Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy. (Q33910577)

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

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3 January 2020

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Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy (English)

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3 January 2020

facioscapulohumeral muscular dystrophy

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Silvère M van der Maarel

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3 January 2020

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Rune R Frants

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3 January 2020

George W. Padberg

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George W Padberg

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3 January 2020

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Eva Morava

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3 January 2020

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Richard J F L Lemmers

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3 January 2020

Mariëlle Wohlgemuth

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3 January 2020

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4 October 2004

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3 January 2020

American Journal of Human Genetics

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3 January 2020

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3 January 2020

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3 January 2020

1124-1130

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3 January 2020

When enough is enough: genetic diseases associated with transcriptional derepression

1 reference

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28 July 2018

Identification of an angiogenic factor that when mutated causes susceptibility to Klippel-Trenaunay syndrome

1 reference

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28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182148

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182148

28 July 2018

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

1 reference

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28 July 2018

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

1 reference

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28 July 2018

The formation of skeletal muscle: from somite to limb

1 reference

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28 July 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=1182148

28 July 2018

Inappropriate Gene Activation in FSHD

1 reference

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28 July 2018

THE COMPLEX STRUCTURE AND DYNAMIC EVOLUTION OF HUMAN SUBTELOMERES

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182148

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182148

28 July 2018

Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182148

28 July 2018

Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations

1 reference

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28 July 2018

Members of the olfactory receptor gene family are contained in large blocks of DNA duplicated polymorphically near the ends of human chromosomes

1 reference

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28 July 2018

Phenotypic variation in Waardenburg syndrome: mutational heterogeneity, modifier genes or polygenic background?

1 reference

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28 July 2018

Direct detection of 4q35 rearrangements implicated in 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=1182148

28 July 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=1182148

28 July 2018

The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182148

28 July 2018

Sequence organization of the human chromosome 2q telomere

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182148

28 July 2018

Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182148

28 July 2018

An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182148

28 July 2018

Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182148

28 July 2018

Localization of 4q35.2 to the nuclear periphery: is FSHD a nuclear envelope disease?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182148

29 October 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=1182148

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Two cases of chromosome 4q35-linked early onset facioscapulohumeral muscular dystrophy with mental retardation and epilepsy

1 reference

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29 October 2018

Epilepsy and mental retardation in a subset of early onset 4q35-facioscapulohumeral muscular dystrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182148

29 October 2018

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

1 reference

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29 October 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=1182148

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Clinical predominance of proximal upper limb weakness in CMT1A syndrome

1 reference

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15467981

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Improved characterization of FSHD mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/15467981

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15467981

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15467981

12 December 2020

based on heuristic

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15467981

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based on heuristic

inferred from PubMed ID database lookup

Stable length polymorphism of up to 260 kb at the tip of the short arm of human chromosome 16

1 reference

https://pubmed.ncbi.nlm.nih.gov/15467981

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based on heuristic

inferred from PubMed ID database lookup

Extreme variability of expression in monozygotic twins with FSH muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/15467981

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The FSHD-linked locus D4F104S1 (p13E-11) on 4q35 has a homologue on 10qter

1 reference

https://pubmed.ncbi.nlm.nih.gov/15467981

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Inflammatory response in facioscapulohumeral muscular dystrophy (FSHD): immunocytochemical and genetic analyses

1 reference

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based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15467981

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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