Fragile-X syndrome: unique genetics of the heritable unstable element
about
Simple tandem DNA repeats and human genetic diseaseExpansion of the fragile X CGG repeat in females with premutation or intermediate allelesTechnical standards and guidelines for fragile X: the first of a series of disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics. Quality Assurance Subcommittee ofUnstable mutations in the FMR1 gene and the phenotypesMolecular Correlates and Recent Advancements in the Diagnosis and Screening of FMR1-Related DisordersAdvanced technologies for the molecular diagnosis of fragile X syndromeInstability versus predictability: the molecular diagnosis of myotonic dystrophy.Inheritance of the fragile X syndrome: size of the fragile X premutation is a major determinant of the transition to full mutationThe fragile X syndrome: no evidence for any recent mutations.Gametic but not somatic instability of CAG repeat length in Huntington's disease.Sperm DNA analysis in a Friedreich ataxia premutation carrier suggests both meiotic and mitotic expansion in the FRDA gene.FMR1 CGG-repeat instability in single sperm and lymphocytes of fragile-X premutation males.Genetic analysis of children of atomic bomb survivors.Linkage disequilibrium between the fragile X mutation and two closely linked CA repeats suggests that fragile X chromosomes are derived from a small number of founder chromosomes.Influence of sex of the transmitting parent as well as of parental allele size on the CTG expansion in myotonic dystrophy (DM).Genotype-phenotype relationships in fragile X syndrome: a family study.Evidence that methylation of the FMR-I locus is responsible for variable phenotypic expression of the fragile X syndrome.Quantitative comparison of FMR1 gene expression in normal and premutation allelesExpansion of the CGG repeat in fragile X in the FMR1 gene depends on the sex of the offspring.Population dynamics of a meiotic/mitotic expansion model for the fragile X syndromeAn atypical case of fragile X syndrome caused by a deletion that includes the FMR1 geneFamilial transmission of the FMR1 CGG repeat.Gonosomal mosaicism in myotonic dystrophy patients: involvement of mitotic events in (CTG)n repeat variation and selection against extreme expansion in sperm.A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: the first 2,253 cases.Allelic instability in mitosis: a unified model for dominant disordersElevated frequency of microsatellite mutations in TK6 human lymphoblast clones selected for mutations at the thymidine kinase locusOffering fragile X syndrome carrier screening: a prospective mixed-methods observational study comparing carrier screening of pregnant and non-pregnant women in the general populationEffect of in vitro promoter methylation and CGG repeat expansion on FMR-1 expression.Survey of the fragile X syndrome CGG repeat and the short-tandem-repeat and single-nucleotide-polymorphism haplotypes in an African American population.Reverse mutation in fragile X syndromeAnticipation legitimized: unstable DNA to the rescue.Of Men and Mice: Modeling the Fragile X Syndrome.
P2860
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P2860
Fragile-X syndrome: unique genetics of the heritable unstable element
description
1992 nî lūn-bûn
@nan
1992 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի մայիսին հրատարակված գիտական հոդված
@hy
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
name
Fragile-X syndrome: unique genetics of the heritable unstable element
@ast
Fragile-X syndrome: unique genetics of the heritable unstable element
@en
type
label
Fragile-X syndrome: unique genetics of the heritable unstable element
@ast
Fragile-X syndrome: unique genetics of the heritable unstable element
@en
prefLabel
Fragile-X syndrome: unique genetics of the heritable unstable element
@ast
Fragile-X syndrome: unique genetics of the heritable unstable element
@en
P2093
P2860
P1476
Fragile-X syndrome: unique genetics of the heritable unstable element
@en
P2093
Donnelly A
Pritchard M
P2860
P304
P407
P577
1992-05-01T00:00:00Z