Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families.
about
ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6).HEATR2 plays a conserved role in assembly of the ciliary motile apparatusRP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophyMutation in PHC1 implicates chromatin remodeling in primary microcephaly pathogenesisMutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathyMutations in HPSE2 cause urofacial syndromeExome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growthHomozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontiaHACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome.A substitution mutation in cardiac ubiquitin ligase, FBXO32, is associated with an autosomal recessive form of dilated cardiomyopathyMutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathyLRIG2 mutations cause urofacial syndromeMutations in LRPAP1 are associated with severe myopia in humansIFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndromeMutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and MiceIdentification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfectaBiallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in InfancyWhole exome sequencing identifies LRP1 as a pathogenic gene in autosomal recessive keratosis pilaris atrophicansTLE6 mutation causes the earliest known human embryonic lethality.Autozygosity mapping with exome sequence data.Simple and efficient identification of rare recessive pathologically important sequence variants from next generation exome sequence data.Abolished InsP3R2 function inhibits sweat secretion in both humans and mice.Rapid Detection of Rare Deleterious Variants by Next Generation Sequencing with Optional Microarray SNP Genotype Data.Mutation in MEOX1 gene causes a recessive Klippel-Feil syndrome subtype.Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia.Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.Homozygosity mapping on a single patient: identification of homozygous regions of recent common ancestry by using population dataA truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis.DominantMapper: rule-based analysis of SNP data for rapid mapping of dominant diseases in related nuclear families.Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria.Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiencyMutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta.Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes.Genotyping of fanconi anemia patients by whole exome sequencing: advantages and challenges.TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction.Mutations in Frizzled 6 cause isolated autosomal-recessive nail dysplasia.Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte.Variation in DNAH1 may contribute to primary ciliary dyskinesiaC19orf12 mutation leads to a pallido-pyramidal syndrome.
P2860
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P2860
Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families.
description
2006 nî lūn-bûn
@nan
2006 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Interactive visual analysis of ...... ng in consanguineous families.
@ast
Interactive visual analysis of ...... ng in consanguineous families.
@en
Interactive visual analysis of ...... ng in consanguineous families.
@en-gb
type
label
Interactive visual analysis of ...... ng in consanguineous families.
@ast
Interactive visual analysis of ...... ng in consanguineous families.
@en
Interactive visual analysis of ...... ng in consanguineous families.
@en-gb
prefLabel
Interactive visual analysis of ...... ng in consanguineous families.
@ast
Interactive visual analysis of ...... ng in consanguineous families.
@en
Interactive visual analysis of ...... ng in consanguineous families.
@en-gb
P50
P356
P1433
P1476
Interactive visual analysis of ...... ng in consanguineous families.
@en
P2093
Graham R Taylor
Kimberley J Flintoff
P304
P356
10.1002/HUMU.20383
P577
2006-10-01T00:00:00Z