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Rapid and efficient human mutation detection using a bench-top next-generation DNA sequencer.
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- Human Mutation, 2012, v. 33, n. 1, p. 281, doi. 10.1002/humu.21602
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Fine-tiling array CGH to improve diagnostics for α- and β-thalassemia rearrangements.
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- Human Mutation, 2012, v. 33, n. 1, p. 272, doi. 10.1002/humu.21612
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Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
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- Human Mutation, 2012, v. 33, n. 1, p. 42, doi. 10.1002/humu.21624
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A Recurrent loss-of-function alanyl-tRNA synthetase ( AARS ) mutation in patients with charcot-marie-tooth disease type 2N (CMT2N).
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- Human Mutation, 2012, v. 33, n. 1, p. 244, doi. 10.1002/humu.21635
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Evidence of constitutional MLH1 epimutation associated to transgenerational inheritance of cancer susceptibility.
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- Human Mutation, 2012, v. 33, n. 1, p. 180, doi. 10.1002/humu.21617
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Mandatory variant submission-Our experiences.
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- Human Mutation, 2012, v. 33, n. 1, p. 1, doi. 10.1002/humu.21657
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Carboxypeptidase A6 gene ( CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsy.
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- Human Mutation, 2012, v. 33, n. 1, p. 124, doi. 10.1002/humu.21613
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ENIGMA-Evidence-based network for the interpretation of germline mutant alleles: An international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes.
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- Human Mutation, 2012, v. 33, n. 1, p. 2, doi. 10.1002/humu.21628
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Competitive amplification of differentially melting amplicons (CADMA) enables sensitive and direct detection of all mutation types by high-resolution melting analysis.
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- Human Mutation, 2012, v. 33, n. 1, p. 264, doi. 10.1002/humu.21598
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Functional characterization of splicing and ligand-binding domain variants in the LDL receptor.
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- Human Mutation, 2012, v. 33, n. 1, p. 232, doi. 10.1002/humu.21630
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Genome-wide identification of SNPs in microRNA genes and the SNP effects on microRNA target binding and biogenesis.
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- Human Mutation, 2012, v. 33, n. 1, p. 254, doi. 10.1002/humu.21641
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Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum.
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- Human Mutation, 2012, v. 33, n. 1, p. 64, doi. 10.1002/humu.21639
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Usher syndrome type 2 caused by activation of an USH2A pseudoexon: Implications for diagnosis and therapy.
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- Human Mutation, 2012, v. 33, n. 1, p. 104, doi. 10.1002/humu.21634
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The large-scale distribution of somatic mutations in cancer genomes.
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- Human Mutation, 2012, v. 33, n. 1, p. 136, doi. 10.1002/humu.21616
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A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).
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- Human Mutation, 2012, v. 33, n. 1, p. 8, doi. 10.1002/humu.21627
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SpliceAid 2: A database of human splicing factors expression data and RNA target motifs.
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- Human Mutation, 2012, v. 33, n. 1, p. 81, doi. 10.1002/humu.21609
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Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3.
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- Human Mutation, 2012, v. 33, n. 1, p. 189, doi. 10.1002/humu.21623
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