Publications by authors named "Alinoe Lavillaureix"

9Publications

Antenatal finding of 16q24.1 duplication including FOXF1, revealing an autosomal dominant familial pathology with congenital short bowel, malrotation and renal abnormalities.

Authors:
Alinoë Lavillaureix Gauthier Foulon Erika Launay Marc-Antoine Belaud-Rotureau Ronan Thibault Cécile Lambe Dominique Aussel Laurent Pasquier Sylvie Odent Alexis Arnaud Edouard Habonimana Alain Dabadie Sylvie Jaillard

Clin Res Hepatol Gastroenterol 2020 Nov 15. Epub 2020 Nov 15.

CHU Rennes, Service de Cytogénétique et Biologie Cellulaire, F-35033 Rennes, France; Univ Rennes, CHU Rennes, INSERM, EHESP, IRSET (Institut de Recherche en Santé, Environnement et Travail) - UMR_S 1085, F-35000 Rennes, France.

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November 2020

ATP7A mutation with occipital horns and distal motor neuropathy: A continuum.

Authors:
Melanie Fradin Alinoe Lavillaureix Sylvie Jaillard Chloe Quelin Paul Sauleau Marie-Christine Minot Dominique Menard Gilles Edan Irene Ceballos Catherine Treguier Maia Proisy Corinne Magdelaine Anne-Sophie Lia Sylvie Odent Laurent Pasquier

Eur J Med Genet 2020 Dec 31;63(12):104087. Epub 2020 Oct 31.

Service de génétique, CLAD Ouest, CHU Rennes, Rennes, France; Service de génétique, CRDI, CHU Rennes, Rennes, France.

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December 2020

Incidental diagnosis of mucopolysaccharidosis type I in an infant with chronic intestinal pseudoobstruction by exome sequencing.

Authors:
Auriane Cospain Christèle Dubourg Swellen Gastineau Samia Pichard Virginie Gandemer Jacinthe Bonneau Marie de Tayrac Caroline Moreau Sylvie Odent Laurent Pasquier Lena Damaj Alinoë Lavillaureix

Mol Genet Metab Rep 2020 Sep 7;24:100621. Epub 2020 Jul 7.

CHU Rennes, Service de Génétique Clinique, Centre de Référence Maladies Rares CLAD-Ouest, ERN ITHACA, Hôpital Sud, Rennes, France.

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September 2020

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

Authors:
Anne H O'Donnell-Luria Lynn S Pais Víctor Faundes Jordan C Wood Abigail Sveden Victor Luria Rami Abou Jamra Andrea Accogli Kimberly Amburgey Britt Marie Anderlid Silvia Azzarello-Burri Alice A Basinger Claudia Bianchini Lynne M Bird Rebecca Buchert Wilfrid Carre Sophia Ceulemans Perrine Charles Helen Cox Lisa Culliton Aurora Currò Florence Demurger James J Dowling Benedicte Duban-Bedu Christèle Dubourg Saga Elise Eiset Luis F Escobar Alessandra Ferrarini Tobias B Haack Mona Hashim Solveig Heide Katherine L Helbig Ingo Helbig Raul Heredia Delphine Héron Bertrand Isidor Amy R Jonasson Pascal Joset Boris Keren Fernando Kok Hester Y Kroes Alinoë Lavillaureix Xin Lu Saskia M Maas Gustavo H B Maegawa Carlo L M Marcelis Paul R Mark Marcelo R Masruha Heather M McLaughlin Kirsty McWalter Esther U Melchinger Saadet Mercimek-Andrews Caroline Nava Manuela Pendziwiat Richard Person Gian Paolo Ramelli Luiza L P Ramos Anita Rauch Caitlin Reavey Alessandra Renieri Angelika Rieß Amarilis Sanchez-Valle Shifteh Sattar Carol Saunders Niklas Schwarz Thomas Smol Myriam Srour Katharina Steindl Steffen Syrbe Jenny C Taylor Aida Telegrafi Isabelle Thiffault Doris A Trauner Helio van der Linden Silvana van Koningsbruggen Laurent Villard Ida Vogel Julie Vogt Yvonne G Weber Ingrid M Wentzensen Elysa Widjaja Jaroslav Zak Samantha Baxter Siddharth Banka Lance H Rodan

Am J Hum Genet 2019 06 9;104(6):1210-1222. Epub 2019 May 9.

Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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June 2019

Correction: Pleiotropic Mechanisms Indicated for Sex Differences in Autism.

Authors:
Ileena Mitra Kathryn Tsang Christine Ladd-Acosta Lisa A Croen Kimberly A Aldinger Robert L Hendren Michela Traglia Alinoë Lavillaureix Noah Zaitlen Michael C Oldham Pat Levitt Stanley Nelson David G Amaral Irva Hertz-Picciotto M Daniele Fallin Lauren A Weiss

PLoS Genet 2017 Jun 7;13(6):e1006831. Epub 2017 Jun 7.

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June 2017

Reverse Pathway Genetic Approach Identifies Epistasis in Autism Spectrum Disorders.

Authors:
Ileena Mitra Alinoë Lavillaureix Erika Yeh Michela Traglia Kathryn Tsang Carrie E Bearden Katherine A Rauen Lauren A Weiss

PLoS Genet 2017 Jan 11;13(1):e1006516. Epub 2017 Jan 11.

Department of Psychiatry, University of California San Francisco, San Francisco, California, United States of America.

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January 2017

Pleiotropic Mechanisms Indicated for Sex Differences in Autism.

Authors:
Ileena Mitra Kathryn Tsang Christine Ladd-Acosta Lisa A Croen Kimberly A Aldinger Robert L Hendren Michela Traglia Alinoë Lavillaureix Noah Zaitlen Michael C Oldham Pat Levitt Stanley Nelson David G Amaral Irva Hertz-Picciotto M Daniele Fallin Lauren A Weiss

PLoS Genet 2016 11 15;12(11):e1006425. Epub 2016 Nov 15.

Department of Psychiatry and Institute for Human Genetics, University of California, San Francisco, California, United States of America.

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November 2016

Xp21 deletion in female patients with intellectual disability: Two new cases and a review of the literature.

Authors:
Solveig Heide Alexandra Afenjar Patrick Edery Damien Sanlaville Boris Keren Alexandre Rouen Alinoë Lavillaureix Capucine Hyon Diane Doummar Jean-Pierre Siffroi Sandra Chantot-Bastaraud

Eur J Med Genet 2015 Jun-Jul;58(6-7):341-5. Epub 2015 Apr 23.

APHP, Hôpital Armand-Trousseau, Service de Génétique et d'Embryologie médicales, Paris, 75012, France.

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March 2016

Nuclear volume differences between balanced and unbalanced spermatozoa in chromosomal translocation carriers.

Authors:
Alexandre Rouen Alinoë Lavillaureix Capucine Hyon Solveig Heide Sylvain Clède Richard Balet Esther Kott Nino Guy Cassuto Jean-Pierre Siffroi

Reprod Biomed Online 2015 Mar 4;30(3):290-5. Epub 2014 Dec 4.

Service de Génétique et Embryologie Médicales, Hôpital Armand-Trousseau, AP-HP, Unité INSERM U933, 26 Avenue du Dr Arnold Netter, Paris 75012, France.

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March 2015