(Q33593242)

28 July 2017

title

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

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Duchenne muscular dystrophy

28 July 2017

main subject

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Bakker E

1

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28 July 2017

Veenema H

2

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28 July 2017

Den Dunnen JT

3

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28 July 2017

van Broeckhoven C

4

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28 July 2017

Grootscholten PM

5

1 reference

28 July 2017

Bonten EJ

6

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28 July 2017

van Ommen GJ

7

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28 July 2017

Pearson PL

8

1 reference

28 July 2017

language of work or name

English

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publication date

1 September 1989

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Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

volume

26

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28 July 2017

issue

9

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28 July 2017

page(s)

553-559

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Recurrence risks for germinal mosaics

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=1015693

Gonadal mosaicism and genetic counseling for X-linked recessive lethals

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015693

Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015693

Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015693

Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015693

A somatic mosaic for haemophilia A detected at the DNA level.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015693

Maternal duplication associated with gene deletion in sporadic hemophilia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015693

A partial deletion of the muscular dystrophy gene transmitted twice by an unaffected male

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015693

DNA probe analysis for carrier detection and prenatal diagnosis of Duchenne muscular dystrophy: a standard diagnostic procedure

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015693

Germline mosaicism and Duchenne muscular dystrophy mutations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015693

Prenatal diagnosis and carrier detection of Duchenne muscular dystrophy with closely linked RFLPs

30 October 2018

1 reference

12 December 2020

Preferential deletion of exons in Duchenne and Becker muscular dystrophies

1 reference

12 December 2020

Direct detection of more than 50% of the Duchenne muscular dystrophy mutations by field inversion gels

1 reference

12 December 2020

Effective strategy for prenatal prediction of Duchenne and Becker muscular dystrophy

1 reference

12 December 2020

Germinal mosaicism in Duchenne muscular dystrophy

1 reference

12 December 2020

Direct method for prenatal diagnosis and carrier detection in Duchenne/Becker muscular dystrophy using the entire dystrophin cDNA

1 reference

12 December 2020

Prenatal diagnosis of Duchenne dystrophy

1 reference

12 December 2020

Recombination with pERT87 (DXS164) in families with X-linked muscular dystrophy

1 reference

12 December 2020

Localization and cloning of Xp21 deletion breakpoints involved in muscular dystrophy

1 reference

12 December 2020

Prenatal diagnosis and detection of carriers with DNA probes in Duchenne's muscular dystrophy

1 reference

12 December 2020

Report of the committee on human gene mapping by recombinant DNA techniques

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12 December 2020

Identifiers

0 references

1 reference

28 July 2017

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