Publications by authors named "Francoise Devillard"

27Publications

9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression.

Neurogenetics 2019 08 17;20(3):145-154. Epub 2019 Jun 17.

Research Lab of Medical Cytogenetics and Molecular Genetics, Istituto Auxologico Italiano, IRCCS, 20145, Milan, Italy.

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http://dx.doi.org/10.1007/s10048-019-00581-6DOI Listing
August 2019

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.

J Med Genet 2019 08 28;56(8):526-535. Epub 2019 Mar 28.

Service de Génétique, Hospices Civils de Lyon, Bron, France.

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http://dx.doi.org/10.1136/jmedgenet-2018-105778DOI Listing
August 2019

[A specialised consultation for children and young adults with trisomy 21].

Soins Pediatr Pueric 2018 May - Jun;39(302):36-39

Laboratoire HP(2) Inserm U1042, UM Sports et pathologies, Hôpital Sud, Centre hospitalier universitaire Grenoble Alpes, 38043 Grenoble, France.

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http://dx.doi.org/10.1016/j.spp.2018.03.008DOI Listing
November 2018

Further delineation of the duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.

Authors:
Marguerite Miguet Laurence Faivre Jeanne Amiel Mathilde Nizon Renaud Touraine Fabienne Prieur Laurent Pasquier Mathilde Lefebvre Julien Thevenon Christèle Dubourg Sophie Julia Catherine Sarret Ganaëlle Remerand Christine Francannet Fanny Laffargue Odile Boespflug-Tanguy Albert David Bertrand Isidor Jacqueline Vigneron Bruno Leheup Laetitia Lambert Christophe Philippe Mylène Béri-Dexheimer Jean-Marie Cuisset Joris Andrieux Ghislaine Plessis Annick Toutain Laurent Guibaud Valérie Cormier-Daire Marlene Rio Jean-Paul Bonnefont Bernard Echenne Hubert Journel Lydie Burglen Sandrine Chantot-Bastaraud Thierry Bienvenu Clarisse Baumann Laurence Perrin Séverine Drunat Pierre-Simon Jouk Klaus Dieterich Françoise Devillard Didier Lacombe Nicole Philip Sabine Sigaudy Anne Moncla Chantal Missirian Catherine Badens Nathalie Perreton Christel Thauvin-Robinet Réseau AChro-Puce Jean-Michel Pedespan Caroline Rooryck Cyril Goizet Catherine Vincent-Delorme Bénédicte Duban-Bedu Nadia Bahi-Buisson Alexandra Afenjar Kim Maincent Delphine Héron Jean-Luc Alessandri Dominique Martin-Coignard Gaëtan Lesca Massimiliano Rossi Martine Raynaud Patrick Callier Anne-Laure Mosca-Boidron Nathalie Marle Charles Coutton Véronique Satre Cédric Le Caignec Valérie Malan Serge Romana Boris Keren Anne-Claude Tabet Valérie Kremer Sophie Scheidecker Adeline Vigouroux Marilyn Lackmy-Port-Lis Damien Sanlaville Marianne Till Maryline Carneiro Brigitte Gilbert-Dussardier Marjolaine Willems Hilde Van Esch Vincent Des Portes Salima El Chehadeh

J Med Genet 2018 Jun 4;55(6):359-371. Epub 2018 Apr 4.

Service de génétique médicale, Institut de Génétique Médicale d'Alsace (IGMA), Centre de Référence Maladies Rares "Anomalies du développement et syndromes malformatifs", Centre de Référence Maladies Rares "Des déficiences intellectuelles de causes rares", Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre, Strasbourg, France.

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http://dx.doi.org/10.1136/jmedgenet-2017-104956DOI Listing
June 2018

Patients with multiple morphological abnormalities of the sperm flagella due to DNAH1 mutations have a good prognosis following intracytoplasmic sperm injection.

Hum Reprod 2016 06 19;31(6):1164-72. Epub 2016 Apr 19.

Université Grenoble Alpes, Grenoble F-38000, France Equipe 'Genetics Epigenetics and Therapies of Infertility', Institut Albert Bonniot (IAB), INSERM U1209, CNRS UMR 5309, Grenoble F-38000, France CHU de Grenoble, UF de Génétique Chromosomique, Grenoble F-38000, France.

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https://academic.oup.com/humrep/article-lookup/doi/10.1093/h
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http://dx.doi.org/10.1093/humrep/dew083DOI Listing
June 2016

Microdeletion del(22)(q12.1) excluding the MN1 gene in a patient with craniofacial anomalies.

Am J Med Genet A 2016 Feb 6;170A(2):498-503. Epub 2015 Nov 6.

Département de Génétique et Procréation, Hôpital Couple-Enfant, CHU de Grenoble, Grenoble, France.

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http://dx.doi.org/10.1002/ajmg.a.37450DOI Listing
February 2016

13q31.1 microdeletion: A prenatal case report with macrocephaly and macroglossia.

Eur J Med Genet 2015 Oct 10;58(10):526-30. Epub 2015 Sep 10.

Département de Génétique et Procréation, Hôpital Couple Enfant, CHU Grenoble, 38043 Grenoble Cedex, France; Université Grenoble-Alpes, 38000 Grenoble, France; Equipe "Genetics Epigenetics and Therapies of Infertility" Institut Albert Bonniot, INSERM U823, La Tronche F-38706, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2015.09.003DOI Listing
October 2015

Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder.

Mol Autism 2015 25;6:19. Epub 2015 Mar 25.

INSERM, UMR 1130, Neuroscience Paris Seine, 9 quai Saint Bernard, 75005 Paris, France ; CNRS, UMR 8246, Neuroscience Paris Seine, 9 quai Saint Bernard, 75005 Paris, France ; Sorbonne Universités, UPMC Univ Paris 6, Institut de Biologie Paris-Seine, 9 quai Saint Bernard, 75005 Paris, France.

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http://www.molecularautism.com/content/6/1/19
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http://dx.doi.org/10.1186/s13229-015-0015-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4384291PMC
April 2015

Phase advance of circadian rhythms in Smith-Magenis syndrome: a case study in an adult man.

Neurosci Lett 2015 Jan 27;585:144-8. Epub 2014 Nov 27.

Service d'Hormonologie, Centre Hospitalier Est, Hospices Civils de Lyon, France; INSERM U846, Institut Cellule Souche et Cerveau, Neurobiologie des Rythmes Circadiens et du Sommeil, 18 avenue du Doyen Lépine 69500 Bron, France.

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http://dx.doi.org/10.1016/j.neulet.2014.11.038DOI Listing
January 2015

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.

PLoS Genet 2014 Sep 4;10(9):e1004580. Epub 2014 Sep 4.

Institut Pasteur, Human Genetics and Cognitive Functions Unit, Paris, France; CNRS UMR 3571 Genes, Synapses and Cognition, Institut Pasteur, Paris, France; University Paris Diderot, Sorbonne Paris Cité, Human Genetics and Cognitive Functions, Paris, France; FondaMental Foundation, Créteil, France.

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http://dx.doi.org/10.1371/journal.pgen.1004580DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4154644PMC
September 2014

Array-CGH in children with mild intellectual disability: a population-based study.

Eur J Pediatr 2015 Jan 3;174(1):75-83. Epub 2014 Jul 3.

Laboratoire de Génétique Chromosomique, Département de Génétique et Procréation, Hôpital Couple Enfant, CHU Grenoble, 38700, Grenoble, France,

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http://dx.doi.org/10.1007/s00431-014-2367-6DOI Listing
January 2015

7p22.3 microdeletion disrupting SNX8 in a patient presenting with intellectual disability but no tetralogy of Fallot.

Am J Med Genet A 2014 Aug 8;164A(8):2133-5. Epub 2014 Apr 8.

Département de Biochimie, Biochimie et Génétique Moléculaire, Toxicologie et Pharmacologie, CHU Grenoble, Grenoble, France; Université Joseph Fourier, Grenoble, France; Grenoble Institut des Neurosciences, Unité INSERM U836, Grenoble, France.

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http://dx.doi.org/10.1002/ajmg.a.36566DOI Listing
August 2014

Maternal complex chromosomal rearrangement leads to TCF12 microdeletion in a patient presenting with coronal craniosynostosis and intellectual disability.

Am J Med Genet A 2014 Jun 19;164A(6):1530-6. Epub 2014 Mar 19.

Laboratoire de Génétique Chromosomique, Département de Génétique et Procréation, Hôpital Couple Enfant, CHU Grenoble, Grenoble, France.

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http://doi.wiley.com/10.1002/ajmg.a.36467
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http://dx.doi.org/10.1002/ajmg.a.36467DOI Listing
June 2014

17p13.1 microduplication in a boy with Silver-Russell syndrome features and intellectual disability.

Am J Med Genet A 2012 Oct 17;158A(10):2564-70. Epub 2012 Aug 17.

Laboratoire de Génétique Chromosomique, Département de Génétique et Procréation, Hôpital Couple Enfant, CHU Grenoble, France.

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http://dx.doi.org/10.1002/ajmg.a.35553DOI Listing
October 2012