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.

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

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

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.

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

Reverse Pathway Genetic Approach Identifies Epistasis in Autism Spectrum Disorders.

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.

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

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

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