(Q48329080)

English

CCM1 gene deletion identified by MLPA in cerebral cavernous malformation.

scientific article published on 23 December 2006

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scholarly article

1 reference

Europe PubMed Central

10 February 2018

http://europepmc.org/abstract/MED/17187287

CCM1 gene deletion identified by MLPA in cerebral cavernous malformation. (English)

1 reference

Europe PubMed Central

10 February 2018

http://europepmc.org/abstract/MED/17187287

author name string

Sabine Gaetzner

1

1 reference

Europe PubMed Central

10 February 2018

http://europepmc.org/abstract/MED/17187287

Sonja Stahl

2

1 reference

Europe PubMed Central

10 February 2018

http://europepmc.org/abstract/MED/17187287

Oguzkan Sürücü

3

1 reference

Europe PubMed Central

10 February 2018

http://europepmc.org/abstract/MED/17187287

Anne Schaafhausen

4

1 reference

Europe PubMed Central

10 February 2018

http://europepmc.org/abstract/MED/17187287

Birgit Halliger-Keller

5

1 reference

Europe PubMed Central

10 February 2018

http://europepmc.org/abstract/MED/17187287

Helmut Bertalanffy

6

1 reference

Europe PubMed Central

10 February 2018

http://europepmc.org/abstract/MED/17187287

Ulrich Sure

7

1 reference

Europe PubMed Central

10 February 2018

http://europepmc.org/abstract/MED/17187287

Ute Felbor

8

1 reference

Europe PubMed Central

10 February 2018

http://europepmc.org/abstract/MED/17187287

publication date

23 December 2006

1 reference

Europe PubMed Central

10 February 2018

http://europepmc.org/abstract/MED/17187287

Neurosurgical Review

1 reference

Europe PubMed Central

10 February 2018

http://europepmc.org/abstract/MED/17187287

30

1 reference

Europe PubMed Central

10 February 2018

http://europepmc.org/abstract/MED/17187287

2

1 reference

Europe PubMed Central

10 February 2018

http://europepmc.org/abstract/MED/17187287

155-9; discussion 159-60

1 reference

Europe PubMed Central

10 February 2018

http://europepmc.org/abstract/MED/17187287

Mutations within the MGC4607 gene cause cerebral cavernous malformations

1 reference

https://pubmed.ncbi.nlm.nih.gov/17187287

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of large deletions in the LDL receptor gene with quantitative PCR methods

1 reference

https://pubmed.ncbi.nlm.nih.gov/17187287

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Krit1 missense mutations lead to splicing errors in cerebral cavernous malformation

1 reference

https://pubmed.ncbi.nlm.nih.gov/17187287

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

CCM3 mutations are uncommon in cerebral cavernous malformations

1 reference

https://pubmed.ncbi.nlm.nih.gov/17187287

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/17187287

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17187287

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/17187287

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/17187287

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Spectrum of single- and multiexon NF1 copy number changes in a cohort of 1,100 unselected NF1 patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/17187287

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletion and duplication screening in the DMD gene using MLPA.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17187287

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/17187287

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical impact of CCM mutation detection in familial cavernous angioma.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17187287

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in apoptosis-related gene, PDCD10, cause cerebral cavernous malformation 3.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17187287

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17187287

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17187287

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S10143-006-0057-1

1 reference

Europe PubMed Central

10 February 2018

http://europepmc.org/abstract/MED/17187287

1 reference

Europe PubMed Central

10 February 2018

http://europepmc.org/abstract/MED/17187287

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