Cerebral cavernous malformation: novel mutation in a Chinese family and evidence for heterogeneity. (Q48628113)

13 February 2018

title

Cerebral cavernous malformation: novel mutation in a Chinese family and evidence for heterogeneity. (English)

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13 February 2018

author name string

Dong-Hui Chen

1

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13 February 2018

Hillary P Lipe

2

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13 February 2018

Zhen Qin

3

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13 February 2018

Thomas D Bird

4

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13 February 2018

publication date

1 April 2002

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13 February 2018

Journal of the Neurological Sciences

published in

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13 February 2018

volume

196

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13 February 2018

issue

1-2

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13 February 2018

page(s)

91-96

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13 February 2018

Cavernous angioma: a review of 126 collected and 12 new clinical cases

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900031-X

Cavernomas of the central nervous system: clinical and neuroimaging manifestations in 47 patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900031-X

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900031-X

Familial cavernous angiomas

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900031-X

Cerebral cavernous malformations. Incidence and familial occurrence

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900031-X

A locus for cerebral cavernous malformations maps to chromosome 7q in two families

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900031-X

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900031-X

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900031-X

A founder mutation as a cause of cerebral cavernous malformation in Hispanic Americans

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900031-X

Linkage of the locus for cerebral cavernous hemangiomas to human chromosome 7q in four families of Mexican-American descent.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900031-X

Mutations in KRIT1 in familial cerebral cavernous malformations.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900031-X

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900031-X

Computational and experimental analyses reveal previously undetected coding exons of the KRIT1 (CCM1) gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900031-X

Identification of eight novel 5'-exons in cerebral capillary malformation gene-1 (CCM1) encoding KRIT1

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900031-X

Blue rubber bleb nevus syndrome in a patient with ataxia and dementia.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900031-X

KRIT1 is mutated in hyperkeratotic cutaneous capillary-venous malformation associated with cerebral capillary malformation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900031-X

Cavernous angiomatosis of the central nervous system: usefulness of screening the family

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900031-X

Familial cerebral cavernous angiomas: clinical and radiologic studies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900031-X

Recent insights into neurofibromatosis type 1: clear genetic progress.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900031-X

New developments in the neurobiology of the tuberous sclerosis complex

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900031-X

Inhibition of transcription elongation by the VHL tumor suppressor protein

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900031-X

Blue rubber bleb nevus syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900031-X

Blue rubber bleb nevus syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900031-X

Central nervous system involvement in blue-rubber-bleb-nevus syndrome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900031-X

Blue rubber bleb nevus syndrome with CNS involvement and thrombosis of a vein of galen malformation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900031-X

10.1016/S0022-510X(02)00031-X

7 January 2021

Identifiers

DOI

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13 February 2018

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13 February 2018