An inherited 4q35-EcoRI-DNA-fragment of 35 kb in a family with a sporadic case of facioscapulohumeral muscular dystrophy (FSHD)

Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy

Cisca Wijmenga, Jane Hewitt, Lodewijk A. Sandkuijl et al. · Nature Genetics · 1992 · 662 citations

Chromatin, Mendelian Disorder, Genetic Disorder +6

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

Judith C. T. van Deutekom, Cisca Wljmenga, Esther A.E.Van Tlenhoven et al. · Human Molecular Genetics · 1993 · 525 citations

Diagnostic criteria for facioscapulohumeral muscular dystrophy

G.W. Padberg, Peter Lunt, Manuela C. Koch et al. · Neuromuscular Disorders · 1991 · 218 citations

Diagnosis, Motor Disorder, Medicine +3

Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD)

Peter Lunt, Philip Jardine, Manuela C. Koch et al. · Human Molecular Genetics · 1995 · 208 citations

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

J. van Deutekom · Human Molecular Genetics · 1996 · 160 citations · Full text