Publications by authors named "Gilles Morin"

41Publications

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.

Genet Med 2020 03 14;22(3):538-546. Epub 2019 Nov 14.

Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA.

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March 2020

Functional assessment of creatine transporter in control and X-linked SLC6A8-deficient fibroblasts.

Mol Genet Metab 2018 04 16;123(4):463-471. Epub 2018 Feb 16.

Department of Biochemistry and Molecular Biology, Laboratory of Hormonology, Metabolism-Nutrition & Oncology (HMNO), Center of Biology and Pathology (CBP) Pierre-Marie Degand, CHRU, Lille, France; Inserm, Lille, France; Université de Lyon, INSERM U1060 CarMeN, Lyon, France.; Univ. Lille, RADEME - Maladies RAres du Développement et du Métabolisme : du phénotype au génotype et à la Fonction, Lille, EA 7364, France. Electronic address:

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April 2018

New intragenic rearrangements in non-Finnish mulibrey nanism.

Am J Med Genet A 2017 Oct 17;173(10):2782-2788. Epub 2017 Aug 17.

Médecine et Biologie de la Reproduction et Laboratoire de Cytogénétique, Centre Hospitalier Universitaire d'Amiens, Amiens, France.

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October 2017

Growth hormone deficiency and pituitary malformation in a recurrent Cat-Eye syndrome: a family report.

Ann Endocrinol (Paris) 2015 Oct 27;76(5):629-34. Epub 2015 Oct 27.

EA 4666, département de génétique, université de Picardie-Jules-Verne, CHU d'Amiens, 80054 Amiens, France. Electronic address:

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October 2015

DNA methylation of channel-related genes in cancers.

Biochim Biophys Acta 2015 Oct 20;1848(10 Pt B):2621-8. Epub 2015 Feb 20.

UFR Sciences, EA 4667, Laboratory of Cell and Molecular Physiology, University of Picardie Jules Verne, SFR CAP-SANTE (FED 4231), Amiens, France; Department of Biology, Faculty of Sciences, Ibn Zohr University, Agadir Morocco.

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October 2015

Severe psychomotor delay in a severe presentation of cat-eye syndrome.

Case Rep Genet 2015 14;2015:943905. Epub 2015 Jan 14.

Unité de Génétique Médicale et Oncogénétique, Centre Hospitalier Universitaire Amiens-Picardie, 80054 Amiens Cedex, France.

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February 2015

Stormorken syndrome or York platelet syndrome: A clinician's dilemma.

Mol Genet Metab Rep 2015 Mar 29;2:80. Epub 2015 Jan 29.

EA 4666 and Department of Molecular and Clinical Genetics, CHU d'Amiens, Université de Picardie Jules Verne, 80054 Amiens, France.

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March 2015

Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: six new patients.

Am J Med Genet A 2015 Mar 8;167A(3):504-11. Epub 2015 Jan 8.

Unité de Génétique Médicale et Oncogénétique, Centre Hospitalier Universitaire Amiens Picardie, Amiens, France; Laboratoire de Cytogénétique et Biologie de la Reproduction, Centre Hospitalier Universitaire Amiens Picardie, Amiens, France.

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March 2015

Evidence of constitutional MLH1 epimutation associated to transgenerational inheritance of cancer susceptibility.

Hum Mutat 2012 Jan 31;33(1):180-8. Epub 2011 Oct 31.

Oncologie et Génétique Moléculaires, Service de Biochimie et Biologie Moléculaire HMNO, CHRU de Lille, France.

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January 2012

A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2.

Eur J Hum Genet 2006 Dec 6;14(12):1248-54. Epub 2006 Sep 6.

Institut für Medizinische Genetik, Charité, Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany.

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December 2006