Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to fur...
Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation
About this item
Full title
Author / Creator
Heide, Solveig , Spentchian, Myrtille , Valence, Stéphanie , Buratti, Julien , Mach, Corinne , Lejeune, Elodie , Olin, Valérie , Massimello, Marta , Lehalle, Daphné , Mouthon, Linda , Whalen, Sandra , Faudet, Anne , Mignot, Cyril , Garel, Catherine , Blondiaux, Eleonore , Lefebvre, Mathilde , Quenum-Miraillet, Geneviève , Chantot-Bastaraud, Sandra , Milh, Mathieu , Bretelle, Florence , Portes, Vincent des , Guibaud, Laurent , Putoux, Audrey , Tsatsaris, Vassili , Spodenkiewic, Marta , Layet, Valérie , Dard, Rodolphe , Mandelbrot, Laurent , Guet, Agnès , Moutton, Sébastien , Gorce, Magali , Nizon, Mathilde , Vincent, Marie , Beneteau, Claire , Rocchisanni, Marie-Amélie , Benachi, Alexandra , Saada, Julien , Attié-Bitach, Tania , Guilbaud, Lucie , Maurice, Paul , Friszer, Stéphanie , Jouannic, Jean-Marie , de Villemeur, Thierry Billette , Moutard, Marie-Laure , Keren, Boris and Héron, Delphine
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
Purpose
Abnormality of the corpus callosum (AbnCC) is etiologically a heterogeneous condition and the prognosis in prenatally diagnosed cases is difficult to predict. The purpose of our research was to establish the diagnostic yield using chromosomal microarray (CMA) and exome sequencing (ES) in cases with prenatally diagnosed isolated (iAbnCC)...
Alternative Titles
Full title
Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation
Authors, Artists and Contributors
Author / Creator
Spentchian, Myrtille
Valence, Stéphanie
Buratti, Julien
Mach, Corinne
Lejeune, Elodie
Olin, Valérie
Massimello, Marta
Lehalle, Daphné
Mouthon, Linda
Whalen, Sandra
Faudet, Anne
Mignot, Cyril
Garel, Catherine
Blondiaux, Eleonore
Lefebvre, Mathilde
Quenum-Miraillet, Geneviève
Chantot-Bastaraud, Sandra
Milh, Mathieu
Bretelle, Florence
Portes, Vincent des
Guibaud, Laurent
Putoux, Audrey
Tsatsaris, Vassili
Spodenkiewic, Marta
Layet, Valérie
Dard, Rodolphe
Mandelbrot, Laurent
Guet, Agnès
Moutton, Sébastien
Gorce, Magali
Nizon, Mathilde
Vincent, Marie
Beneteau, Claire
Rocchisanni, Marie-Amélie
Benachi, Alexandra
Saada, Julien
Attié-Bitach, Tania
Guilbaud, Lucie
Maurice, Paul
Friszer, Stéphanie
Jouannic, Jean-Marie
de Villemeur, Thierry Billette
Moutard, Marie-Laure
Keren, Boris
Héron, Delphine
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_hal_primary_oai_HAL_inserm_03842586v1
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_inserm_03842586v1
Other Identifiers
ISSN
1098-3600
E-ISSN
1530-0366
DOI
10.1038/s41436-020-0872-8
