CCM1 gene deletion identified by MLPA in cerebral cavernous malformation (Q48329080)

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scientific article published on 23 December 2006

Language	Label	Description	Also known as
English	CCM1 gene deletion identified by MLPA in cerebral cavernous malformation	scientific article published on 23 December 2006

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

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

PubMed publication ID

10 February 2018

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

author name string

Sabine Gaetzner

1

1 reference

Europe PubMed Central

PubMed publication ID

10 February 2018

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

Sonja Stahl

2

1 reference

Europe PubMed Central

PubMed publication ID

10 February 2018

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

Oguzkan Sürücü

3

1 reference

Europe PubMed Central

PubMed publication ID

10 February 2018

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

Anne Schaafhausen

4

1 reference

Europe PubMed Central

PubMed publication ID

10 February 2018

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

Birgit Halliger-Keller

5

1 reference

Europe PubMed Central

PubMed publication ID

10 February 2018

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

Helmut Bertalanffy

6

1 reference

Europe PubMed Central

PubMed publication ID

10 February 2018

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

Ulrich Sure

7

1 reference

Europe PubMed Central

PubMed publication ID

10 February 2018

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

Ute Felbor

8

1 reference

Europe PubMed Central

PubMed publication ID

10 February 2018

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

publication date

23 December 2006

1 reference

Europe PubMed Central

PubMed publication ID

10 February 2018

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

Neurosurgical Review

1 reference

Europe PubMed Central

PubMed publication ID

10 February 2018

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

30

1 reference

Europe PubMed Central

PubMed publication ID

10 February 2018

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

2

1 reference

Europe PubMed Central

PubMed publication ID

10 February 2018

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

155-9; discussion 159-60

1 reference

Europe PubMed Central

PubMed publication ID

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

PubMed publication ID

10 February 2018

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

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

10 February 2018

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

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