(Q33678953)

28 July 2017

title

Improved molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD): validation of the differential double digestion for FSHD (English)

1 reference

facioscapulohumeral muscular dystrophy

28 July 2017

main subject

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author name string

M Upadhyaya

1

1 reference

28 July 2017

J Maynard

2

1 reference

28 July 2017

M T Rogers

3

1 reference

28 July 2017

P W Lunt

4

1 reference

28 July 2017

P Jardine

5

1 reference

28 July 2017

D Ravine

6

1 reference

28 July 2017

P S Harper

7

1 reference

28 July 2017

language of work or name

English

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publication date

1 June 1997

1 reference

Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

volume

34

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28 July 2017

issue

6

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28 July 2017

page(s)

476-479

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

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050970

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050970

Evidence for heterogeneity in facioscapulohumeral muscular dystrophy (FSHD)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050970

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050970

"A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity". Addendum

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050970

Position effects on eukaryotic gene expression

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050970

Position-effect variegation after 60 years

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050970

Location of facioscapulohumeral muscular dystrophy gene on chromosome 4.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050970

Genetic counselling in facioscapulohumeral muscular dystrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050970

Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050970

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050970

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)

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050970

Diagnostic criteria for facioscapulohumeral muscular dystrophy

30 October 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Clinical variability of facioscapulohumeral muscular dystrophy in Russia

1 reference

12 December 2020

Scapuloperoneal syndromes. Absence of linkage to the 4q35 FSHD locus

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.34.6.476

1 reference

28 July 2017

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28 July 2017

1 reference