(Q60181991)

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25 January 2020

title

De novo MGC4607 gene heterozygous missense variants in a child with multiple cerebral cavernous malformations (English)

1 reference

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25 January 2020

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1

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25 January 2020

Claudia Tarlarini

4

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25 January 2020

Valeria Capra

6

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25 January 2020

Marco Pavanello

8

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25 January 2020

Silvana Penco

10

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25 January 2020

author name string

Silvana Pileggi

2

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25 January 2020

Francesca Avemaria

3

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25 January 2020

Maria Sole Cigoli

5

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25 January 2020

Patrizia De Marco

7

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25 January 2020

Alessandro Marocchi

9

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25 January 2020

publication date

14 March 2012

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Journal of Molecular Neuroscience

25 January 2020

published in

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25 January 2020

volume

47

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25 January 2020

issue

3

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25 January 2020

page(s)

475-480

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https://scigraph.springernature.com/pub.10.1007/s12031-012-9741-5

25 January 2020

exact match

0 references

cites work

CCM2 expression during prenatal development and adult human neocortex

1 reference

12 December 2020

Identification of two novel mutations and of a novel critical region in the KRIT1 gene.

1 reference

12 December 2020

Highly variable penetrance in subjects affected with cavernous cerebral angiomas (CCM) carrying novel CCM1 and CCM2 mutations.

1 reference

12 December 2020

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

1 reference

12 December 2020

Economic burden of intracranial vascular malformations in adults: prospective population-based study

1 reference

12 December 2020

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

1 reference

12 December 2020

The natural history of intracranial cavernous malformations

1 reference

12 December 2020

Genetics of cavernous angiomas

1 reference

12 December 2020

Crystal structure of CCM3, a cerebral cavernous malformation protein critical for vascular integrity

1 reference

12 December 2020

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

12 December 2020

Advances in the biology of cerebral cavernous malformations

1 reference

12 December 2020

Cerebral cavernous malformation: new molecular and clinical insights

1 reference

12 December 2020

Genetic Variations Within KRIT1/CCM1, MGC4607/CCM2 and PDCD10/CCM3 in a Large Italian Family Harbouring a Krit1/CCM1 Mutation

1 reference

12 December 2020

CCM1 gene mutations in families segregating cerebral cavernous malformations

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12 December 2020

Different spectra of genomic deletions within the CCM genes between Italian and American CCM patient cohorts

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12 December 2020

Familial cerebral cavernous malformation: report of a further Italian family.

1 reference

12 December 2020

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

1 reference

12 December 2020

Small deletion at the 7q21.2 locus in a CCM family detected by real-time quantitative PCR

1 reference

12 December 2020

Aberrant splicing due to a silent nucleotide change in CCM2 gene in a family with cerebral cavernous malformation.

1 reference

12 December 2020

Mutation analysis of CCM1, CCM2 and CCM3 genes in a cohort of Italian patients with cerebral cavernous malformation.

1 reference

12 December 2020

Cerebral cavernous malformations: from genes to proteins to disease

1 reference

12 December 2020

Evaluating strategies for the treatment of cerebral cavernous malformations

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12 December 2020

Molecular screening test in familial forms of cerebral cavernous malformation: the impact of the Multiplex Ligation-dependent Probe Amplification approach.

1 reference

12 December 2020

Novel CCM1, CCM2, and CCM3 mutations in patients with cerebral cavernous malformations: in-frame deletion in CCM2 prevents formation of a CCM1/CCM2/CCM3 protein complex

1 reference

12 December 2020

Identification of a novel KRIT1 mutation in an Italian family with cerebral cavernous malformation by the protein truncation test

1 reference

12 December 2020

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

1 reference

12 December 2020

Clinical, magnetic resonance imaging, and genetic study of 5 Italian families with cerebral cavernous malformation.

1 reference

12 December 2020

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

1 reference

12 December 2020

Management of incidentally discovered intracranial vascular abnormalities

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12 December 2020

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

1 reference

12 December 2020

10.1007/S12031-012-9741-5

Identifiers

DOI

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25 January 2020

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