Automated splicing mutation analysis by information theory.
about
Sequence space coverage, entropy of genomes and the potential to detect non-human DNA in human samplesDisruption of PTPRO causes childhood-onset nephrotic syndromeRXRA gene variations influence Alzheimer's disease risk and cholesterol metabolismIminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transportersRecent insights into the Smith-Lemli-Opitz syndrome.Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone developmentA LAD-III syndrome is associated with defective expression of the Rap-1 activator CalDAG-GEFI in lymphocytes, neutrophils, and plateletsTandem machine learning for the identification of genes regulated by transcription factors.In silico tools for splicing defect prediction: a survey from the viewpoint of end usersGuidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variantsPIN1 gene variants in Alzheimer's disease.Multiple splice defects in ABCA1 cause low HDL-C in a family with hypoalphalipoproteinemia and premature coronary disease.Prediction and assessment of splicing alterations: implications for clinical testing.Novel mutations in MERTK associated with childhood onset rod-cone dystrophyGermline MLH1 and MSH2 mutational spectrum including frequent large genomic aberrations in Hungarian hereditary non-polyposis colorectal cancer families: implications for genetic testingIdentification of activated cryptic 5' splice sites using structure profiles and odds measure.PMD patient mutations reveal a long-distance intronic interaction that regulates PLP1/DM20 alternative splicing.Categorization of 77 dystrophin exons into 5 groups by a decision tree using indexes of splicing regulatory factors as decision markers.Evaluation of SPARC as a candidate gene of juvenile-onset primary open-angle glaucoma by mutation and copy number analysesThe soluble epoxide hydrolase gene harbors sequence variation associated with susceptibility to and protection from incident ischemic stroke.Impact of BRCA1 and BRCA2 variants on splicing: clues from an allelic imbalance study.Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome.Variation Interpretation Predictors: Principles, Types, Performance, and Choice.ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal.Comparative in vitro and in silico analyses of variants in splicing regions of BRCA1 and BRCA2 genes and characterization of novel pathogenic mutations.Low-frequency intermediate penetrance variants in the ROCK1 gene predispose to Tetralogy of FallotManitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.Human Splicing Finder: an online bioinformatics tool to predict splicing signals.Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.Analysis of mutations in 7 genes associated with neuronal excitability and synaptic transmission in a cohort of children with non-syndromic infantile epileptic encephalopathy.Identification of germline alterations of the mad homology 2 domain of SMAD3 and SMAD4 from the Ontario site of the breast cancer family registry (CFR)Variability of CYP2J2 expression in human fetal tissues.VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: the first description of a VAX1 phenotype in humans.Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease.Normal and abnormal mechanisms of gene splicing and relevance to inherited skin diseasesA novel splice site mutation of CDHR1 in a consanguineous Israeli Christian Arab family segregating autosomal recessive cone-rod dystrophy.Defective splicing, disease and therapy: searching for master checkpoints in exon definition.PHEX gene mutations and genotype-phenotype analysis of Korean patients with hypophosphatemic rickets.Sequence variations of GRM6 in patients with high myopia.Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients' phenotypes.
P2860
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P2860
Automated splicing mutation analysis by information theory.
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年学术文章
@wuu
2005年学术文章
@zh
2005年学术文章
@zh-cn
2005年学术文章
@zh-hans
2005年学术文章
@zh-my
2005年学术文章
@zh-sg
2005年學術文章
@yue
2005年學術文章
@zh-hant
name
Automated splicing mutation analysis by information theory.
@en
Automated splicing mutation analysis by information theory.
@nl
type
label
Automated splicing mutation analysis by information theory.
@en
Automated splicing mutation analysis by information theory.
@nl
prefLabel
Automated splicing mutation analysis by information theory.
@en
Automated splicing mutation analysis by information theory.
@nl
P356
P1433
P1476
Automated splicing mutation analysis by information theory.
@en
P2093
Vijay K Nalla
P304
P356
10.1002/HUMU.20151
P577
2005-04-01T00:00:00Z