(Q34920751)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25256356%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

title

Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2 (English)

1 reference

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20 February 2020

7

1 reference

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20 February 2020

Daniel G. Miller

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25256356%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

Jan J Verschuuren

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25256356%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

Adolfo López de Munain

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25256356%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

Sabrina Sacconi

17

1 reference

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20 February 2020

Silvère M van der Maarel

21

1 reference

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20 February 2020

16

George W Padberg

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25256356%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

15

Baziel G M van Engelen

1 reference

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20 February 2020

18

Rabi Tawil

1 reference

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20 February 2020

2

Jelle J Goeman

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25256356%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

Patrick J van der Vliet

3

object named as

Patrick J van der Vliet

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25256356%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

19

Stephen J Tapscott

1 reference

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20 February 2020

Richard J L F Lemmers

1

object named as

Richard J L F Lemmers

1 reference

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20 February 2020

5

Judit Balog

1 reference

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20 February 2020

author name string

Merlijn P van Nieuwenhuizen

4

1 reference

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20 February 2020

Marianne Vos-Versteeg

6

1 reference

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20 February 2020

Maria Antonia Ramos Arroyo

8

1 reference

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20 February 2020

Ivonne Jerico

9

1 reference

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20 February 2020

Mark T Rogers

10

1 reference

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20 February 2020

Meena Upadhyaya

12

1 reference

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20 February 2020

Bert Bakker

20

1 reference

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20 February 2020

publication date

25 September 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25256356%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

published in

Human Molecular Genetics

1 reference

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20 February 2020

volume

24

1 reference

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20 February 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25256356%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

page(s)

659-669

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25256356%20AND%20SRC:MED&resulttype=core&format=json

Population-based incidence and prevalence of facioscapulohumeral dystrophy

20 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4291246

The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4291246

Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4291246

Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4291246

A focal domain of extreme demethylation within D4Z4 in FSHD2.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4291246

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4291246

Correlation analysis of clinical parameters with epigenetic modifications in the DUX4 promoter in FSHD.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4291246

Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4291246

DUX4 activates germline genes, retroelements, and immune mediators: implications for facioscapulohumeral dystrophy.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4291246

Facioscapulohumeral muscular dystrophy: molecular pathological advances and future directions

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4291246

Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4291246

Clinical features of facioscapulohumeral muscular dystrophy 2.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4291246

A unifying genetic model for facioscapulohumeral muscular dystrophy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4291246

Worldwide population analysis of the 4q and 10q subtelomeres identifies only four discrete interchromosomal sequence transfers in human evolution

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4291246

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4291246

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4291246

RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4291246

SmcHD1, containing a structural-maintenance-of-chromosomes hinge domain, has a critical role in X inactivation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4291246

DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4291246

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4291246

At the heart of the chromosome: SMC proteins in action

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4291246

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4291246

Very low penetrance in 85 Japanese families with facioscapulohumeral muscular dystrophy 1A.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4291246

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4291246

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4291246

Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4291246

Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4291246

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)

8 July 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU486

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU486

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU486

Rapid and accurate diagnosis of facioscapulohumeral muscular dystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU486

Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers

21 January 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Variable hypomethylation of D4Z4 in facioscapulohumeral muscular dystrophy

1 reference

12 December 2020

Complete allele information in the diagnosis of facioscapulohumeral muscular dystrophy by triple DNA analysis

1 reference

12 December 2020

Interchromosomal repeat array interactions between chromosomes 4 and 10: a model for subtelomeric plasticity

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/DDU486

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25256356%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25256356%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

PubMed publication ID

25256356

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25256356%20AND%20SRC:MED&resulttype=core&format=json