Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism

European Journal of Human Genetics

Volumn 23, Issue 11, 2015, Pages 1523-1530

  Amitrano, Sara ^a,b   Marozza, Annabella ^b   Somma, Serena ^a,b   Imperatore, Valentina ^a   Hadjistilianou, Theodora ^c   De Francesco, Sonia ^c   Toti, Paolo ^a   Galimberti, Daniela ^b   Meloni, Ilaria ^a   Cetta, Francesco ^d   Piu, Pietro ^c   Di Marco, Chiara ^a,b   Dosa, Laura ^a,b   Lo Rizzo, Caterina ^a,b   Carignani, Giulia ^a,b   Mencarelli, Maria Antonietta ^a,b   Mari, Francesca ^a,b   Renieri, Alessandra ^a,b   Ariani, Francesca ^a  

^a UNIVERSITY OF SIENA   (Italy)

^b UNIVERSITY HOSPITAL OF SIENA   (Italy)

^c UNIVERSITY OF SIENA   (Italy)

^d IRCCS MULTIMEDICA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; RETINOBLASTOMA BINDING PROTEIN 1; RETINOBLASTOMA PROTEIN;

ADOLESCENT; ADULT; ARTICLE; BLOOD CELL; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DNA EXTRACTION; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC VARIABILITY; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; LYMPHOCYTE; MALE; MOLECULAR DIAGNOSIS; MOSAICISM; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NEXT GENERATION SEQUENCING; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINOBLASTOMA; SCHOOL CHILD; SPORADIC RETINOBLASTOMA; URINALYSIS; ALLELE; GENETICS; GERMLINE MUTATION; HIGH THROUGHPUT SEQUENCING; PATHOPHYSIOLOGY;

ADOLESCENT; ADULT; ALLELES; CHILD; CHILD, PRESCHOOL; FEMALE; GERM-LINE MUTATION; HETEROZYGOTE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; MOSAICISM; RETINOBLASTOMA; RETINOBLASTOMA PROTEIN;

EID: 84944353204     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2015.6     Document Type: Article

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