(Q52805084)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17345049%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

title

Study of cerebral cavernous malformation in Spain and Portugal: high prevalence of a 14 bp deletion in exon 5 of MGC4607 (CCM2 gene) (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17345049%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

0 references

10

1 reference

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26 December 2019

Elizabeth Pintado

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17345049%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

Miguel Angel Gamero

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17345049%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

7

Guillermo Izquierdo

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17345049%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

author name string

Lucía Ortiz

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17345049%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

Alzenira F Costa

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17345049%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

María L Bellido

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17345049%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

Francisca Solano

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17345049%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

Jose M García-Moreno

5

1 reference

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26 December 2019

Amal Chadli

8

1 reference

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26 December 2019

Filipa Falcao

9

1 reference

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26 December 2019

Javier Salas

11

1 reference

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26 December 2019

Jose C Alvarez-Cermeño

12

1 reference

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26 December 2019

Mariano Montori

13

1 reference

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26 December 2019

María A Ramos-Arroyo

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17345049%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

Alfredo Palomino

15

1 reference

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26 December 2019

Miguel Lucas

17

1 reference

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26 December 2019

publication date

7 March 2007

1 reference

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26 December 2019

1 reference

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26 December 2019

volume

254

1 reference

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26 December 2019

issue

3

1 reference

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26 December 2019

page(s)

322-326

1 reference

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https://scigraph.springernature.com/pub.10.1007/s00415-006-0359-9

26 December 2019

exact match

0 references

cites work

Mutations within the MGC4607 gene cause cerebral cavernous malformations

1 reference

12 December 2020

Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, cause cerebral cavernous malformations (CCM1)

1 reference

12 December 2020

Germline mutations in the CCM1 gene, encoding Krit1, cause cerebral cavernous malformations

1 reference

12 December 2020

Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27.

1 reference

12 December 2020

Spanish families with cavernous angiomas do not share the Hispano-American CCM1 haplotype

1 reference

12 December 2020

Krit1 missense mutations lead to splicing errors in cerebral cavernous malformation

1 reference

12 December 2020

CCM3 mutations are uncommon in cerebral cavernous malformations

1 reference

12 December 2020

Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations

1 reference

12 December 2020

Low frequency of PDCD10 mutations in a panel of CCM3 probands: potential for a fourth CCM locus

1 reference

12 December 2020

Spanish families with cerebral cavernous angioma do not bear 742C-->T Hispanic American mutation of the KRIT1 gene

1 reference

12 December 2020

Truncating mutations in CCM1, encoding KRIT1, cause hereditary cavernous angiomas

1 reference

12 December 2020

Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations

1 reference

12 December 2020

Spectrum and expression analysis of KRIT1 mutations in 121 consecutive and unrelated patients with Cerebral Cavernous Malformations.

1 reference

12 December 2020

CCM1 and CCM2 protein interactions in cell signaling: implications for cerebral cavernous malformations pathogenesis

1 reference

12 December 2020