(Q74432086)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11525880%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

title

Genetic characterization of a large, historically significant Utah kindred with facioscapulohumeral dystrophy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11525880%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

1

1 reference

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10 November 2019

author name string

C M Coffeen

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11525880%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

L Sexton

3

1 reference

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10 November 2019

D Stauffer

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11525880%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

S Brunner

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11525880%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

M F Leppert

6

1 reference

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10 November 2019

publication date

1 September 2001

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11525880%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

published in

Neuromuscular Disorders

1 reference

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10 November 2019

volume

11

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10 November 2019

issue

6-7

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10 November 2019

page(s)

525-529

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Facioscapulohumeral dystrophy: a distinct regional myopathy with a novel molecular pathogenesis. FSH Consortium

10 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900201-2

7 January 2021

Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900201-2

7 January 2021

Position effects on eukaryotic gene expression

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900201-2

7 January 2021

Heterochromatin and gene expression in Drosophila

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900201-2

7 January 2021

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://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900201-2

7 January 2021

Direct detection of 4q35 rearrangements implicated in facioscapulohumeral muscular dystrophy (FSHD)

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900201-2

7 January 2021

Molecular genetics of facioscapulohumeral muscular dystrophy (FSHD)

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900201-2

7 January 2021

Improved molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD): validation of the differential double digestion for FSHD

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900201-2

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900201-2

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900201-2

7 January 2021

Studies in disorders of muscle; the problem of progressive muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900201-2

7 January 2021

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://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900201-2

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900201-2

7 January 2021

10.1016/S0960-8966(01)00201-2

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11525880%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

1 reference