Gilles Morin

Gilles Morin

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Gilles Morin

Gilles Morin

Publications by authors named "Gilles Morin"

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39Publications

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Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation.

Hum Mutat 2020 Jan 15;41(1):17-37. Epub 2019 Sep 15.

Department of translational medicine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Illkirch, France.

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http://dx.doi.org/10.1002/humu.23899DOI Listing
January 2020

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

Genet Med 2019 Nov 14. Epub 2019 Nov 14.

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

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http://dx.doi.org/10.1038/s41436-019-0693-9DOI Listing
November 2019

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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http://dx.doi.org/10.1016/j.ymgme.2018.02.010DOI Listing
April 2018

Prenatal diagnosis of femoral facial syndrome: Three case reports and literature review.

Am J Med Genet A 2017 Nov 26;173(11):2923-2946. Epub 2017 Sep 26.

Department of Genetics, University Hospital of Amiens, CHU Amiens Sud, Amiens, France.

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http://dx.doi.org/10.1002/ajmg.a.38420DOI Listing
November 2017

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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http://dx.doi.org/10.1002/ajmg.a.38381DOI Listing
October 2017

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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http://dx.doi.org/10.1016/j.bbamem.2015.02.015DOI Listing
October 2015

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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http://dx.doi.org/10.1016/j.ando.2015.02.002DOI Listing
October 2015

Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1.

Hum Mutat 2015 Aug 11;36(8):743-52. Epub 2015 Jun 11.

Assistance Publique-Hôpitaux de Paris, Service de Génétique, Hôpital Européen Georges Pompidou, Paris, France.

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http://dx.doi.org/10.1002/humu.22804DOI Listing
August 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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http://dx.doi.org/10.1002/ajmg.a.36882DOI Listing
March 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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http://dx.doi.org/10.1016/j.ymgmr.2015.01.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5471154PMC
March 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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http://dx.doi.org/10.1155/2015/943905DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4310452PMC
February 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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http://dx.doi.org/10.1002/humu.21617DOI Listing
January 2012

Additional familial case of subtotal leukonychia and sebaceous cysts (Bauer syndrome): belong the nervous tumours to the phenotype?

Eur J Med Genet 2008 Sep-Oct;51(5):436-43. Epub 2008 May 28.

Clinical Genetic Unit, University Hospital, Amiens, France.

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http://dx.doi.org/10.1016/j.ejmg.2008.05.004DOI Listing
November 2008

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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http://www.nature.com/articles/5201708
Publisher Site
http://dx.doi.org/10.1038/sj.ejhg.5201708DOI Listing
December 2006

Nicolaides-Baraitser syndrome: confirmatory report of a syndrome with sparse hair, mental retardation, and short stature and metacarpals.

Clin Dysmorphol 2003 Oct;12(4):237-40

Clinical Genetic Unit, Department of Paediatrics, University Hospital, Amiens, France.

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http://dx.doi.org/10.1097/00019605-200310000-00005DOI Listing
October 2003

[Intraperitoneal bladder rupture during transurethral resection of the prostate].

Prog Urol 2003 Apr;13(2):303-5

Service d'Urologie, CHU Pontchaillou, 35033 Rennes, France.

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April 2003