Inventaire - your friends and communities are your best library

Molecular analysis of 4q35 rearrangements in fascioscapulohumeral muscular dystrophy (FSHD): application to family studies for a correct genetic advice and a reliable prenatal diagnosis of the disease

автор

Giancarlo Deidda

Enzo Ricci

опубліковано в: Neuromuscular Disorders

дата публікації: 1999-05-01

основна тема: Fascioscapulohumeral Muscular Dystrophy

Cites articles 26

Дата

Заголовок

Автори

1999-06-01

Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number of KpnI repeats at the 4q35 locus and clinical phenotype.
1998-07-01

Sequence homology between 4qter and 10qter loci facilitates the instability of subtelomeric KpnI repeat units implicated in facioscapulohumeral muscular dystrophy

Giancarlo Deidda, Enzo Ricci
1998-04-01

44th ENMC International Workshop: Facioscapulohumeral Muscular Dystrophy: Molecular Studies 19-21 July 1996, Naarden, The Netherlands
1997-06-01

Improved molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD): validation of the differential double digestion for FSHD
1996-01-01

Diagnostic, predictive, and prenatal testing for facioscapulohumeral muscular dystrophy: diagnostic approach for sporadic and familial cases

Cisca Wijmenga
1996-05-01

Direct detection of 4q35 rearrangements implicated in facioscapulohumeral muscular dystrophy (FSHD)
1996-12-01

Evidence for subtelomeric exchange of 3.3 kb tandemly repeated units between chromosomes 4q35 and 10q26: implications for genetic counselling and etiology of FSHD1
1995-01-01

On the significance of retinal vascular disease and hearing loss in facioscapulohumeral muscular dystrophy

Cisca Wijmenga
1995-01-01

Physical mapping evidence for a duplicated region on chromosome 10qter showing high homology with the facioscapulohumeral muscular dystrophy locus on chromosome 4qter
1995-01-01

The FSHD-linked locus D4F104S1 (p13E-11) on 4q35 has a homologue on 10qter

Cisca Wijmenga
1995-01-01

Phenotypic-genotypic correlation will assist genetic counseling in 4q35-facioscapulohumeral muscular dystrophy
1994-10-01

Chromosome 4q35 haplotypes and DNA rearrangements segregating in affected subjects of 19 Italian families with facioscapulohumeral muscular dystrophy (FSHD)

Giancarlo Deidda, Andrea Novelletto, Cisca Wijmenga
1994-08-01

Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystrophy.

Fiona Francis, Cisca Wijmenga
1994-01-01

Pulsed-field gel electrophoresis of the D4F104S1 locus reveals the size and the parental origin of the facioscapulohumeral muscular dystrophy (FSHD)-associated deletions.

Cisca Wijmenga
1994-05-01

The DNA rearrangement associated with facioscapulohumeral muscular dystrophy involves a heterochromatin-associated repetitive element: implications for a role of chromatin structure in the pathogenesis of the disease

Katherine Mathews
1993-07-01

Molecular analysis of British facioscapulohumeral dystrophy families for 4q DNA rearrangements

Cisca Wijmenga
1993-05-01

No evidence of genetic heterogeneity in Brazilian facioscapulohumeral muscular dystrophy families (FSHD) with 4q markers

Suely K Marie, Mariz Vainzof, Maria Rita Passos-Bueno
1993-06

Mapping the facioscapulohumeral muscular dystrophy gene is complicated by chromosome 4q35 recombination events

Cisca Wijmenga
1993

FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit

George W. Padberg
1992-09

Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy

Cisca Wijmenga
1991-10-01

Genetic counselling in facioscapulohumeral muscular dystrophy
1991-01-01

Diagnostic criteria for facioscapulohumeral muscular dystrophy
1990-09-01

Location of facioscapulohumeral muscular dystrophy gene on chromosome 4.

Cisca Wijmenga
1989-12-01

Estimation of age dependent penetrance in facioscapulohumeral muscular dystrophy by minimising ascertainment bias
1988-02-11

A simple salting out procedure for extracting DNA from human nucleated cells
1987-01-01

Molecular analysis of the Duchenne muscular dystrophy region using pulsed field gel electrophoresis

Стаття - wd:Q77925406

Ласкаво просимо до Inventaire

the library of your friends and communities

докладніше