(Q48315537)

English

Large germline deletions and duplication in isolated cerebral cavernous malformation patients.

scientific article published on 9 January 2007

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scholarly article

1 reference

Europe PubMed Central

10 February 2018

http://europepmc.org/abstract/MED/17211633

Large germline deletions and duplication in isolated cerebral cavernous malformation patients. (English)

1 reference

Europe PubMed Central

10 February 2018

http://europepmc.org/abstract/MED/17211633

author name string

U Felbor

1

1 reference

Europe PubMed Central

10 February 2018

http://europepmc.org/abstract/MED/17211633

S Gaetzner

2

1 reference

Europe PubMed Central

10 February 2018

http://europepmc.org/abstract/MED/17211633

D J Verlaan

3

1 reference

Europe PubMed Central

10 February 2018

http://europepmc.org/abstract/MED/17211633

R Vijzelaar

4

1 reference

Europe PubMed Central

10 February 2018

http://europepmc.org/abstract/MED/17211633

G A Rouleau

5

1 reference

Europe PubMed Central

10 February 2018

http://europepmc.org/abstract/MED/17211633

A M Siegel

6

1 reference

Europe PubMed Central

10 February 2018

http://europepmc.org/abstract/MED/17211633

publication date

9 January 2007

1 reference

Europe PubMed Central

10 February 2018

http://europepmc.org/abstract/MED/17211633

1 reference

Europe PubMed Central

10 February 2018

http://europepmc.org/abstract/MED/17211633

8

1 reference

Europe PubMed Central

10 February 2018

http://europepmc.org/abstract/MED/17211633

2

1 reference

Europe PubMed Central

10 February 2018

http://europepmc.org/abstract/MED/17211633

149-153

1 reference

Europe PubMed Central

10 February 2018

http://europepmc.org/abstract/MED/17211633

https://scigraph.springernature.com/pub.10.1007/s10048-006-0076-7

0 references

CCM1 mutation screen of sporadic cases with cerebral cavernous malformations.

1 reference

https://api.crossref.org/works/10.1007%2FS10048-006-0076-7

21 January 2018

Mutations within the MGC4607 gene cause cerebral cavernous malformations

1 reference

https://pubmed.ncbi.nlm.nih.gov/17211633

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Intracranial cavernous angioma: a practical review of clinical and biological aspects

1 reference

https://pubmed.ncbi.nlm.nih.gov/17211633

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17211633

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

CCM1 gene deletion identified by MLPA in cerebral cavernous malformation.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17211633

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mechanism and regulation of human non-homologous DNA end-joining

1 reference

https://pubmed.ncbi.nlm.nih.gov/17211633

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

1 reference

https://pubmed.ncbi.nlm.nih.gov/17211633

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

No CCM2 mutations in a cohort of 31 sporadic cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/17211633

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17211633

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17211633

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Non-recurrent 17p11.2 deletions are generated by homologous and non-homologous mechanisms

1 reference

https://pubmed.ncbi.nlm.nih.gov/17211633

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetics of cerebral cavernous angioma

1 reference

https://pubmed.ncbi.nlm.nih.gov/17211633

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hereditary cerebral cavernous angiomas: clinical and genetic features in 57 French families. Société Française de Neurochirurgie.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17211633

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17211633

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genotype-phenotype correlations in cerebral cavernous malformations patients.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17211633

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S10048-006-0076-7

1 reference

Europe PubMed Central

10 February 2018

http://europepmc.org/abstract/MED/17211633

1 reference

Europe PubMed Central

10 February 2018

http://europepmc.org/abstract/MED/17211633

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