about
Frequent small amplifications in the FMR-1 gene in fra(X) families: limits to the diagnosis of 'premutations'Cloning of the gene for the fragile X syndrome: implications for the clinical geneticistMolecular genetics of fragile X: a cytogenetics viewpoint. Report of the Fifth International Symposium on X Linked Mental Retardation, Strasbourg, France, 12 to 16 August 1991 (organiser Dr J-L Mandel)The suitability of matrix assisted laser desorption/ionization time of flight mass spectrometry in a laboratory developed test using cystic fibrosis carrier screening as a model.DNA testing for fragile X syndrome in schools for learning difficulties.Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population.A microdeletion of less than 250 kb, including the proximal part of the FMR-I gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome.Two new cases of FMR1 deletion associated with mental impairment.A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: the first 2,253 cases.Screening for fragile X syndrome: information needs for health planners.Identification of the FRAXE fragile site in two families ascertained for X linked mental retardation.Origins of the fragile X syndrome mutation.Nucleosome assembly on methylated CGG triplet repeats in the fragile X mental retardation gene 1 promoter.
P2860
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P2860
description
1991 nî lūn-bûn
@nan
1991 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1991年の論文
@ja
1991年論文
@yue
1991年論文
@zh-hant
1991年論文
@zh-hk
1991年論文
@zh-mo
1991年論文
@zh-tw
1991年论文
@wuu
name
Genotype prediction in the fragile X syndrome.
@ast
Genotype prediction in the fragile X syndrome.
@en
type
label
Genotype prediction in the fragile X syndrome.
@ast
Genotype prediction in the fragile X syndrome.
@en
prefLabel
Genotype prediction in the fragile X syndrome.
@ast
Genotype prediction in the fragile X syndrome.
@en
P2093
P2860
P356
P1476
Genotype prediction in the fragile X syndrome.
@en
P2093
C Schwartz
J M Connor
K E Davies
S J Knight
S N Thibodeau
Y Nakahori
P2860
P304
P356
10.1136/JMG.28.12.824
P407
P577
1991-12-01T00:00:00Z