Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation.
about
The fragile-X premutation: a maturing perspective.Simple tandem DNA repeats and human genetic diseaseTechnical 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 ofA third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patientsA gene for dominant nonspecific X-linked mental retardation is located in Xq28Cytogenetic abnormalities and fragile-X syndrome in Autism Spectrum DisorderRepeat-mediated genetic and epigenetic changes at the FMR1 locus in the Fragile X-related disordersDevelopment of Genetic Testing for Fragile X Syndrome and Associated Disorders, and Estimates of the Prevalence of FMR1 Expansion MutationsMolecular Correlates and Recent Advancements in the Diagnosis and Screening of FMR1-Related DisordersModeling Fragile X Syndrome Using Human Pluripotent Stem CellsGenetic & epigenetic approach to human obesityRefined 2.7 centimorgan locus in Xp21.3-22.1 for a nonspecific X-linked mental retardation gene (MRX54)The fragile X gene and its functionMethylation-dependent gene silencing induced by interleukin 1beta via nitric oxide productionThe fragile X mental retardation 1 gene (FMR1): historical perspective, phenotypes, mechanism, pathology, and epidemiologyEmotion potentiated startle in fragile X syndrome.The DNA laboratory and neurological practice.Evidence for a new X-linked mental retardation gene in Xp21-Xp22: clinical and molecular data in one family.Molecular and cellular genetics of fragile X syndrome.Fragile X syndrome: a review of clinical and molecular diagnoses.Experience with direct molecular diagnosis of fragile X.Difficult diagnosis of the fragile X syndrome made possible by direct detection of DNA mutations.Comparison of the myotonic dystrophy associated CTG repeat in European and Japanese populationsPresymptomatic diagnosis of myotonic dystrophyInheritance of the fragile X syndrome: size of the fragile X premutation is a major determinant of the transition to full mutationFrequent small amplifications in the FMR-1 gene in fra(X) families: limits to the diagnosis of 'premutations'Direct analysis of the FMR-1 gene provides an explanation for an exceptional case of a fragile X negative, mentally retarded male in a fragile X family.The fragile X syndrome: no evidence for any recent mutations.Guidelines for the diagnosis of fragile X syndrome. National Fragile X FoundationPopulation studies of the fragile X: a molecular approach.Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotypeFMR1 fully expanded mutation with minimal methylation in a high functioning fragile X male.Variable FMR1 gene methylation of large expansions leads to variable phenotype in three males from one fragile X family.Fragile X syndrome is less common than previously estimated.Clinical, cytogenetic, and molecular analysis of three families with FRAXERapid antibody test for prenatal diagnosis of fragile X syndrome on amniotic fluid cells: a new appraisalThe effect of FMR1 CGG repeat interruptions on mutation frequency as measured by sperm typing.DNA testing for fragile X syndrome: implications for parents and family.Unusual mutations in high functioning fragile X males: apparent instability of expanded unmethylated CGG repeats.Studies of FRAXA and FRAXE in women with premature ovarian failure.
P2860
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P2860
Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation.
description
1991 nî lūn-bûn
@nan
1991年の論文
@ja
1991年学术文章
@wuu
1991年学术文章
@zh
1991年学术文章
@zh-cn
1991年学术文章
@zh-hans
1991年学术文章
@zh-my
1991年学术文章
@zh-sg
1991年學術文章
@yue
1991年學術文章
@zh-hant
name
Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation.
@en
Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation.
@nl
type
label
Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation.
@en
Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation.
@nl
prefLabel
Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation.
@en
Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation.
@nl
P2093
P1476
Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation.
@en
P2093
Biancalana V
Blumenfeld S
Croquette MF
DeLozier-Blanchet C
Rousseau F
Van Der Hagen C
P304
P356
10.1056/NEJM199112123252401
P407
P577
1991-12-01T00:00:00Z