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

Penco, Silvana; Ratti, Rachele; Bianchi, Elena; Citterio, Alberto; Patrosso, Maria Cristina; Marocchi, Alessandro; Tassi, Laura; La Camera, Alessandro; Collice, Massimo

Penco, Silvana; Ratti, Rachele; Bianchi, Elena; Citterio, Alberto; Patrosso, Maria Cristina; Marocchi, Alessandro; Tassi, Laura; La Camera, Alessandro; Collice, Massimo.

Affiliation

Penco S; Department of Laboratory Medicine, Medical Genetics, Niguarda Ca' Granda Hospital Milano, Piazza Ospedale Maggiore 3, 20162 Milan, Italy. Silvana.Penco@ospedaleniguarda.it

J Neurosurg ; 110(5): 929-34, 2009 May.

Article in En | MEDLINE | ID: mdl-19199464

Subject(s)

Apoptosis Regulatory Proteins/genetics; Brain Neoplasms/genetics; Carrier Proteins/genetics; Hemangioma, Cavernous/genetics; Membrane Proteins/genetics; Microtubule-Associated Proteins/genetics; Proto-Oncogene Proteins/genetics; Female; Heterozygote; Humans; KRIT1 Protein; Male; Molecular Probes; Mutation; Nucleic Acid Amplification Techniques; Young Adult

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Brain Neoplasms / Carrier Proteins / Proto-Oncogene Proteins / Apoptosis Regulatory Proteins / Hemangioma, Cavernous / Membrane Proteins / Microtubule-Associated Proteins Type of study: Diagnostic_studies / Prognostic_studies / Screening_studies Limits: Adult / Female / Humans / Male Language: En Journal: J Neurosurg Year: 2009 Type: Article Affiliation country: Italy

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