(Q34146154)

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De novo facioscapulohumeral muscular dystrophy: frequent somatic mosaicism, sex-dependent phenotype, and the role of mitotic transchromosomal repeat interaction between chromosomes 4 and 10.

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scholarly article

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Europe PubMed Central

PubMed publication ID

31 July 2017

De novo facioscapulohumeral muscular dystrophy: frequent somatic mosaicism, sex-dependent phenotype, and the role of mitotic transchromosomal repeat interaction between chromosomes 4 and 10. (English)

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

facioscapulohumeral muscular dystrophy

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1 reference

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author name string

van der Maarel SM

1

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Europe PubMed Central

PubMed publication ID

31 July 2017

Deidda G

2

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Europe PubMed Central

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31 July 2017

Lemmers RJ

3

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Europe PubMed Central

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31 July 2017

van Overveld PG

4

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Europe PubMed Central

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31 July 2017

van der Wielen M

5

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31 July 2017

Hewitt JE

6

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31 July 2017

Sandkuijl L

7

1 reference

Europe PubMed Central

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31 July 2017

Bakker B

8

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Europe PubMed Central

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31 July 2017

van Ommen GJ

9

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31 July 2017

Padberg GW

10

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31 July 2017

Frants RR

11

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31 July 2017

language of work or name

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publication date

1 January 2000

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31 July 2017

American Journal of Human Genetics

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31 July 2017

66

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31 July 2017

1

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Europe PubMed Central

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31 July 2017

26-35

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Europe PubMed Central

PubMed publication ID

31 July 2017

describes a project that uses

1 reference

Europe PubMed Central

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC1288331/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

Analysis of intrachromosomal homologous recombination in mammalian cell, using tandem repeat sequences.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288331

5 July 2018

Concerted evolution: molecular mechanism and biological implications

1 reference

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5 July 2018

Somatic mosaicism: a common cause of classic disease in tumor-prone syndromes? Lessons from type 2 neurofibromatosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288331

5 July 2018

Sequence homology between 4qter and 10qter loci facilitates the instability of subtelomeric KpnI repeat units implicated in facioscapulohumeral muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288331

5 July 2018

Frequency of somatic and germ-line mosaicism in retinoblastoma: implications for genetic counseling.

1 reference

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5 July 2018

Concerted evolution of the tandemly repeated genes encoding human U2 snRNA (the RNU2 locus) involves rapid intrachromosomal homogenization and rare interchromosomal gene conversion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288331

5 July 2018

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=1288331

5 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=1288331

5 July 2018

Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288331

5 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=1288331

5 July 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=1288331

5 July 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=1288331

5 July 2018

Molecular evidence for genetic exchanges among ribosomal genes on nonhomologous chromosomes in man and apes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288331

5 July 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=1288331

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288331

5 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=1288331

5 July 2018

The facioscapulohumeral muscular dystrophy (FSHD1) gene affects males more severely and more frequently than females

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288331

28 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288331

28 October 2018

Analysis of the tandem repeat locus D4Z4 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=1288331

28 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=1288331

28 October 2018

Germline mosaicism and Duchenne muscular dystrophy mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288331

28 October 2018

Complex gene conversion events in germline mutation at human minisatellites

1 reference

https://pubmed.ncbi.nlm.nih.gov/10631134

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/10631134

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of a tandemly repeated 3.3-kb KpnI unit in the facioscapulohumeral muscular dystrophy (FSHD) gene region on chromosome 4q35

1 reference

https://pubmed.ncbi.nlm.nih.gov/10631134

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Facioscapulohumeral muscular dystrophy in the Dutch population

1 reference

https://pubmed.ncbi.nlm.nih.gov/10631134

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Germline mosaicism in 4q35 facioscapulohumeral muscular dystrophy (FSHD1A) occurring predominantly in oogenesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/10631134

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evidence for subtelomeric exchange of 3.3 kb tandemly repeated units between chromosomes 4q35 and 10q26: implications for genetic counselling and etiology of FSHD1

1 reference

https://pubmed.ncbi.nlm.nih.gov/10631134

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

44th ENMC International Workshop: Facioscapulohumeral Muscular Dystrophy: Molecular Studies 19-21 July 1996, Naarden, The Netherlands

1 reference

https://pubmed.ncbi.nlm.nih.gov/10631134

12 December 2020

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/10631134

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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Europe PubMed Central

PubMed publication ID

31 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

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