High proportion of new mutations and possible anticipation in Brazilian facioscapulohumeral muscular dystrophy families (Q35643770)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7825608%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7825608%20AND%20SRC:MED&resulttype=core&format=json

facioscapulohumeral muscular dystrophy

26 October 2019

main subject

0 references

1

Zatz M

2 references

PubMed publication ID

7825608

9 August 2017

26 October 2019

Marie SK

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7825608%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

Passos-Bueno MR

3

1 reference

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26 October 2019

Vainzof M

4

1 reference

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26 October 2019

Campiotto S

5

1 reference

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26 October 2019

Cerqueira A

6

1 reference

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26 October 2019

Wijmenga C

7

1 reference

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26 October 2019

Padberg G

8

1 reference

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26 October 2019

Frants R

9

1 reference

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26 October 2019

language of work or name

English

0 references

publication date

1 January 1995

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7825608%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

26 October 2019

published in

1 reference

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26 October 2019

volume

56

1 reference

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26 October 2019

issue

1

1 reference

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26 October 2019

page(s)

99-105

1 reference

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Formal genetics of muscular dystrophy

26 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801310

Facioscapulohumeral muscular dystrophy: aspects of genetic counselling, acceptance of preclinical diagnosis, and fitness

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801310

Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801310

Molecular genetics of facioscapulohumeral muscular dystrophy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801310

Gametic but not somatic instability of CAG repeat length in Huntington's disease.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801310

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801310

A new simplified method for estimating relative fitness in man

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801310

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801310

Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801310

A workshop on facioscapulohumeral (Landouzy-Déjérine) disease, Manchester, 16 to 17 November 1988

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801310

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801310

Estimate of germinal mosaicism in Duchenne muscular dystrophy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801310

Screening of deletions in the dystrophin gene with the cDNA probes Cf23a, Cf56a, and Cf115

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801310

Mapping of facioscapulohumeral muscular dystrophy gene to chromosome 4q35-qter by multipoint linkage analysis and in situ hybridization

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801310

Location of facioscapulohumeral muscular dystrophy gene on chromosome 4.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801310

Somatic origin of inherited haemophilia A.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801310

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801310

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801310

Different mosaicism frequencies for proximal and distal Duchenne muscular dystrophy (DMD) mutations indicate difference in etiology and recurrence risk

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801310

Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801310

Cloning of the essential myotonic dystrophy region and mapping of the putative defect

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801310

Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801310

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.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801310

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=1801310

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801310

No evidence of genetic heterogeneity in Brazilian facioscapulohumeral muscular dystrophy familes (FSHD) with 4q markers

15 November 2018

1 reference

12 December 2020

Molecular analysis of British facioscapulohumeral dystrophy families for 4q DNA rearrangements

1 reference

12 December 2020

Genetics of facioscapulohumeral muscular dystrophy: new mutations in sporadic cases

1 reference

12 December 2020

Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy

1 reference

12 December 2020

Diagnostic criteria for facioscapulohumeral muscular dystrophy

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7825608%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

PubMed publication ID

7825608

1 reference