Publications by authors named "C Turleau"

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Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series.
Marion Lesieur-Sebellin, Marianne Till, Philippe Khau Van Kien, Bérénice Herve, Nicolas Bourgon, Catherine Turleau

Prenat Diagn· January 2022

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SOX3 duplication: A genetic cause to investigate in fetuses with neural tube defects.
Marguerite Hureaux, Selima Ben Miled, Nicolas Chatron, Aurelie Coussement, Bettina Bessières, Catherine Turleau

Prenat Diagn· October 2019

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Large Duplications Can Be Benign Copy Number Variants: A Case of a 3.6-Mb Xq21.33 Duplication.
Marie-Laure Maurin, Chloé Arfeuille, Pascale Sonigo, Sophie Rondeau, Michel Vekemans, Catherine Turleau

Cytogenet Genome Res· September 2017

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A French Approach to Test Fetuses with Ultrasound Abnormalities Using a Customized Microarray as First-Tier Genetic Test.
Valérie Malan, Jean-Michel Lapierre, Matthieu Egloff, Didier Goidin, Marie-Paule Beaujard, Catherine Turleau

Cytogenet Genome Res· August 2016

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Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathy.
C Leroy, M-L Jacquemont, B Doray, D Lamblin, V Cormier-Daire, C Turleau

Clin Genet· January 2016

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