Hybridization analysis of D4Z4 repeat arrays linked to FSHD. (Q35688138)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17131163 AND SRC:MED&resulttype=core&format=json

22 December 2019

title

Hybridization analysis of D4Z4 repeat arrays linked to FSHD (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17131163 AND SRC:MED&resulttype=core&format=json

22 December 2019

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17131163 AND SRC:MED&resulttype=core&format=json

22 December 2019

author name string

Melanie Ehrlich

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17131163 AND SRC:MED&resulttype=core&format=json

22 December 2019

Kesmic Jackson

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17131163 AND SRC:MED&resulttype=core&format=json

22 December 2019

Koji Tsumagari

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17131163 AND SRC:MED&resulttype=core&format=json

22 December 2019

Richard J F L Lemmers

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17131163 AND SRC:MED&resulttype=core&format=json

22 December 2019

publication date

28 November 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17131163 AND SRC:MED&resulttype=core&format=json

22 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17131163 AND SRC:MED&resulttype=core&format=json

22 December 2019

volume

116

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17131163 AND SRC:MED&resulttype=core&format=json

22 December 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17131163 AND SRC:MED&resulttype=core&format=json

22 December 2019

page(s)

107-116

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17131163 AND SRC:MED&resulttype=core&format=json

Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation.

22 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828046

Testing the position-effect variegation hypothesis for facioscapulohumeral muscular dystrophy by analysis of histone modification and gene expression in subtelomeric 4q

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828046

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828046

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828046

Chromosome 4q;10q translocations; comparison with different ethnic populations and FSHD patients

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828046

Inappropriate Gene Activation in FSHD

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828046

Methylation of the FSHD syndrome-linked subtelomeric repeat in normal and FSHD cell cultures and tissues

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828046

Whole-genome methylation scan in ICF syndrome: hypomethylation of non-satellite DNA repeats D4Z4 and NBL2.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828046

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828046

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828046

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828046

Molecular organization and chromosomal location of human GC-rich heterochromatic blocks.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828046

Molecular genetics of facioscapulohumeral muscular dystrophy

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828046

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828046

A simple salting out procedure for extracting DNA from human nucleated cells

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828046

Hypermethylation of human DNA sequences in embryonal carcinoma cells and somatic tissues but not in sperm

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828046

Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828046

Rapid and accurate diagnosis of facioscapulohumeral muscular dystrophy.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828046

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828046

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828046

The DNA rearrangement associated with facioscapulohumeral muscular dystrophy involves a heterochromatin-associated repetitive element: implications for a role of chromatin structure in the pathogenesis of the disease.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828046

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828046

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)

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828046

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828046

Rapid and accurate diagnosis of facioscapulohumeral muscular dystrophy

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828046

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

15 November 2018

1 reference

12 December 2020

Facioscapulohumeral muscular dystrophy

1 reference

12 December 2020

Somatic mosaicism in FSHD often goes undetected

1 reference

12 December 2020

FSHD in Chinese population: characteristics of translocation and genotype-phenotype correlation

1 reference

12 December 2020

Evidence for subtelomeric exchange of 3.3 kb tandemly repeated units between chromosomes 4q35 and 10q26: implications for genetic counselling and etiology of FSHD1

1 reference

12 December 2020

Inter- and intrachromosomal sub-telomeric rearrangements on 4q35: implications for facioscapulohumeral muscular dystrophy (FSHD) aetiology and diagnosis

1 reference

12 December 2020

Definitive molecular diagnosis of facioscapulohumeral dystrophy

1 reference

12 December 2020

10.1007/S00412-006-0080-6

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17131163 AND SRC:MED&resulttype=core&format=json

22 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17131163 AND SRC:MED&resulttype=core&format=json

22 December 2019

PubMed publication ID

17131163

1 reference