Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations

Human Mutation

Volumn 36, Issue 8, 2015, Pages 787-796

  Martinelli, Simone ^a   Stellacci, Emilia ^a   Pannone, Luca ^a,b   D'Agostino, Daniela ^c   Consoli, Federica ^b,d   Lissewski, Christina ^e   Silvano, Marianna ^a,b   Cencelli, Giulia ^a   Lepri, Francesca ^f   Maitz, Silvia ^g   Pauli, Silke ^h   Rauch, Anita ⁱ   Zampino, Giuseppe ^j   Selicorni, Angelo ^g   Melançon, Serge ^c   Digilio, Maria C ^f   Gelb, Bruce D ^k   De Luca, Alessandro ^d   Dallapiccola, Bruno ^f   Zenker, Martin ^e   Tartaglia, Marco ^a   more..

^a ISTITUTO SUPERIORE DI SANITÀ   (Italy)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

^c MONTREAL CHILDREN S HOSPITAL   (Canada)

^d CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^e UNIVERSITY HOSPITAL MAGDEBURG   (Germany)

^f BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^g SAN GERARDO HOSPITAL   (Italy)

^h UNIVERSITY OF GÖTTINGEN   (Germany)

ⁱ UNIVERSITY OF ZURICH   (Switzerland)

^j CATHOLIC UNIVERSITY   (Italy)

^k MOUNT SINAI SCHOOL OF MEDICINE   (United States)

more..

Author keywords

CBL mutation associated syndrome; Genotype phenotype correlations; Noonan syndrome; RAS MAPK

Indexed keywords

CBL PROTEIN; CBL PROTEIN, HUMAN;

ARTICLE; CANCER SUSCEPTIBILITY; CHILD; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; CRYPTORCHISM; FEMALE; GENE DELETION; GENE IDENTIFICATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENOTYPE PHENOTYPE CORRELATION; GERMLINE MUTATION; HUMAN; HUMAN CELL; INFANT; JUVENILE MYELOMONOCYTIC LEUKEMIA; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NOONAN SYNDROME; OVERLAPPING GENE; PHENOTYPE; PHENOTYPIC VARIATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTO ONCOGENE; RING FINGER MOTIF; RNA SPLICING; GENETIC ASSOCIATION STUDY; GENETIC VARIATION; GENETICS; METABOLISM; PATHOPHYSIOLOGY;

CHILD, PRESCHOOL; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC VARIATION; GERM-LINE MUTATION; HUMANS; MALE; NOONAN SYNDROME; PROTO-ONCOGENE PROTEINS C-CBL;

EID: 84937733742     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22809     Document Type: Article

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