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

Modifiers of position effect are shared between telomeric and silent mating-type loci in S. cerevisiae

1991 • 700 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

Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystropothhy

1994 • 309 citations

Position-effect variegation after 60 years

1990 • 286 citations

High resolution R- and G-banding on the same preparation

1981 • 210 citations

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

1994 • 145 citations

Genetic counselling in facioscapulohumeral muscular dystrophy.

1991 • 128 citations

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

1992 • 116 citations

Interstitial and terminal deletions of the long arm of chromosome 4: Further delineation of phenotypes

1988 • 106 citations

High proportion of new mutations and possible anticipation in Brazilian facioscapulohumeral muscular dystrophy families.

1995 • 105 citations

Deletion of Y chromosome sequences located outside the testis determining region can cause XY female sex reversal

1993 • 103 citations

Facioscapulohumeral Disease

2009 • 95 citations

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

1989 • 87 citations

Familial aniridia and translocation t(4;11)(q22;p13) without Wilms' tumor

1983 • 81 citations

Human Cytogenetics Database

1994 • 70 citations

Fine mapping of the FSHD gene region orientates the rearranged fragment detected by the probe p13E-11

1993 • 62 citations

Genetic linkage map of facioscapulohumeral muscular dystrophy and five polymorphic loci on chromosome 4q35-qter.

1992 • 58 citations

Human Cytogenetics Database

1997 • 53 citations

The mapping of chromosome 4q markers in relation to facioscapulohumeral muscular dystrophy (FSHD).

1992 • 39 citations

Linkage analyses of five chromosome 4 markers localizes the facioscapulohumeral muscular dystrophy (FSHD) gene to distal 4q35.

1992 • 36 citations

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

1993 • 35 citations

Genetic and physical mapping on chromosome 4 narrows the localization of the gene for facioscapulohumeral muscular dystrophy (FSHD).

1992 • 34 citations

High resolution fluorescence in situ hybridization to linearly extended DNA visually maps a tandem repeat associated with facioscapulohumeral muscular dystrophy immediately adjacent to the telomere of 4q

1994 • 29 citations

Linkage studies in facioscapulohumeral muscular dystrophy (FSHD).

1992 • 28 citations

Linkage localization of facioscapulohumeral muscular dystrophy (FSHD) in 4q35.

1992 • 27 citations

Allelic instability in mitosis: a unified model for dominant disorders.

1993 • 27 citations

The human skeletal muscle adenine nucleotide translocator gene maps to chromosome 4q35 in the region of the facioscapulohumeral muscular dystrophy locus

1993 • 26 citations

Physical mapping and YAC-cloning connects four genetically distinct 4qter loci (D4S163, D4S139, D4F35S1 and D4F104S1) in the FSHD gene-region

1993 • 21 citations

Does junk DNA regulate gene expression in humans?

1995 • 3 citations