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TranscriptomicsAdvantages of a Next Generation Sequencing targeted approach for the molecular diagnosis of Retinoblastoma.
Background: Retinoblastoma (RB) is the most common malignant childhood tumor of the eye and results from inactivation of both alleles of the RB1 gene. Nowadays RB genetic diagnosis requires classical chromosome investigations, Multiplex Ligation-dependent Probe Amplification analysis (MLPA) and Sang...
ORGANISM(S): Homo sapiens 
2015-10-31 | E-MTAB-3492 | biostudies-arrayexpress
GenomicsNext Generation Sequencing targeted approach for the molecular diagnosis of Retinoblastoma.
Retinoblastoma (RB, OMIM:180200) is the most common malignant childhood tumor of the eye with an estimated incidence between 1 in 16,000 and 1 in 18,000 live births [1,2]. RB is the first disease for which a genetic etiology of cancer has been described [3] being caused by mutations in the first tum...
ORGANISM(S): Homo sapiens 
2015-10-31 | E-MTAB-3515 | biostudies-arrayexpress
TranscriptomicsHigh-resolution array CGH profiling identifies Na-K transporting ATPase interacting 2 - NKAIN2- as a predisposing candidate gene in neuroblastoma
We studied an Italian family with three NB patients, two siblings and one of their cousins carrying the R1192P mutation in the ALK gene (that has been found mutated in a fraction of familial NBs). However, because some individuals harboring mutations in this gene do not develop this tumor, additiona...
ORGANISM(S): Homo sapiens 
2013-08-02 | E-MEXP-3948 | biostudies-arrayexpress
TranscriptomicsGenotyping by array of human neuroblastoma cell lines showing MYCN amplification as double minutes or homogeneously staining regions
SNP array profile of cell lines from solid tumors showing MYCN amplification as Double minutes (dmin) and homogeneously staining regions (hsr)
ORGANISM(S): Homo sapiens 
2010-05-25 | E-MEXP-2735 | biostudies-arrayexpress
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