Search Results - "Bayindir, Baran"

Predicting fetoplacental chromosomal mosaicism during non‐invasive prenatal testing by Brison, Nathalie, Neofytou, Maria, Dehaspe, Luc, Bayindir, Baran, Van Den Bogaert, Kris, Dardour, Leila, Peeters, Hilde, Van Esch, Hilde, Van Buggenhout, Griet, Vogels, Annick, Ravel, Thomy, Legius, Eric, Devriendt, Koen, Vermeesch, Joris R.

“…Objective Non‐invasive prenatal detection of aneuploidies can be achieved with high accuracy through sequencing of cell‐free maternal plasma DNA in the…”
Get full text

Systematic evaluation of NIPT aneuploidy detection software tools with clinically validated NIPT samples by Paluoja, Priit, Teder, Hindrek, Ardeshirdavani, Amin, Bayindir, Baran, Vermeesch, Joris, Salumets, Andres, Krjutškov, Kaarel, Palta, Priit

“…Non-invasive prenatal testing (NIPT) is a powerful screening method for fetal aneuploidy detection, relying on laboratory and computational analysis of…”
Get full text

Fetal sex determination in twin pregnancies using non-invasive prenatal testing by Villela, Darine, Che, Huiwen, Van Ghelue, Marijke, Dehaspe, Luc, Brison, Nathalie, Van Den Bogaert, Kris, Devriendt, Koen, Lewi, Liesbeth, Bayindir, Baran, Vermeesch, Joris Robert

“…Non-invasive prenatal testing (NIPT) is accurate for fetal sex determination in singleton pregnancies, but its accuracy is not well established in twin…”
Get full text

Idiopathic Central Precocious Puberty Associated with 11 Mb De Novo Distal Deletion of the Chromosome 9 Short Arm by Losa, Laura, Della Mina, Erika, Cisternino, Mariangela, Madè, Alexandra, Rossetti, Giulia, Bassi, Lorenzo Andrea, Pieri, Giovanni, Bayindir, Baran, Messa, Jole, Zuffardi, Orsetta, Ciccone, Roberto

“…We report a girl with a de novo distal deletion of 9p affected by idiopathic central precocious puberty and intellectual disability. Genome-wide array-CGH…”
Get full text

Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management by Bayindir, Baran, Dehaspe, Luc, Brison, Nathalie, Brady, Paul, Ardui, Simon, Kammoun, Molka, Van der Veken, Lars, Lichtenbelt, Klaske, Van den Bogaert, Kris, Van Houdt, Jeroen, Peeters, Hilde, Van Esch, Hilde, de Ravel, Thomy, Legius, Eric, Devriendt, Koen, Vermeesch, Joris R

“…Noninvasive prenatal testing by massive parallel sequencing of maternal plasma DNA has rapidly been adopted as a mainstream method for detection of fetal…”
Get full text

Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform by Della Mina, Erika, Ciccone, Roberto, Brustia, Francesca, Bayindir, Baran, Limongelli, Ivan, Vetro, Annalisa, Iascone, Maria, Pezzoli, Laura, Bellazzi, Riccardo, Perotti, Gianfranco, De Giorgis, Valentina, Lunghi, Simona, Coppola, Giangennaro, Orcesi, Simona, Merli, Pietro, Savasta, Salvatore, Veggiotti, Pierangelo, Zuffardi, Orsetta

“…We analyzed by next-generation sequencing (NGS) 67 epilepsy genes in 19 patients with different types of either isolated or syndromic epileptic disorders and…”
Get full text

Dravet phenotype in a subject with a der(4)t(4;8)(p16.3;p23.3) without the involvement of the LETM1 gene by Bayindir, Baran, Piazza, Elena, Della Mina, Erika, Limongelli, Ivan, Brustia, Francesca, Ciccone, Roberto, Veggiotti, Pierangelo, Zuffardi, Orsetta, Dehghani, Mohammed Reza

“…Abstract We present a patient affected by Dravet syndrome. Thorough analysis of genes that might be involved in the pathogenesis of such phenotype with both…”
Get full text