(Q51069290)

28 March 2018

title

Two-hit mechanism in cerebral cavernous malformation? A case of monozygotic twins with a CCM1/KRIT1 germline mutation. (English)

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28 March 2018

author name string

Philipp Dammann

1

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28 March 2018

Ute Hehr

2

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28 March 2018

Sabine Weidensee

3

1 reference

28 March 2018

Yuan Zhu

4

1 reference

28 March 2018

Rüdiger Gerlach

5

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28 March 2018

Ulrich Sure

6

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28 March 2018

publication date

13 April 2013

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28 March 2018

published in

Neurosurgical Review

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28 March 2018

volume

36

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28 March 2018

issue

3

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28 March 2018

page(s)

483-486

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28 March 2018

Biallelic somatic and germline mutations in cerebral cavernous malformations (CCMs): evidence for a two-hit mechanism of CCM pathogenesis

cites work

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https://api.crossref.org/works/10.1007%2FS10143-013-0456-Z

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Cerebral cavernous malformations: somatic mutations in vascular endothelial cells

21 January 2018

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Biallelic somatic and germ line CCM1 truncating mutations in a cerebral cavernous malformation lesion.

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10143-013-0456-Z

Mutation and cancer: statistical study of retinoblastoma

21 January 2018

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The natural history of cerebral cavernous malformations

21 January 2018

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Genetics of cavernous angiomas

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10143-013-0456-Z

A novel mouse model of cerebral cavernous malformations based on the two-hit mutation hypothesis recapitulates the human disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10143-013-0456-Z

A two-hit mechanism causes cerebral cavernous malformations: complete inactivation of CCM1, CCM2 or CCM3 in affected endothelial cells

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10143-013-0456-Z

Cerebral cavernous malformation: new molecular and clinical insights

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10143-013-0456-Z

Recent insights into cerebral cavernous malformations: the molecular genetics of CCM.

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10143-013-0456-Z

Cerebral cavernous malformations. Incidence and familial occurrence

21 January 2018

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[131 cases of cavernous angioma (cavernomas) of the CNS, discovered by retrospective analysis of 24,535 autopsies]

21 January 2018

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12 December 2020

The natural history of familial cavernous malformations: results of an ongoing study

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12 December 2020

Spectrum of genotype and clinical manifestations in cerebral cavernous malformations

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12 December 2020

Endothelial proliferation, neoangiogenesis, and potential de novo generation of cerebrovascular malformations

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12 December 2020

CCM2 gene polymorphisms in Italian sporadic patients with cerebral cavernous malformation: a case-control study

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12 December 2020

10.1007/S10143-013-0456-Z

Identifiers

DOI

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28 March 2018

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28 March 2018