Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms
about
Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis.Mapping the gene causing X-linked recessive nephrolithiasis to Xp11.22 by linkage studiesX-linked borderline mental retardation with prominent behavioral disturbance: phenotype, genetic localization, and evidence for disturbed monoamine metabolismMolecular analysis of recombination in a family with Duchenne muscular dystrophy and a large pericentric X chromosome inversion.A new nonsyndromic X-linked sensorineural hearing impairment linked to Xp21.2.Three patients with ring (X) chromosomes and a severe phenotype.Development and validation of laboratory procedures for preimplantation diagnosis of Duchenne muscular dystrophy.Automated analysis of multiplex microsatellites.Dilated cardiomyopathy and the dystrophin gene: an illustrated reviewThe clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol.Genetic localisation of mental retardation with spastic diplegia to the pericentromeric region of the X chromosome: X inactivation in female carriers.Severe phenotype resulting from an active ring X chromosome in a female with a complex karyotype: characterisation and replication study.Refinement of the localisation of the X linked keratosis follicularis spinulosa decalvans (KFSD) gene in Xp22.13-p22.2.Fluorescent multiplex linkage analysis and carrier detection for Duchenne/Becker muscular dystrophyX-linked recessive panhypopituitarism associated with a regional duplication in Xq25-q26.Uniparental disomy of the entire X chromosome in a female with Duchenne muscular dystrophy.Skewed segregation of the mtDNA nt 8993 (T-->G) mutation in human oocytesStudies of X inactivation and isodisomy in twins provide further evidence that the X chromosome is not involved in Rett syndrome.Toward fully automated genotyping: genotyping microsatellite markers by deconvolution.A larger spectrum of intragenic short tandem repeats improves linkage analysis and localization of intragenic recombination detection in the dystrophin gene: an analysis of 93 families from southern Italy.Experience and strategy for the molecular testing of Duchenne muscular dystrophy.Use of the MLPA assay in the molecular diagnosis of gene copy number alterations in human genetic diseases.Detection of new paternal dystrophin gene mutations in isolated cases of dystrophinopathy in females.Toward fully automated genotyping: allele assignment, pedigree construction, phase determination, and recombination detection in Duchenne muscular dystrophyMultiplex PCR for rapid detection of exonal deletions in patients of duchenne muscular dystrophy.Carrier detection in Duchenne muscular dystrophy using molecular methods.Serum Levels of MicroRNA-206 and Novel Mini-STR Assays for Carrier Detection in Duchenne Muscular Dystrophy.Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy.The determination of the sequences present in the shadow bands of a dinucleotide repeat PCR.A rare subclinical or mild type of Becker muscular dystrophy caused by a single exon 48 deletion of the dystrophin gene.Deletion patterns of Duchenne and Becker muscular dystrophies in Greece.
P2860
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P2860
Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms
description
1991 nî lūn-bûn
@nan
1991 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի նոյեմբերին 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
Carrier detection and prenatal ...... ucleotide repeat polymorphisms
@ast
Carrier detection and prenatal ...... ucleotide repeat polymorphisms
@en
type
label
Carrier detection and prenatal ...... ucleotide repeat polymorphisms
@ast
Carrier detection and prenatal ...... ucleotide repeat polymorphisms
@en
prefLabel
Carrier detection and prenatal ...... ucleotide repeat polymorphisms
@ast
Carrier detection and prenatal ...... ucleotide repeat polymorphisms
@en
P2093
P2860
P1476
Carrier detection and prenatal ...... ucleotide repeat polymorphisms
@en
P2093
Chakraborty R
Chamberlain JS
Clemens PR
Fenwick RG
de Andrade M
P2860
P304
P407
P577
1991-11-01T00:00:00Z