(Q57640097)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10487912%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

title

Inheritance of a 38-kb fragment in apparently sporadic facioscapulohumeral muscular dystrophy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10487912%20AND%20SRC:MED&resulttype=core&format=json

facioscapulohumeral muscular dystrophy

31 October 2019

main subject

0 references

author

Luciano Merlini

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10487912%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

Alessandra Renieri

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10487912%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

author name string

Francesca Vitelli

1

0 references

Marcello Villanova

2

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Alessandro Malandrini

3

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Mirella Bruttini

4

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Monica Piccini

5

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Luciano Merlini

6

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Giancarlo Guazzi

7

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Alessandra Renieri

8

0 references

F Vitelli

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10487912%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

M Villanova

2

1 reference

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31 October 2019

A Malandrini

3

1 reference

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31 October 2019

M Bruttini

4

1 reference

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31 October 2019

M Piccini

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10487912%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

G Guazzi

7

1 reference

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31 October 2019

publication date

October 1999

0 references

1 October 1999

1 reference

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31 October 2019

1 reference

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31 October 2019

volume

22

1 reference

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31 October 2019

issue

10

1 reference

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31 October 2019

page(s)

1437-1441

1 reference

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Beevor's sign and facioscapulohumeral dystrophy

31 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199910%2922%3A10%3C1437%3A%3AAID-MUS15%3E3.0.CO%3B2-7

The FSHD-linked locus D4F104S1 (p13E-11) on 4q35 has a homologue on 10qter

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199910%2922%3A10%3C1437%3A%3AAID-MUS15%3E3.0.CO%3B2-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199910%2922%3A10%3C1437%3A%3AAID-MUS15%3E3.0.CO%3B2-7

Epilepsy and mental retardation in a subset of early onset 4q35-facioscapulohumeral muscular dystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199910%2922%3A10%3C1437%3A%3AAID-MUS15%3E3.0.CO%3B2-7

Genetics of facioscapulohumeral muscular dystrophy: new mutations in sporadic cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199910%2922%3A10%3C1437%3A%3AAID-MUS15%3E3.0.CO%3B2-7

Genetic counselling in facioscapulohumeral muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199910%2922%3A10%3C1437%3A%3AAID-MUS15%3E3.0.CO%3B2-7

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)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199910%2922%3A10%3C1437%3A%3AAID-MUS15%3E3.0.CO%3B2-7

Familial facioscapulohumeral muscular dystrophy: phenotypic diversity and genetic abnormality

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199910%2922%3A10%3C1437%3A%3AAID-MUS15%3E3.0.CO%3B2-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199910%2922%3A10%3C1437%3A%3AAID-MUS15%3E3.0.CO%3B2-7

Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199910%2922%3A10%3C1437%3A%3AAID-MUS15%3E3.0.CO%3B2-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199910%2922%3A10%3C1437%3A%3AAID-MUS15%3E3.0.CO%3B2-7

Evidence for subtelomeric exchange of 3.3 kb tandemly repeated units between chromosomes 4q35 and 10q26: implications for genetic counselling and etiology of FSHD1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199910%2922%3A10%3C1437%3A%3AAID-MUS15%3E3.0.CO%3B2-7

FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199910%2922%3A10%3C1437%3A%3AAID-MUS15%3E3.0.CO%3B2-7

Location of facioscapulohumeral muscular dystrophy gene on chromosome 4.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199910%2922%3A10%3C1437%3A%3AAID-MUS15%3E3.0.CO%3B2-7

Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199910%2922%3A10%3C1437%3A%3AAID-MUS15%3E3.0.CO%3B2-7

Mapping of facioscapulohumeral muscular dystrophy gene to chromosome 4q35-qter by multipoint linkage analysis and in situ hybridization

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199910%2922%3A10%3C1437%3A%3AAID-MUS15%3E3.0.CO%3B2-7

10.1002/(SICI)1097-4598(199910)22:10<1437::AID-MUS15>3.0.CO;2-7

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10487912%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

1 reference