(Q33677292)

28 July 2017

title

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

1 reference

facioscapulohumeral muscular dystrophy

28 July 2017

main subject

0 references

author name string

G Deidda

1 reference

28 July 2017

S Cacurri

1 reference

28 July 2017

N Piazzo

1 reference

28 July 2017

L Felicetti

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 May 1996

1 reference

Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

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28 July 2017

1 reference

28 July 2017

page(s)

361-365

1 reference

Evidence for heterogeneity in facioscapulohumeral muscular dystrophy (FSHD)

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050602

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050602

Pulsed-field gel electrophoresis of the D4F104S1 locus reveals the size and the parental origin of the facioscapulohumeral muscular dystrophy (FSHD)-associated deletions

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050602

Physical Mapping Evidence for a Duplicated Region on Chromosome 10qter Showing High Homology with the Facioscapulohumeral Muscular Dystrophy Locus on Chromosome 4qter

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050602

Regional mapping of facioscapulohumeral muscular dystrophy gene on 4q35: combined analysis of an international consortium

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050602

Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050602

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050602

4q35 molecular probes for the diagnosis and genetic counseling of facioscapulohumeral muscular dystrophy

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8733043

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Chromosome 4q35 haplotypes and DNA rearrangements segregating in affected subjects of 19 Italian families with facioscapulohumeral musculatur dystrophy (FSHD)

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8733043

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.33.5.361

1 reference

28 July 2017

1 reference

28 July 2017

1 reference