De Novo MGC4607 Gene Heterozygous Missense Variants in a Child with Multiple Cerebral Cavernous Malformations (Q60181991)

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title

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

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1

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Claudia Tarlarini

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Valeria Capra

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Marco Pavanello

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Silvana Penco

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author name string

Silvana Pileggi

2

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Francesca Avemaria

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Maria Sole Cigoli

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Patrizia De Marco

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Alessandro Marocchi

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publication date

14 March 2012

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Journal of Molecular Neuroscience

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published in

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volume

47

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issue

3

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page(s)

475-480

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

25 January 2020

exact match

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cites work

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

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

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CCM1 gene mutations in families segregating cerebral cavernous malformations

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

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

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

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Evaluating strategies for the treatment of cerebral cavernous malformations

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

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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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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

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Management of incidentally discovered intracranial vascular abnormalities

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

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10.1007/S12031-012-9741-5

Identifiers

DOI

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