Clinical features of facioscapulohumeral muscular dystrophy 2. (Q34281836)

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14 January 2020

title

Clinical features of facioscapulohumeral muscular dystrophy 2 (English)

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facioscapulohumeral muscular dystrophy

14 January 2020

main subject

0 references

1 reference

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14 January 2020

J C de Greef

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14 January 2020

R J L F Lemmers

1 reference

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14 January 2020

J W Day

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14 January 2020

S Sacconi

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14 January 2020

M Dunand

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14 January 2020

B G M van Engelen

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14 January 2020

S Kiuru-Enari

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14 January 2020

G W Padberg

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14 January 2020

A L Rosa

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14 January 2020

C Desnuelle

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14 January 2020

S Spuler

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14 January 2020

M Tarnopolsky

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14 January 2020

S L Venance

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14 January 2020

R R Frants

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14 January 2020

S M van der Maarel

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14 January 2020

R Tawil

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14 January 2020

language of work or name

English

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publication date

1 October 2010

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14 January 2020

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volume

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issue

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page(s)

1548-1554

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describes a project that uses

14 January 2020

ImageQuant

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11 June 2022

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inferred from PubMed Central ID database lookup

cites work

Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974464

Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD).

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974464

Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974464

Significance of Beevor's sign in facioscapulohumeral dystrophy and other neuromuscular diseases

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974464

Homozygosity for autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) does not result in a more severe phenotype

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974464

Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974464

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974464

De novo facioscapulohumeral muscular dystrophy: frequent somatic mosaicism, sex-dependent phenotype, and the role of mitotic transchromosomal repeat interaction between chromosomes 4 and 10.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974464

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974464

Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974464

Quality of life and pain in patients with facioscapulohumeral muscular dystrophy.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974464

Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number of KpnI repeats at the 4q35 locus and clinical phenotype.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974464

The facioscapulohumeral muscular dystrophy (FSHD1) gene affects males more severely and more frequently than females

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974464

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974464

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)

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974464

Beevor's sign in facioscapulohumeral muscular dystrophy: an old sign with new implications

28 October 2018

1 reference

12 December 2020

Possible phenotypic dosage effect in patients compound heterozygous for FSHD-sized 4q35 alleles

1 reference

12 December 2020

Asymptomatic carriers and gender differences in facioscapulohumeral muscular dystrophy (FSHD)

1 reference

12 December 2020

Diagnostic criteria for facioscapulohumeral muscular dystrophy

1 reference

12 December 2020

Facioscapulohumeral muscular dystrophy (FSHD): design of natural history study and results of baseline testing. FSH-DY Group

1 reference

12 December 2020

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

1 reference

12 December 2020

Variable hypomethylation of D4Z4 in facioscapulohumeral muscular dystrophy

1 reference

12 December 2020

Hypomethylation is restricted to the D4Z4 repeat array in phenotypic FSHD

1 reference

12 December 2020

10.1212/WNL.0B013E3181F96175

Identifiers

DOI

1 reference

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release_udlkr5k56ngt7dwqhsf7ngzlcq

14 January 2020

Fatcat ID

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Fatcat

https://api.fatcat.wiki/v0/release/udlkr5k56ngt7dwqhsf7ngzlcq

24 November 2022

mapped directly with Wikidata item

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14 January 2020

PubMed publication ID

20975055

1 reference

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