Articles with "multiple ligation" as a keyword



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MYCN amplification levels in primary retinoblastoma tumors analyzed by Multiple Ligation-dependent Probe Amplification

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Published in 2021 at "Ophthalmic Genetics"

DOI: 10.1080/13816810.2021.1923038

Abstract: ABSTRACT Background: Retinoblastoma (Rb) is a childhood tumor of the developing retina where predisposition is caused by RB1 pathogenic variants. MYCN amplification (MYCNA ) has been implicated in around 2% of sporadic unilateral Rb tumors… read more here.

Keywords: pathogenic variants; multiple ligation; mycn amplification; rb1 pathogenic ... See more keywords
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Rare chromosomal aberrations detected in children with multiple congenital anomalies: utility of multiple ligation dependant probe amplification for developing countries

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Published in 2021 at "Clinical Dysmorphology"

DOI: 10.1097/mcd.0000000000000370

Abstract: Chromosomal aberrations are an important cause of multiple malformation syndromes. Multiple ligation-dependent probe amplification (MLPA) a molecular cytogenetic technique has been suggested as a screening tool for the detection of chromosomal aberrations in resource-limited settings.… read more here.

Keywords: probe amplification; children multiple; congenital anomalies; mlpa ... See more keywords