Predictive genetic testing of at-risk relatives requires analysis of all CCM genes after identification of an unclassified CCM1 variant in an individual affected with cerebral cavernous malformations.

Schröder, Winnie; Najm, Juliane; Spiegler, Stefanie; Mair, Martina; Viera, Julio; Henn, Wolfram; Felbor, Ute

Schröder, Winnie; Najm, Juliane; Spiegler, Stefanie; Mair, Martina; Viera, Julio; Henn, Wolfram; Felbor, Ute.

Affiliation

Schröder W; Department of Human Genetics, University Medicine Greifswald and Interfaculty Institute of Genetics and Functional Genomics, University of Greifswald, 17475, Greifswald, Germany.

Neurosurg Rev ; 37(1): 161-5, 2014 Jan.

Article in En | MEDLINE | ID: mdl-23722637

Subject(s)

Hemangioma, Cavernous, Central Nervous System/genetics; Microtubule-Associated Proteins/genetics; Proto-Oncogene Proteins/genetics; Apoptosis Regulatory Proteins/genetics; Carrier Proteins/genetics; DNA Mutational Analysis; Female; Genetic Testing; Genetic Variation; Hemangioma, Cavernous, Central Nervous System/diagnosis; Humans; KRIT1 Protein; Magnetic Resonance Imaging; Membrane Proteins/genetics; Middle Aged; Mutation, Missense; Predictive Value of Tests; Risk Assessment

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Proto-Oncogene Proteins / Hemangioma, Cavernous, Central Nervous System / Microtubule-Associated Proteins Type of study: Diagnostic_studies / Etiology_studies / Prognostic_studies / Risk_factors_studies Limits: Female / Humans / Middle aged Language: En Journal: Neurosurg Rev Year: 2014 Type: Article Affiliation country: Germany

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