Further refining the critical region of 10q26 microdeletion syndrome: A possible involvement of INSYN2 and NPS in the cognitive phenotype

Autor: Cherik, Florian, Lepage, Mathis, Remerand, Ganaelle, Francannet, Christine, Delabaere, Amélie, Salaun, Gaëlle, Pebrel-Richard, Céline, Gouas, Laetitia, Vago, Philippe, Tchirkov, Andrei, Goumy, Carole

Publikováno v: In European Journal of Medical Genetics September 2021 64(9)

Nouvelles pathologies liées à YY1 et signature épigénétique

Autor: Cherik, Florian

Publikováno v: Médecine humaine et pathologie. 2020

Introduction : Le syndrome de Gabriele-de-vries (OMIM#617557) est un syndromen responsable d'une déficience intellectuelle associée à des particularités morphologiques et des anomalies neurologiques. Il a récemment été décrit chez 12 personne

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::78242104926adbf6aa8d5d4c29cc1fbb
https://dumas.ccsd.cnrs.fr/dumas-03463367

Syndrome microdélétionnel 10q26 : nouvelle région minimale critique et possible implication des gènes INSYN2 et NPSdans le phénotype cognitif

Autor: Goumy, Carole, Cherik, Florian, Lepage, Mathis, Remerand, Ganaelle, Francannet, Christine, Delabaere, Amélie, Salaun, Gaelle, Pebrel-Richard, Céline, Gouas, Laetitia, Eymard-Pierre, Eleonore, Vago, Philippe, Tchirkov, Andrei

Publikováno v: Morphologie; September 2021, Vol. 105 Issue: 350, Number 350 Supplement 1 pS19-S19, 1p

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.

Autor: Levy MA; Verspeeten Clinical Genome Centre; London Health Sciences Centre, London, ON N6A 5W9, Canada., McConkey H; Verspeeten Clinical Genome Centre; London Health Sciences Centre, London, ON N6A 5W9, Canada., Kerkhof J; Verspeeten Clinical Genome Centre; London Health Sciences Centre, London, ON N6A 5W9, Canada., Barat-Houari M; Autoinflammatory and Rare Diseases Unit, Medical Genetic Department for Rare Diseases and Personalized Medicine, CHU Montpellier, Montpellier, France., Bargiacchi S; Medical Genetics Unit, 'A. Meyer' Children's Hospital of Florence, Florence, Italy., Biamino E; Department of Pediatrics, University of Turin, Turin, Italy., Bralo MP; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, CIBERER, ISCIII, Madrid, Spain., Cappuccio G; Department of Translational Medicine, Federico II University of Naples, Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy., Ciolfi A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Clarke A; Cardiff University School of Medicine, Cardiff, UK., DuPont BR; Greenwood Genetic Center, Greenwood, SC 29646, USA., Elting MW; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands., Faivre L; INSERM-Université de Bourgogne UMR1231 GAD « Génétique Des Anomalies du Développement », FHU-TRANSLAD, UFR Des Sciences de Santé, Dijon, France.; Centre de Référence Maladies Rares «Anomalies du Développement et Syndromes Malformatifs », Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Fee T; Greenwood Genetic Center, Greenwood, SC 29646, USA., Fletcher RS; Greenwood Genetic Center, Greenwood, SC 29646, USA., Cherik F; Genetic medical center, CHU Clermont Ferrand, France.; Montpellier University, Reference Center for Rare Disease, Medical Genetic Department for Rare Disease and Personalize Medicine, Inserm Unit 1183, CHU Montpellier, Montpellier, France., Foroutan A; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada., Friez MJ; Greenwood Genetic Center, Greenwood, SC 29646, USA., Gervasini C; Division of Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, Milan, Italy., Haghshenas S; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada., Hilton BA; Greenwood Genetic Center, Greenwood, SC 29646, USA., Jenkins Z; Dunedin School of Medicine, University of Otago, Dunedin, New Zealand., Kaur S; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute and Department of Paediatrics, University of Melbourne, Melbourne, Australia., Lewis S; BC Children's and Women's Hospital and Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, Canada., Louie RJ; Greenwood Genetic Center, Greenwood, SC 29646, USA., Maitz S; Clinical Pediatric Genetics Unit, Pediatrics Clinics, MBBM Foundation, Hospital San Gerardo, Monza, Italy., Milani D; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Morgan AT; Murdoch Children's Research Institute and Department of Paediatrics, University of Melbourne, Melbourne, Australia., Oegema R; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Østergaard E; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark., Pallares NR; Autoinflammatory and Rare Diseases Unit, Medical Genetic Department for Rare Diseases and Personalized Medicine, CHU Montpellier, Montpellier, France., Piccione M; Medical Genetics Unit Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties, University of Palermo, Palermo, Italy., Pizzi S; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Plomp AS; Amsterdam UMC, University of Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands., Poulton C; Undiagnosed Diseases Program, Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Australia., Reilly J; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada., Relator R; Verspeeten Clinical Genome Centre; London Health Sciences Centre, London, ON N6A 5W9, Canada., Rius R; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia., Robertson S; Dunedin School of Medicine, University of Otago, Dunedin, New Zealand., Rooney K; Verspeeten Clinical Genome Centre; London Health Sciences Centre, London, ON N6A 5W9, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada., Rousseau J; CHU Sainte-Justine Research Center, University of Montreal, Montreal, QC H3T 1C5, Canada., Santen GWE; Department of Clinical Genetics, LUMC, Leiden, the Netherlands., Santos-Simarro F; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, CIBERER, ISCIII, Madrid, Spain., Schijns J; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., Squeo GM; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Via S. Pansini 5, 80131 Naples, Italy., St John M; Murdoch Children's Research Institute and Department of Paediatrics, University of Melbourne, Melbourne, Australia., Thauvin-Robinet C; INSERM-Université de Bourgogne UMR1231 GAD « Génétique Des Anomalies du Développement », FHU-TRANSLAD, UFR Des Sciences de Santé, Dijon, France.; Centre de Référence Maladies Rares «Anomalies du Développement et Syndromes Malformatifs », Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Unité Fonctionnelle d'Innovation Diagnostique des Maladies Rares, FHU-TRANSLAD, France Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon Bourgogne, CHU Dijon Bourgogne, Dijon, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Hôpital D'Enfants, CHU Dijon Bourgogne, 21000 Dijon, France., Traficante G; Medical Genetics Unit, 'A. Meyer' Children's Hospital of Florence, Florence, Italy., van der Sluijs PJ; Department of Clinical Genetics, LUMC, Leiden, the Netherlands., Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA, USA.; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, VA, USA., Vos N; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam Reproduction and Development Research Institute, Meibergdreef 9, Amsterdam, the Netherlands., Walden KK; Greenwood Genetic Center, Greenwood, SC 29646, USA., Azmanov D; Department of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Perth, Australia., Balci T; Department of Pediatrics, Division of Medical Genetics, Western University, London, ON N6A 3K7, Canada.; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre and Children's Health Research Institute, London, ON N6A5W9, Canada., Banka S; Division of Evolution, Infection & Genomics, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Gecz J; School of Medicine, Robinson Research Institute, University of Adelaide, Adelaide, SA 5005, Australia.; South Australian Health and Medical Research Institute, Adelaide, SA 5005, Australia., Henneman P; Amsterdam UMC, University of Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands., Lee JA; Greenwood Genetic Center, Greenwood, SC 29646, USA., Mannens MMAM; Amsterdam UMC, University of Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands., Roscioli T; Neuroscience Research Australia (NeuRA), Sydney, Australia.; Prince of Wales Clinical School, Faculty of Medicine, University of New South Wales, Sydney, Australia.; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, Australia.; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, Australia., Siu V; Department of Pediatrics, Division of Medical Genetics, Western University, London, ON N6A 3K7, Canada.; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre and Children's Health Research Institute, London, ON N6A5W9, Canada., Amor DJ; Murdoch Children's Research Institute and Department of Paediatrics, University of Melbourne, Melbourne, Australia., Baynam G; Undiagnosed Diseases Program, Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Australia.; Undiagnosed Diseases Program, Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Australia.; Division of Paediatrics and Telethon Kids Institute, Faculty of Health and Medical Sciences, Perth, Australia., Bend EG; PreventionGenetics, Marshfield, WI, USA., Boycott K; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada., Brunetti-Pierri N; Department of Translational Medicine, Federico II University of Naples, Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy., Campeau PM; CHU Sainte-Justine Research Center, University of Montreal, Montreal, QC H3T 1C5, Canada., Christodoulou J; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute and Department of Paediatrics, University of Melbourne, Melbourne, Australia., Dyment D; Children's Hospital of Eastern Ontario, Ottawa, Canada., Esber N; KAT6A Foundation., Fahrner JA; Departments of Genetic Medicine and Pediatrics, Johns Hopkins University, Baltimore, MD 21205, USA., Fleming MD; Department of Pathology, Boston Children's Hospital, Boston, MA, USA., Genevieve D; Montpellier University, Reference Center for Rare Disease, Medical Genetic Department for Rare Disease and Personalize Medicine, Inserm Unit 1183, CHU Montpellier, Montpellier, France., Kerrnohan KD; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.; Newborn Screening Ontario, Children's Hospital of Eastern Ontario, Ottawa, Canada., McNeill A; Department of Neuroscience, University of Sheffield, Sheffield Children's Hospital NHS Foundation Trust, Sheffield, UK., Menke LA; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., Merla G; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Via S. Pansini 5, 80131 Naples, Italy.; Laboratory of Regulatory and Functional Genomics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (Foggia), Italy., Prontera P; Medical Genetics Unit, University of Perugia Hospital SM della Misericordia, Perugia, Italy., Rockman-Greenberg C; Department of Pediatrics and Child Health, Rady Faculty of Health Sciences, University of Manitoba and Program in Genetics and Metabolism, Shared Health MB, Winnipeg, MB, Canada., Schwartz C; Greenwood Genetic Center, Greenwood, SC 29646, USA., Skinner SA; Greenwood Genetic Center, Greenwood, SC 29646, USA., Stevenson RE; Greenwood Genetic Center, Greenwood, SC 29646, USA., Vitobello A; INSERM-Université de Bourgogne UMR1231 GAD « Génétique Des Anomalies du Développement », FHU-TRANSLAD, UFR Des Sciences de Santé, Dijon, France.; Unité Fonctionnelle d'Innovation Diagnostique des Maladies Rares, FHU-TRANSLAD, France Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon Bourgogne, CHU Dijon Bourgogne, Dijon, France., Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Alders M; Amsterdam UMC, University of Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands., Tedder ML; Greenwood Genetic Center, Greenwood, SC 29646, USA., Sadikovic B; Verspeeten Clinical Genome Centre; London Health Sciences Centre, London, ON N6A 5W9, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada.

Publikováno v: HGG advances [HGG Adv] 2021 Dec 03; Vol. 3 (1), pp. 100075. Date of Electronic Publication: 2021 Dec 03 (Print Publication: 2022).