Molecular genetics of facioscapulohumeral muscular dystrophy (FSHD) (Q28236842)

facioscapulohumeral muscular dystrophy

Europe PubMed Central

title

Molecular genetics of facioscapulohumeral muscular dystrophy (FSHD) (English)

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main subject

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author name string

J Fisher

series ordinal

1

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M Upadhyaya

series ordinal

2

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language of work or name

English

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publication date

January 1997

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published in

Neuromuscular Disorders

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volume

7

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issue

1

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page(s)

55-62

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cites work

Genetic counselling in facioscapulohumeral muscular dystrophy

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Diagnostic criteria for facioscapulohumeral muscular dystrophy

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7 January 2021

Retinal vascular abnormalities in facioscapulohumeral muscular dystrophy. A general association with genetic and therapeutic implications

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7 January 2021

Hearing loss in facioscapulohumeral muscular dystrophy

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7 January 2021

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

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7 January 2021

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

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7 January 2021

A scapular onset muscular dystrophy without facial involvement: possible allelism with facioscapulohumeral muscular dystrophy

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7 January 2021

Linkage studies in autosomal dominant facioscapulohumeral muscular dystrophy

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7 January 2021

Linkage studies in facioscapulohumeral muscular dystrophy

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7 January 2021

DNA marker applicable to presymptomatic and prenatal diagnosis of facioscapulohumeral disease

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7 January 2021

Location of facioscapulohumeral muscular dystrophy gene on chromosome 4.

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7 January 2021

A closely linked DNA marker for facioscapulohumeral disease on chromosome 4q.

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7 January 2021

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

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7 January 2021

Efforts toward understanding the molecular basis of facioscapulohumeral muscular dystrophy

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7 January 2021

Exclusion mapping of chromosomal regions which cross hybridise to FSHD1A associated markers in FSHD1B

1 reference

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7 January 2021

Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy

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7 January 2021

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

1 reference

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Molecular genetics of facioscapulohumeral muscular dystrophy

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7 January 2021

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)

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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.

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7 January 2021

Characterization of a tandemly repeated 3.3-kb KpnI unit in the facioscapulohumeral muscular dystrophy (FSHD) gene region on chromosome 4q35

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7 January 2021

The FSHD-associated repeat, D4Z4, is a member of a dispersed family of homeobox-containing repeats, subsets of which are clustered on the short arms of the acrocentric chromosomes.

1 reference

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Germinal mosaicism in facioscapulohumeral muscular dystrophy (FSHD)

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7 January 2021

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

1 reference

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7 January 2021

Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35

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7 January 2021

Search for the FSHD gene using cDNA selection in a region spanning 100 kb on chromosome 4q35

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7 January 2021

Towards the finer mapping of facioscapulohumeral muscular dystrophy at 4q35: construction of a laser microdissection library

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7 January 2021

Identification of genes within CpG-enriched DNA from human chromosome 4p16.3.

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7 January 2021

Myodystrophy, a new myopathy on chromosome 8 of the mouse

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7 January 2021

Small is beautiful: comparative genomics with the pufferfish (Fugu rubripes).

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7 January 2021

Molecular cloning and tissue expression of FAT, the human homologue of the Drosophila fat gene that is located on chromosome 4q34-q35 and encodes a putative adhesion molecule

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7 January 2021

Sequence polymorphism in kringle IV 37 in linkage disequilibrium with the apolipoprotein (a) size polymorphism

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7 January 2021

Position effects on eukaryotic gene expression

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7 January 2021

Position-effect variegation after 60 years

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7 January 2021

Boundary functions in the control of gene expression

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7 January 2021

Heterochromatin and gene expression in Drosophila

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7 January 2021

Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy

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https://api.crossref.org/works/10.1016%2FS0960-8966%2896%2900400-2

7 January 2021

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

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7 January 2021

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

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7 January 2021

Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype

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7 January 2021

Pax6: more than meets the eye.

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7 January 2021