CCM3 mutations are associated with early-onset cerebral hemorrhage and multiple meningiomas

Molecular Syndromology

Volumn 4, Issue 4, 2013, Pages 165-172

  Riant, F ^a,b,c,d,n   Bergametti, F ^c,d   Fournier, H D ^e   Chapon, F ^g   Michalak Provost, S ^f   Cecillon, M ^a   Lejeune, P ^h   Hosseini, H ⁱ   Choe, C ^l   Orth, M ^m   Bernreuther, C ^l   Boulday, G ^c,d   Denier, C ^j   Labauge, P ^k   Tournier Lasserve, E ^a,b,c,d  

^a ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^b HÔPITAL FERNAND WIDAL   (France)

^c INSERM   (France)

^d UNIVERSITÉ PARIS DESCARTES   (France)

^e Service de Neurochirurgie   (France)

^f ANGERS UNIVERSITY HOSPITAL   (France)

^g CAEN UNIVERSITY HOSPITAL   (France)

^h Centre Hospitalier de la Roche sur Yon   (France)

ⁱ HENRI MONDOR HOSPITAL   (France)

^j BICÊTRE HOSPITAL   (France)

^k MONTPELLIER UNIVERSITY HOSPITAL   (France)

^l UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^m UNIVERSITY HOSPITAL ULM   (Germany)

ⁿ HÔPITAL LARIBOISIÈRE   (France)

more..

Author keywords

Cavernous angioma; CCM; CCM1; CCM2; KRIT1; Meningioma; PDCD10

Indexed keywords

BRAIN PROTEIN; CEREBRAL CAVERNOUS MALFORMATION 3 PROTEIN; GENOMIC DNA; UNCLASSIFIED DRUG;

ADULT; AGE; ARTICLE; BRAIN HEMORRHAGE; CLINICAL FEATURE; COHORT ANALYSIS; CONTROLLED STUDY; DNA SEQUENCE; FEMALE; GENE DELETION; GENETIC ASSOCIATION; GENETIC SCREENING; HISTOPATHOLOGY; HUMAN; MAJOR CLINICAL STUDY; MALE; MENINGIOMA; MUTATIONAL ANALYSIS; NEUROSURGERY; ONSET AGE; PATIENT REFERRAL; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; CAVERNOUS HEMANGIOMA; CCM3 GENE; CONTRAST ENHANCEMENT; GENE; GENE MUTATION; HAPLOTYPE; LOSS OF FUNCTION MUTATION; MULTIPLEX POLYMERASE CHAIN REACTION; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; QUANTITATIVE ANALYSIS; STOP CODON; TROCHLEAR NERVE PALSY;

EID: 84877247542     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000350042     Document Type: Article

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