(Q36170468)

12 August 2017

Diagnosis by sequencing: correction of misdiagnosis from FSHD2 to LGMD2A by whole-exome analysis (English)

1 reference

12 August 2017

1 reference

Andreas Leidenroth

1

1 reference

12 August 2017

Hanne Sørmo Sorte

2

1 reference

12 August 2017

Gregor Gilfillan

3

1 reference

12 August 2017

Melanie Ehrlich

4

1 reference

12 August 2017

Robert Lyle

5

1 reference

12 August 2017

Jane E Hewitt

6

1 reference

12 August 2017

language of work or name

1 reference

29 February 2012

1 reference

European Journal of Human Genetics

12 August 2017

1 reference

12 August 2017

20

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12 August 2017

9

1 reference

12 August 2017

999-1003

1 reference

https://scigraph.springernature.com/pub.10.1038/ejhg.2012.42

12 August 2017

0 references

cites work

Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421126

A framework for variation discovery and genotyping using next-generation DNA sequencing data

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421126

Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421126

Integrative genomics viewer

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421126

Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421126

A unifying genetic model for facioscapulohumeral muscular dystrophy

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421126

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421126

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421126

Fast and accurate long-read alignment with Burrows-Wheeler transform

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421126

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421126

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421126

The Sequence Alignment/Map format and SAMtools

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421126

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421126

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421126

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421126

The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421126

Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421126

Facioscapulohumeral muscular dystrophy molecular testing using a non radioactive protocol.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421126

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

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421126

Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counselling

23 September 2018

1 reference

12 December 2020

Hypomethylation is restricted to the D4Z4 repeat array in phenotypic FSHD

1 reference

12 December 2020

Genetic diagnosis of Duchenne and Becker muscular dystrophy using next-generation sequencing technology: comprehensive mutational search in a single platform

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2012.42

1 reference

Dimensions Publication ID

12 August 2017

0 references

1 reference

12 August 2017

PubMed publication ID

22378277

1 reference