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16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations.
Allach El Khattabi, Laïla; Heide, Solveig; Caberg, Jean-Hubert; Andrieux, Joris; Doco Fenzy, Martine; Vincent-Delorme, Caroline; Callier, Patrick; Chantot-Bastaraud, Sandra; Afenjar, Alexandra; Boute-Benejean, Odile; Cordier, Marie Pierre; Faivre, Laurence; Francannet, Christine; Gerard, Marion; Goldenberg, Alice; Masurel-Paulet, Alice; Mosca-Boidron, Anne-Laure; Marle, Nathalie; Moncla, Anne; Le Meur, Nathalie; Mathieu-Dramard, Michèle; Plessis, Ghislaine; Lesca, Gaetan; Rossi, Massimiliano; Edery, Patrick; Delahaye-Duriez, Andrée; De Pontual, Loïc; Tabet, Anne Claude; Lebbar, Aziza; Suiro, Lesley; Ioos, Christine; Natiq, Abdelhafid; Chafai Elalaoui, Siham; Missirian, Chantal; Receveur, Aline; François-Fiquet, Caroline; Garnier, Pascal; Yardin, Catherine; Laroche, Cécile; Vago, Philippe; Sanlaville, Damien; Dupont, Jean Michel; Benzacken, Brigitte; Pipiras, Eva.
Affiliation
  • Allach El Khattabi L; Cytogenetics department, Cochin Hospital, Assistance Publique des Hôpitaux de Paris; Sorbonne Paris Cité, Paris Descartes University, Medical school, Paris, France.
  • Heide S; Department of Development, Reproduction and Cancer, Cochin Research Institute, INSERM U1016, CNRS UMR8104, Paris, France.
  • Caberg JH; Nuclear Lymphocyte Biology, NIAMS, National Institutes of Health, Bethesda, Maryland, United States.
  • Andrieux J; Cytogenetics department, Cochin Hospital, Assistance Publique des Hôpitaux de Paris; Sorbonne Paris Cité, Paris Descartes University, Medical school, Paris, France.
  • Doco Fenzy M; Genetics department, CHU de Liège - UniLab Lg, Liège, Belgium.
  • Vincent-Delorme C; Genetics department, Jeanne de Flandre Hospital, CHRU de Lille, Lille, France.
  • Callier P; Genetics department, CHU Reims, Medical school IFR53, EA3801, Reims, France.
  • Chantot-Bastaraud S; Genetics department, Guy Fontaine Medical center, CLAD Nord de France, Jeanne de Flandre Hospital, CHRU Lille, CH Arras, Arras, France.
  • Afenjar A; Genetics department, CHU de Dijon, Dijon, France.
  • Boute-Benejean O; Genetics and Embryology department, Armand-Trousseau Hospital, Assistance Publique des Hôpitaux de Paris, Paris, France.
  • Cordier MP; Neuropediatrics department, Armand-Trousseau Hospital, Assistance Publique des Hôpitaux de Paris; Reference Center for cerebellar malformations, Paris, France.
  • Faivre L; Genetics department, Guy Fontaine Medical Center, CLAD Nord de France, Jeanne de Flandre Hospital, CHRU Lille, Lille, France.
  • Francannet C; Genetics department, GH Est, Hospices Civils de Lyon, Lyon, France.
  • Gerard M; Genetics department, CHU de Dijon, Dijon, France.
  • Goldenberg A; Medical Genetics department, Hôtel Dieu Hospital, Clermont-Ferrand, France.
  • Masurel-Paulet A; Genetics department, CHU Côte de Nacre, Caen, France.
  • Mosca-Boidron AL; Medical Genetics department, CHU Ch. Nicolle, Rouen, France.
  • Marle N; Genetics department, CHU de Dijon, Dijon, France.
  • Moncla A; Genetics department, CHU de Dijon, Dijon, France.
  • Le Meur N; Genetics department, CHU de Dijon, Dijon, France.
  • Mathieu-Dramard M; Medical Genetics department, CHU Timone enfants, Assistance Publique des Hôpitaux de Marseille, Marseille, France.
  • Plessis G; Department of Genetics, Reproductive biology and Histology, CHU de Rouen, Rouen, France.
  • Lesca G; Clinical Genetics department, CHU d'Amiens, Amiens, France.
  • Rossi M; Genetics department, CHU Côte de Nacre, Caen, France.
  • Edery P; Genetics department, GH Est, Hospices Civils de Lyon, Lyon, France.
  • Delahaye-Duriez A; GENDEV Team, CRNL, CNRS UMR 5292, INSERM U1028; Claude Bernard Lyon I University, Lyon, France.
  • De Pontual L; Genetics department, GH Est, Hospices Civils de Lyon, Lyon, France.
  • Tabet AC; GENDEV Team, CRNL, CNRS UMR 5292, INSERM U1028; Claude Bernard Lyon I University, Lyon, France.
  • Lebbar A; Genetics department, GH Est, Hospices Civils de Lyon, Lyon, France.
  • Suiro L; GENDEV Team, CRNL, CNRS UMR 5292, INSERM U1028; Claude Bernard Lyon I University, Lyon, France.
  • Ioos C; Department of Histology Embryology and Cytogenetics, Jean Verdier Hospital; Paris 13 University, Sorbonne Paris Cité, UFR SMBH Bobigny; PROTECT, INSERM, Paris Diderot University, Bondy, France.
  • Natiq A; Division of Brain Sciences, Faculty of Medicine, Imperial College, London, UK.
  • Chafai Elalaoui S; Pediatrics department, Jean Verdier Hospital, Assistance Publique des Hôpitaux de Paris, Paris 13 University, Bondy, France.
  • Missirian C; Genetics department, CHU Robert Debré, Assistance Publique des Hôpitaux de Paris, Paris, France.
  • Receveur A; Cytogenetics department, Cochin Hospital, Assistance Publique des Hôpitaux de Paris; Sorbonne Paris Cité, Paris Descartes University, Medical school, Paris, France.
  • François-Fiquet C; Neuropediatrics department, Hôpital Raymond Poincaré, Assistance Publique des Hôpitaux de Paris, Garches, France.
  • Garnier P; Neuropediatrics department, Hôpital Raymond Poincaré, Assistance Publique des Hôpitaux de Paris, Garches, France.
  • Yardin C; Medical Genetics department, Institut National d'Hygiène, Rabat, Morocco.
  • Laroche C; Medical Genetics department, Institut National d'Hygiène, Rabat, Morocco.
  • Vago P; Medical Genetics department, CHU Timone enfants, Assistance Publique des Hôpitaux de Marseille, Marseille, France.
  • Sanlaville D; Cytogenetics and Reproductive Biology department, CHU d'Amiens, Amiens, France.
  • Dupont JM; Plastic reconstructive and aesthetic surgery, Maison Blanche Hospital, Robert Debré Hospital, Reims, France.
  • Benzacken B; Pediatrics, CAMSP, Troyes, France.
  • Pipiras E; Department of Histology, Cytology, Cytogenetics, Cell Biology and Reproduction, Limoges University Hospital, Limoges, France.
J Med Genet ; 57(5): 301-307, 2020 05.
Article in En | MEDLINE | ID: mdl-30287593
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Full text: 1 Database: MEDLINE Main subject: Developmental Disabilities / MicroRNAs / Autism Spectrum Disorder / Intellectual Disability / Microtubule-Associated Proteins Type of study: Etiology_studies / Guideline / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Language: En Year: 2020 Type: Article
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Full text: 1 Database: MEDLINE Main subject: Developmental Disabilities / MicroRNAs / Autism Spectrum Disorder / Intellectual Disability / Microtubule-Associated Proteins Type of study: Etiology_studies / Guideline / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Language: En Year: 2020 Type: Article