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Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder.
Latypova, Xenia; Vincent, Marie; Mollé, Alice; Adebambo, Oluwadamilare A; Fourgeux, Cynthia; Khan, Tahir N; Caro, Alfonso; Rosello, Monica; Orellana, Carmen; Niyazov, Dmitriy; Lederer, Damien; Deprez, Marie; Capri, Yline; Kannu, Peter; Tabet, Anne Claude; Levy, Jonathan; Aten, Emmelien; den Hollander, Nicolette; Splitt, Miranda; Walia, Jagdeep; Immken, Ladonna L; Stankiewicz, Pawel; McWalter, Kirsty; Suchy, Sharon; Louie, Raymond J; Bell, Shannon; Stevenson, Roger E; Rousseau, Justine; Willem, Catherine; Retiere, Christelle; Yang, Xiang-Jiao; Campeau, Philippe M; Martinez, Francisco; Rosenfeld, Jill A; Le Caignec, Cédric; Küry, Sébastien; Mercier, Sandra; Moradkhani, Kamran; Conrad, Solène; Besnard, Thomas; Cogné, Benjamin; Katsanis, Nicholas; Bézieau, Stéphane; Poschmann, Jeremie; Davis, Erica E; Isidor, Bertrand.
Affiliation
  • Latypova X; Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA; L'Institut du Thorax, INSERM, CNRS, Université de Nantes, 44007 Nantes, France.
  • Vincent M; Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; L'Institut du Thorax, INSERM, CNRS, Université de Nantes, 44007 Nantes, France.
  • Mollé A; Université de Nantes, CHU Nantes, Inserm, Centre de Recherche en Transplantation et Immunologie, UMR 1064, ITUN, 44000 Nantes, France.
  • Adebambo OA; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA.
  • Fourgeux C; Université de Nantes, CHU Nantes, Inserm, Centre de Recherche en Transplantation et Immunologie, UMR 1064, ITUN, 44000 Nantes, France.
  • Khan TN; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA; Department of Biological Sciences, National University of Medical Sciences, 46000 Rawalpindi, Pakistan.
  • Caro A; Unidad de Genética, Grupo de Investigación Traslacional en Genética, Hospital Universitario y Politécnico La Fe, 46026 Valencia, Spain.
  • Rosello M; Unidad de Genética, Grupo de Investigación Traslacional en Genética, Hospital Universitario y Politécnico La Fe, 46026 Valencia, Spain.
  • Orellana C; Unidad de Genética, Grupo de Investigación Traslacional en Genética, Hospital Universitario y Politécnico La Fe, 46026 Valencia, Spain.
  • Niyazov D; Department of Pediatrics, Ochsner Clinic, New Orleans, LA 70128, USA.
  • Lederer D; Centre de Génétique Humaine, IPG, 6041 Gosselies, Belgium.
  • Deprez M; Service de Neuropédiatrie, Clinique Saint Elizabeth, 5000 Namur, Belgium.
  • Capri Y; Service de Génétique Médicale, Hôpital Robert Debré, 75019 Paris, France.
  • Kannu P; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
  • Tabet AC; Service de Cytogénétique, Hôpital Robert Debré, 75019 Paris, France.
  • Levy J; Service de Cytogénétique, Hôpital Robert Debré, 75019 Paris, France.
  • Aten E; Department of Clinical Genetics, Leiden University Medical Center, 2333 Leiden, the Netherlands.
  • den Hollander N; Department of Clinical Genetics, Leiden University Medical Center, 2333 Leiden, the Netherlands.
  • Splitt M; Northern Genetics Service, Institute of Genetic Medicine, Newcastle Upon Tyne NE1 3BZ, UK.
  • Walia J; Kingston General Hospital Research Institute, 76 Stuart Street, Kingston, ON K7L 2V7, Canada.
  • Immken LL; Clinical Genetics, Dell Children's Medical Group, Austin, TX 78731, USA.
  • Stankiewicz P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • McWalter K; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
  • Suchy S; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
  • Louie RJ; Greenwood Genetic Center, 106 Gregor Mendel Cir, Greenwood, SC 29646, USA.
  • Bell S; Greenwood Genetic Center, 106 Gregor Mendel Cir, Greenwood, SC 29646, USA.
  • Stevenson RE; Greenwood Genetic Center, 106 Gregor Mendel Cir, Greenwood, SC 29646, USA.
  • Rousseau J; Sainte-Justine Hospital, 3175, Cote-Sainte-Catherine, Montreal, QC, Canada.
  • Willem C; Etablissement Français du Sang, 44000 Nantes, France.
  • Retiere C; Etablissement Français du Sang, 44000 Nantes, France; CRCINA, INSERM, CNRS, Université d'Angers, Université de Nantes, 44000 Nantes, France; LabEx IGO, Nantes 44000, France.
  • Yang XJ; Rosalind & Morris Goodman Cancer Research Center and Department of Medicine, McGill University, Montreal, QC H3A 1A3, Canada.
  • Campeau PM; Sainte-Justine Hospital, 3175, Cote-Sainte-Catherine, Montreal, QC, Canada.
  • Martinez F; Unidad de Genética, Grupo de Investigación Traslacional en Genética, Hospital Universitario y Politécnico La Fe, 46026 Valencia, Spain.
  • Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Le Caignec C; Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; L'Institut du Thorax, INSERM, CNRS, Université de Nantes, 44007 Nantes, France.
  • Küry S; Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; L'Institut du Thorax, INSERM, CNRS, Université de Nantes, 44007 Nantes, France.
  • Mercier S; Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; L'Institut du Thorax, INSERM, CNRS, Université de Nantes, 44007 Nantes, France.
  • Moradkhani K; Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France.
  • Conrad S; Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France.
  • Besnard T; Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; L'Institut du Thorax, INSERM, CNRS, Université de Nantes, 44007 Nantes, France.
  • Cogné B; Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; L'Institut du Thorax, INSERM, CNRS, Université de Nantes, 44007 Nantes, France.
  • Katsanis N; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA; Advanced Center for Translational and Genetic Medicine, Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA; Department of Pediatrics, F
  • Bézieau S; Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; L'Institut du Thorax, INSERM, CNRS, Université de Nantes, 44007 Nantes, France.
  • Poschmann J; Université de Nantes, CHU Nantes, Inserm, Centre de Recherche en Transplantation et Immunologie, UMR 1064, ITUN, 44000 Nantes, France. Electronic address: jeremie.poschmann@univ-nantes.fr.
  • Davis EE; Advanced Center for Translational and Genetic Medicine, Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA; Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA. Electronic ad
  • Isidor B; Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; L'Institut du Thorax, INSERM, CNRS, Université de Nantes, 44007 Nantes, France. Electronic address: bertrand.isidor@chu-nantes.fr.
Am J Hum Genet ; 108(5): 929-941, 2021 05 06.
Article in En | MEDLINE | ID: mdl-33811806

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Repressor Proteins / Haploinsufficiency / Autism Spectrum Disorder / Histone Deacetylases / Intellectual Disability Type of study: Etiology_studies / Prognostic_studies Limits: Adolescent / Adult / Animals / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Language: En Journal: Am J Hum Genet Year: 2021 Type: Article Affiliation country: France

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Repressor Proteins / Haploinsufficiency / Autism Spectrum Disorder / Histone Deacetylases / Intellectual Disability Type of study: Etiology_studies / Prognostic_studies Limits: Adolescent / Adult / Animals / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Language: En Journal: Am J Hum Genet Year: 2021 Type: Article Affiliation country: France