(Q42706421)

English

A large patient study confirming that facioscapulohumeral muscular dystrophy (FSHD) disease expression is almost exclusively associated with an FSHD locus located on a 4qA-defined 4qter subtelomere

scientific article published on 20 September 2006

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Statements

scholarly article

1 reference

Europe PubMed Central

5 November 2017

0 references

A large patient study confirming that facioscapulohumeral muscular dystrophy (FSHD) disease expression is almost exclusively associated with an FSHD locus located on a 4qA-defined 4qter subtelomere (English)

1 reference

Europe PubMed Central

5 November 2017

facioscapulohumeral muscular dystrophy

0 references

1 reference

based on heuristic

inferred from title

5

1 reference

Europe PubMed Central

5 November 2017

author name string

N S T Thomas

1

1 reference

Europe PubMed Central

5 November 2017

K Wiseman

2

1 reference

Europe PubMed Central

5 November 2017

G Spurlock

3

1 reference

Europe PubMed Central

5 November 2017

M MacDonald

4

1 reference

Europe PubMed Central

5 November 2017

M Upadhyaya

6

1 reference

Europe PubMed Central

5 November 2017

language of work or name

0 references

publication date

20 September 2006

1 reference

Europe PubMed Central

5 November 2017

Journal of Medical Genetics

1 reference

Europe PubMed Central

5 November 2017

44

1 reference

Europe PubMed Central

5 November 2017

3

1 reference

Europe PubMed Central

5 November 2017

215-218

1 reference

Europe PubMed Central

5 November 2017

Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598031

27 May 2018

D4F104S1 deletion in facioscapulohumeral muscular dystrophy: phenotype, size, and detection

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598031

27 May 2018

Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598031

27 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598031

27 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598031

27 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598031

27 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598031

27 May 2018

Genomic analysis of human chromosome 10q and 4q telomeres suggests a common origin.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598031

16 August 2018

Evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy. The FSH-DY Group

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598031

16 August 2018

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)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598031

16 August 2018

Recurrent somatic mosaicism for D4Z4 contractions in a family with facioscapulohumeral muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/16987949

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prenatal diagnosis for facioscapulohumeral muscular dystrophy (FSHD)

1 reference

https://pubmed.ncbi.nlm.nih.gov/16987949

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.2006.042804

1 reference

Europe PubMed Central

5 November 2017

1 reference

Europe PubMed Central

5 November 2017

1 reference

Europe PubMed Central

5 November 2017

ResearchGate publication ID

0 references

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