Estimation of age dependent penetrance in facioscapulohumeral muscular dystrophy by minimising ascertainment bias (Q33593427)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2614794 AND SRC:MED&resulttype=core&format=json

1 October 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2614794 AND SRC:MED&resulttype=core&format=json

facioscapulohumeral muscular dystrophy

1 October 2019

main subject

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1 reference

P W Lunt

1

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1 October 2019

D A Compston

series ordinal

2

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1 October 2019

P S Harper

series ordinal

3

1 reference

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1 October 2019

language of work or name

English

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publication date

1 December 1989

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Journal of Medical Genetics

1 October 2019

published in

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1 October 2019

volume

26

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1 October 2019

issue

12

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1 October 2019

page(s)

755-760

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Discrimination of genetic entities in muscular dystrophy

1 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=1015755

Clinical features and classification of the muscular dystrophies

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015755

The use of life tables and survival analysis in testing genetic hypotheses, with an application to Alzheimer's disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015755

Genetic-epidemiological studies in progressive muscular dystrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015755

Retinal vascular abnormalities in facioscapulohumeral muscular dystrophy. A general association with genetic and therapeutic implications

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015755

Modern methods of diagnosis of muscle diseases.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015755

A pedigree of hereditary progressive muscular dystrophy

21 June 2018

1 reference

12 December 2020

STUDIES IN DISORDERS OF MUSCLE. II. CLINICAL MANIFESTATIONS AND INHERITANCE OF FACIOSCAPULOHUMERAL DYSTROPHY IN A LARGE FAMILY

1 reference

12 December 2020

DNA probes in differential diagnosis of Becker muscular dystrophy and spinal muscular atrophy

1 reference

12 December 2020

Infantile facioscapulohumeral muscular dystrophy: new observations

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.26.12.755

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2614794 AND SRC:MED&resulttype=core&format=json

1 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2614794 AND SRC:MED&resulttype=core&format=json

1 October 2019

PubMed publication ID

2614794

1 reference