Methods: Screening of 35 patients from 33 pedigrees on an Affymetrix 6.0 microarray led to the identification of one individual bearing a CNV that disrupted FLNA. FLNA-disrupting CNVs were also isolated in 2 other individuals by multiplex ligation probe amplification. These 3 cases were further characterized by high-resolution oligo array comparative genomic hybridization (CGH), and the precise junctional breakpoints of the rearrangements were identified by PCR amplification and sequencing.
FLNA genomic rearrangements cause periventricular nodular heterotopia / Clapham KR; Yu TW; Ganesh VS; Barry B; Chan Y; Mei D; Parrini E; Funalot B; Dupuis L; Nezarati MM; du Souich C; van Karnebeek C; Guerrini R; Walsh CA.. - In: NEUROLOGY. - ISSN 0028-3878. - STAMPA. - 78(4):(2012), pp. 269-278. [10.1212/WNL.0b013e31824365e4]
FLNA genomic rearrangements cause periventricular nodular heterotopia.
GUERRINI, RENZO;
2012
Abstract
Methods: Screening of 35 patients from 33 pedigrees on an Affymetrix 6.0 microarray led to the identification of one individual bearing a CNV that disrupted FLNA. FLNA-disrupting CNVs were also isolated in 2 other individuals by multiplex ligation probe amplification. These 3 cases were further characterized by high-resolution oligo array comparative genomic hybridization (CGH), and the precise junctional breakpoints of the rearrangements were identified by PCR amplification and sequencing.I documenti in FLORE sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.