Common somatic alterations identified in maffucci syndrome by molecular karyotyping

Molecular Syndromology

Volumn 5, Issue 6, 2014, Pages 259-267

  Amyere, Mustapha ^a   Dompmartin, Anne ^d   Wouters, Vinciane ^a   Enjolras, Odile ^e   Kaitila, Ilkka ^f   Docquier, Pierre Louis ^b   Godfraind, Catherine ^b   Mulliken, John Butler ^g   Boon, Laurence Myriam ^a,c   Vikkula, Miikka ^a,b  

^a DE DUVE INSTITUTE   (Belgium)

^b UNIVERSITÉ CATHOLIQUE DE LOUVAIN   (Belgium)

^c CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

^d CAEN UNIVERSITY HOSPITAL   (France)

^e HÔPITAL LARIBOISIÈRE   (France)

^f HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^g BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

Cancer; Chondrosarcoma; Copy number variation; Defect; Enchondroma; Enchondromatosis; Gene; Microarray; Mutation; Spindle cell hemangiomas

Indexed keywords

DNA;

ACUTE MYELOBLASTIC LEUKEMIA; ARTICLE; CHONDROSARCOMA; CHROMOSOME 10; CHROMOSOME 12; CHROMOSOME 13; CHROMOSOME 14Q; CHROMOSOME 19; CHROMOSOME 2P; CHROMOSOME 2Q; CHROMOSOME 3; CHROMOSOME 6; CHROMOSOME 9; CHROMOSOME ABERRATION; CHROMOSOME DELETION; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL BLOOD VESSEL MALFORMATION; CONTROLLED STUDY; COPY NUMBER VARIATION; ENCHONDROMA; FEMALE; GENE AMPLIFICATION; GENETIC SCREENING; HEMANGIOMA; HETEROZYGOSITY LOSS; HUMAN; HUMAN TISSUE; KARYOTYPING; MALE; MUTATIONAL ANALYSIS; OSTEOCHONDROMA; PATHOGENESIS; SINGLE NUCLEOTIDE POLYMORPHISM; SOMATIC MUTATION; UNIPARENTAL DISOMY; VON WILLEBRAND DISEASE;

EID: 84919796727     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000365898     Document Type: Article

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