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

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

1988 • 20,341 citations

Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy

1992 • 640 citations

The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation

1995 • 510 citations

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

1993 • 500 citations

Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization.

1991 • 169 citations

Direct detection of 4q35 rearrangements implicated in facioscapulohumeral muscular dystrophy (FSHD).

1996 • 137 citations

Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy.

1996 • 130 citations

DETECTION OF BREAKPOINTS IN SUBMICROSCOPIC CHROMOSOMAL TRANSLOCATION, ILLUSTRATING AN IMPORTANT MECHANISM FOR GENETIC DISEASE

1989 • 82 citations

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

1996 • 59 citations

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

1993 • 54 citations

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

1993 • 19 citations

Partial monosomy 5p and partial trisomy 5q due to paternal pericentric inversion of chromosome 5

1993 • 10 citations