Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome

BMC Medical Genetics

Volumn 14, Issue 1, 2013, Pages

  Gervasini, Cristina ^a   Picinelli, Chiara ^b   Azzollini, Jacopo ^a   Rusconi, Daniela ^a,b   Masciadri, Maura ^b   Cereda, Anna ^c   Marzocchi, Cinzia ^d   Zampino, Giuseppe ^e   Selicorni, Angelo ^c   Tenconi, Romano ^d   Russo, Silvia ^b   Larizza, Lidia ^a,b   Finelli, Palma ^a,b  

^a UNIVERSITY OF MILAN   (Italy)

^b ISTITUTO AUXOLOGICO ITALIANO   (Italy)

^c SAN GERARDO HOSPITAL   (Italy)

^d Genetica Clinica e Epidemiologica   (Italy)

^e CATHOLIC UNIVERSITY   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

NIPPED B LIKE PROTEIN; PROTEIN; SMC1A PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CELL CYCLE PROGRESSION; CHROMOSOME 17P; CHROMOSOME 19P; CHROMOSOME 20Q; CHROMOSOME 7P; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME MOSAICISM; CHROMOSOME REARRANGEMENT; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; DE LANGE SYNDROME; FEMALE; GENE MAPPING; GENE MUTATION; GENOMIC INSTABILITY; HUMAN; MALE; MOTHER; PHENOTYPE;

CELL CYCLE PROTEINS; CHILD; CHROMOSOMAL PROTEINS, NON-HISTONE; CHROMOSOMES, HUMAN, PAIR 1; CHROMOSOMES, HUMAN, PAIR 17; CHROMOSOMES, HUMAN, PAIR 19; CHROMOSOMES, HUMAN, PAIR 4; DE LANGE SYNDROME; DNA COPY NUMBER VARIATIONS; FEMALE; GENE DELETION; GENOMIC INSTABILITY; HUMANS; MALE; PHENOTYPE; PROTEINS; TRANSLOCATION, GENETIC; YOUNG ADULT;

EID: 84875685836     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-14-41     Document Type: Article

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