(Q33597601)

28 July 2017

title

Genetic counselling in facioscapulohumeral muscular dystrophy (English)

1 reference

facioscapulohumeral muscular dystrophy

28 July 2017

main subject

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author name string

Lunt PW

series ordinal

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28 July 2017

Harper PS

series ordinal

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28 July 2017

language of work or name

English

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publication date

1 October 1991

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Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

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28 July 2017

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28 July 2017

page(s)

655-664

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Formal genetics of muscular dystrophy

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=1017051

Genetic-epidemiological studies in progressive muscular dystrophy

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017051

The facio-scapulo-limb (or the facioscapulohumeral) type of muscular dystrophy. Clinical and genetic study of 200 cases.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017051

Facioscapulohumeral dystrophy presenting in infancy with facial diplegia and sensorineural deafness

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017051

Hearing loss in facioscapulohumeral dystrophy

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017051

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017051

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017051

Linkage analysis in the spinal muscular atrophy type of facioscapulohumeral disease.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017051

Emotional facial paresis with striatocapsular infarction

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017051

Location of facioscapulohumeral muscular dystrophy gene on chromosome 4.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017051

A closely linked DNA marker for facioscapulohumeral disease on chromosome 4q.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017051

Chronic spinal muscular atrophy of facioscapulohumeral type

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017051

Coats' disease and muscular dystrophy

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017051

Neurogenic atrophy simulating facioscapulohumeral dystrophy. A dominant form

30 October 2018

1 reference

12 December 2020

Creatine Phosphokinase in Facioscapulohumeral Muscular Dystrophy

1 reference

12 December 2020

The myogenic scapulo-peroneal syndrome. Muscular dystrophy in the K. kindred: clinical study and genetics

1 reference

12 December 2020

Thoracoscapular fusion for facioscapulohumeral dystrophy

1 reference

12 December 2020

Death in childhood due to facio-scapulo-humeral dystrophy

1 reference

12 December 2020

Infantile facioscapulohumeral muscular dystrophy: new observations

1 reference

12 December 2020

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

1 reference

12 December 2020

Xp21 DNA PROBE IN DIAGNOSIS OF MUSCULAR DYSTROPHY AND SPINAL MUSCULAR ATROPHY

1 reference

12 December 2020

DNA marker applicable to presymptomatic and prenatal diagnosis of facioscapulohumeral disease

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.28.10.655

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28 July 2017

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28 July 2017

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