An urgent need for a change in policy revealed by a study on prenatal testing for Duchenne muscular dystrophy (Q36466464)

14 August 2017

An urgent need for a change in policy revealed by a study on prenatal testing for Duchenne muscular dystrophy (English)

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Duchenne muscular dystrophy

14 August 2017

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inferred from title

author name string

Apollonia T J M Helderman-van den Enden

1

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14 August 2017

Kamlesh Madan

2

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14 August 2017

Martijn H Breuning

3

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14 August 2017

Annemieke H van der Hout

4

1 reference

14 August 2017

Egbert Bakker

5

1 reference

14 August 2017

Christine E M de Die-Smulders

6

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14 August 2017

Hendrika B Ginjaar

7

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14 August 2017

6 June 2012

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European Journal of Human Genetics

14 August 2017

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14 August 2017

21

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14 August 2017

1

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14 August 2017

21-26

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Systemic administration of PRO051 in Duchenne's muscular dystrophy

14 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522203

Carrier testing for severe childhood recessive diseases by next-generation sequencing

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522203

Antisense-mediated modulation of splicing: therapeutic implications for Duchenne muscular dystrophy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522203

Recurrence risk due to germ line mosaicism: Duchenne and Becker muscular dystrophy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522203

Genetic testing in asymptomatic minors: background considerations towards ESHG Recommendations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522203

Comparison of genetic services with and without genetic registers: access and attitudes to genetic counselling services among relatives of genetic clinic patients

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522203

Impact of genetic counselling after neonatal screening for Duchenne muscular dystrophy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522203

Population frequencies of inherited neuromuscular diseases—A world survey

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522203

Duchenne muscular dystrophy: a 30-year population-based incidence study.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522203

Rapid and cost effective detection of small mutations in the DMD gene by high resolution melting curve analysis

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522203

The Duchenne muscular dystrophy population in Denmark, 1977-2001: prevalence, incidence and survival in relation to the introduction of ventilator use.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522203

107th ENMC international workshop: the management of cardiac involvement in muscular dystrophy and myotonic dystrophy. 7th-9th June 2002, Naarden, the Netherlands.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522203

The rate of spontaneous mutation of a human gene

21 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2012.101

Maternal Plasma DNA Sequencing Reveals the Genome-Wide Genetic and Mutational Profile of the Fetus

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2012.101

Cardiomyopathy in a carrier of Duchenne's muscular dystrophy

21 January 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Birth and population prevalence of Duchenne muscular dystrophy in The Netherlands

1 reference

12 December 2020

[Genetic diagnosis of IVF embryos: preliminary results from 'preimplantation genetic diagnoses' in the Netherlands]

1 reference

12 December 2020

Cardiac involvement in carriers of Duchenne and Becker muscular dystrophy

1 reference

12 December 2020

Neonatal screening for Duchenne muscular dystrophy: a novel semiquantitative application of the bioluminescence test for creatine kinase in a pilot national program in Cyprus

1 reference

12 December 2020

Local dystrophin restoration with antisense oligonucleotide PRO051

1 reference

12 December 2020

Family communication about genetic risk information: particular issues for Duchenne muscular dystrophy

1 reference

12 December 2020

Best Practice Guidelines on molecular diagnostics in Duchenne/Becker muscular dystrophies

1 reference

12 December 2020

Cardiac abnormalities in a follow-up study on carriers of Duchenne and Becker muscular dystrophy

1 reference

12 December 2020

Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2012.101

1 reference

Dimensions Publication ID

14 August 2017

0 references

1 reference

14 August 2017

PubMed publication ID

22669413

1 reference