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

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

1988 • 20,341 citations

Genomic sequencing.

1984 • 8,343 citations

Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy

1992 • 640 citations

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

1993 • 500 citations

Location of facioscapulohumeral muscular dystrophy gene on chromosome 4

1990 • 274 citations

Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations.

1989 • 203 citations

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

1995 • 127 citations

Mapping of facioscapulohumeral muscular dystrophy gene to chromosome 4q35-qter by multipoint linkage analysis and in situ hybridization

1991 • 118 citations

Regional mapping of facioscapulohumeral muscular dystrophy gene on 4q35: combined analysis of an international consortium.

1992 • 116 citations

Estimation of age dependent penetrance in facioscapulohumeral muscular dystrophy by minimising ascertainment bias.

1989 • 87 citations

Evidence for heterogeneity in facioscapulohumeral muscular dystrophy (FSHD).

1993 • 78 citations

DNA probe analysis for carrier detection and prenatal diagnosis of Duchenne muscular dystrophy: a standard diagnostic procedure.

1986 • 62 citations

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

1993 • 54 citations

Isolation and mapping of a polymorphic DNA sequence pH30 on chromosome 4 [HGM provisional no. IMS 139]

1989 • 53 citations

Pulsed-Field Gel Electrophoresis of the D4F104S1 Locus Reveals the Size and the Parental Origin of the Facioscapulohumeral Muscular Dystrophy (FSHD)-Associated Deletions

1994 • 46 citations

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

1993 • 35 citations

Job perspectives in facioscapulohumeral muscular dystrophy

1993 • 28 citations

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

1993 • 19 citations

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

1994 • 12 citations

Isolation and characterization of a hypervariable region [D4S163] on chromosome 4

1990 • 11 citations

A Sac I RFLP is detected with the 5-HT 1a serotonin receptor probe G21

1990 • 5 citations