(Q33681314)

English

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

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scholarly article

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9733041%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

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

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9733041%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

facioscapulohumeral muscular dystrophy

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Rossella Tupler

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9733041%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

author name string

L Barbierato

2

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9733041%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

M Memmi

3

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9733041%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

C A Sewry

4

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9733041%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

D De Grandis

5

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9733041%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

P Maraschio

6

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9733041%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

L Tiepolo

7

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9733041%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

A Ferlini

8

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Europe PubMed Central

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3 December 2019

language of work or name

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publication date

1 September 1998

1 reference

Europe PubMed Central

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3 December 2019

Journal of Medical Genetics

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Europe PubMed Central

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3 December 2019

35

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9733041%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

9

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9733041%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

778-783

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9733041%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

Diagnostic, predictive, and prenatal testing for facioscapulohumeral muscular dystrophy: diagnostic approach for sporadic and familial cases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051435

21 June 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=1051435

21 June 2018

A radiation hybrid map of 15 loci on the distal long arm of chromosome 4, the region containing the gene responsible for 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=1051435

21 June 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=1051435

21 June 2018

Trinucleotide repeat expansion in neurological disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051435

21 June 2018

High proportion of new mutations and possible anticipation in Brazilian facioscapulohumeral muscular dystrophy families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051435

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051435

21 June 2018

Facioscapulohumeral muscular dystrophy: the choice of a biopsy site

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051435

21 June 2018

Individual-specific ‘fingerprints’ of human DNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051435

21 June 2018

Estimation of age dependent penetrance in facioscapulohumeral muscular dystrophy by minimising ascertainment bias

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051435

21 June 2018

Genetic and physical mapping on chromosome 4 narrows the localization of the gene for 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=1051435

21 June 2018

Linkage localization of facioscapulohumeral muscular dystrophy (FSHD) in 4q35

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051435

21 June 2018

Linkage studies 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=1051435

21 June 2018

Linkage analyses of five chromosome 4 markers localizes the facioscapulohumeral muscular dystrophy (FSHD) gene to distal 4q35

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051435

21 June 2018

Genetic linkage map of facioscapulohumeral muscular dystrophy and five polymorphic loci on chromosome 4q35-qter

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051435

21 June 2018

The mapping of chromosome 4q markers in relation to 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=1051435

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051435

21 June 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=1051435

21 June 2018

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.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051435

30 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=1051435

30 October 2018

Mapping the facioscapulohumeral muscular dystrophy gene is complicated by chromosome 4q35 recombination events

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051435

30 October 2018

Wiedemann-Beckwith syndrome in apparently discordant monozygotic twins

1 reference

https://pubmed.ncbi.nlm.nih.gov/9733041

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Absence of detectable chromosomal and molecular abnormalities in monozygotic twins discordant for the Wiedemann-Beckwith syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/9733041

12 December 2020

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/9733041

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chromosome 4q DNA rearrangement in monozygotic twins discordant for facioscapulohumeral muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/9733041

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Germinal mosaicism in facioscapulohumeral muscular dystrophy (FSHD)

1 reference

https://pubmed.ncbi.nlm.nih.gov/9733041

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Expression of laminin subunits in congenital muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/9733041

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Forensic application of DNA ‘fingerprints’

1 reference

https://pubmed.ncbi.nlm.nih.gov/9733041

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.35.9.778

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9733041%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9733041%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9733041%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

ResearchGate publication ID

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