Publications by authors named "Julien Van-Gils"

21Publications

Early-onset epileptic encephalopathy related to germline PIGA mutations: A series of 5 cases.

Eur J Paediatr Neurol 2020 Sep 28;28:214-220. Epub 2020 Jun 28.

Unité de neurologie de l'enfant et de l'adolescent. Centre Hospitalo-Universitaire de Bordeaux, Hôpital Pellegrin Enfants, Place Amélie-Raba-Léon, 33 076, Bordeaux cedex, France.

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http://dx.doi.org/10.1016/j.ejpn.2020.06.002DOI Listing
September 2020

Confirmation and Expansion of the Phenotype Associated with the Recurrent p.Val837Met Variant in TRPM3.

Eur J Med Genet 2020 Aug 18;63(8):103942. Epub 2020 May 18.

Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France; Université de Bordeaux, INSERM U1211, Laboratoire Maladies Rares: Génétique et Métabolisme, Bordeaux, France.

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http://dx.doi.org/10.1016/j.ejmg.2020.103942DOI Listing
August 2020

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.

J Med Genet 2020 Jul 10;57(7):466-474. Epub 2020 Apr 10.

INSERM, U1231, Génétique des Anomalies du Développement, Université de Bourgogne Franche-Comté, UMR Lipides, Nutrition, Dijon, France

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http://dx.doi.org/10.1136/jmedgenet-2019-106425DOI Listing
July 2020

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.

Am J Hum Genet 2020 03 27;106(3):356-370. Epub 2020 Feb 27.

Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A3K7, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.01.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7058829PMC
March 2020

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature.

Eur J Hum Genet 2020 Jun 31;28(6):770-782. Epub 2020 Jan 31.

Centre de Génétique et Centre de Référence Maladies Rares (Anomalies du Développement de l'Interrégion Est), Hôpital d'Enfants, CHU Dijon Bourgogne, Dijon, France.

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http://dx.doi.org/10.1038/s41431-020-0571-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7253452PMC
June 2020

Confirmation of Atypical Presentation With Nonprogressive Leukodystrophy in eIF2B-Related Disorders.

Pediatr Neurol 2019 11 1;100:97-99. Epub 2019 Mar 1.

CHU Bordeaux, Service de Génétique Médicale, Bordeaux, France; Laboratoire MRGM, INSERM U1211, Univ. Bordeaux, Bordeaux, France; Centre de référence Neurogénétique, Service de Génétique Médicale, CHU Bordeaux, Bordeaux, France.

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http://dx.doi.org/10.1016/j.pediatrneurol.2019.02.005DOI Listing
November 2019

Coexistence of schwannomatosis and glioblastoma in two families.

Eur J Med Genet 2019 Aug 22;62(8):103680. Epub 2019 May 22.

CHU Bordeaux, Service de Génétique Médicale, Bordeaux, France; Laboratoire MRGM, INSERM U1211, Univ. Bordeaux, Bordeaux, France.

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http://dx.doi.org/10.1016/j.ejmg.2019.103680DOI Listing
August 2019

Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.

Am J Hum Genet 2019 05 25;104(5):815-834. Epub 2019 Apr 25.

CHU-Sainte Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.03.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6507050PMC
May 2019

Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant.

Eur J Med Genet 2019 Jun 22;62(6):103530. Epub 2018 Aug 22.

Service de Génétique Médicale, CHU de Bordeaux and Laboratoire MRGM, INSERM U1211, Univ. Bordeaux, Bordeaux, France; Centre de Référence Neurogénétique, Service de Génétique Médicale, CHU de Bordeaux, France.

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http://dx.doi.org/10.1016/j.ejmg.2018.08.011DOI Listing
June 2019

Atypical hematologic and renal manifestations in neurofibromatosis type I: coincidence or pathophysiological link?

Eur J Med Genet 2014 Nov-Dec;57(11-12):639-42. Epub 2014 Sep 16.

CHU Bordeaux, Hôpital Pellegrin, Service de Génétique Médicale, Centre de Référence des Anomalies du Développement Embryonnaire, 33076 Bordeaux Cedex, France; Université Bordeaux, Laboratoire Maladies Rares, Génétique et Métabolisme (MRGM), EA4576, 33076 Bordeaux Cedex, France.

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http://dx.doi.org/10.1016/j.ejmg.2014.09.001DOI Listing
July 2015