Your browser doesn't support javascript.
loading
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.
Küry, Sébastien; Besnard, Thomas; Ebstein, Frédéric; Khan, Tahir N; Gambin, Tomasz; Douglas, Jessica; Bacino, Carlos A; Craigen, William J; Sanders, Stephan J; Lehmann, Andrea; Latypova, Xénia; Khan, Kamal; Pacault, Mathilde; Sacharow, Stephanie; Glaser, Kimberly; Bieth, Eric; Perrin-Sabourin, Laurence; Jacquemont, Marie-Line; Cho, Megan T; Roeder, Elizabeth; Denommé-Pichon, Anne-Sophie; Monaghan, Kristin G; Yuan, Bo; Xia, Fan; Simon, Sylvain; Bonneau, Dominique; Parent, Philippe; Gilbert-Dussardier, Brigitte; Odent, Sylvie; Toutain, Annick; Pasquier, Laurent; Barbouth, Deborah; Shaw, Chad A; Patel, Ankita; Smith, Janice L; Bi, Weimin; Schmitt, Sébastien; Deb, Wallid; Nizon, Mathilde; Mercier, Sandra; Vincent, Marie; Rooryck, Caroline; Malan, Valérie; Briceño, Ignacio; Gómez, Alberto; Nugent, Kimberly M; Gibson, James B; Cogné, Benjamin; Lupski, James R; Stessman, Holly A F.
Afiliação
  • Küry S; Service de Génétique Médicale, CHU de Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France.
  • Besnard T; Service de Génétique Médicale, CHU de Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France.
  • Ebstein F; Institute of Biochemistry, Charité Universitätsmedizin Berlin, Charité Platz 1/Virchowweg 6, 10117 Berlin, Germany.
  • Khan TN; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27710, USA.
  • Gambin T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Institute of Computer Science, Warsaw University of Technology, Warsaw 00-661, Poland; Department of Medical Genetics, Institute of Mother and Child, Warsaw 01-211, Poland.
  • Douglas J; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
  • Bacino CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston TX, 77030, USA.
  • Craigen WJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston TX, 77030, USA.
  • Sanders SJ; Department of Psychiatry, Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94158, USA.
  • Lehmann A; Institute of Biochemistry, Charité Universitätsmedizin Berlin, Charité Platz 1/Virchowweg 6, 10117 Berlin, Germany.
  • Latypova X; Service de Génétique Médicale, CHU de Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France.
  • Khan K; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27710, USA.
  • Pacault M; Service de Génétique Médicale, CHU de Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France.
  • Sacharow S; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
  • Glaser K; Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, FL 33136, USA.
  • Bieth E; Service de Génétique Médicale, Hôpital Purpan, CHU de Toulouse, 31059 Toulouse, France.
  • Perrin-Sabourin L; Fédération de Génétique, Hôpital Robert Debré, Assistance Publique - Hôpitaux de Paris, 75935 Paris Cedex 19, France.
  • Jacquemont ML; Génétique Médicale, CHU de La Réunion, 97448 Saint Pierre, La Réunion, France.
  • Cho MT; GeneDx, Gaithersburg, MD 20877, USA.
  • Roeder E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX 78207, USA.
  • Denommé-Pichon AS; Département de Biochimie et Génétique, CHU d'Angers, 49933 Angers Cedex 9, France.
  • Monaghan KG; GeneDx, Gaithersburg, MD 20877, USA.
  • Yuan B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston TX, 77030, USA.
  • Xia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston TX, 77030, USA.
  • Simon S; Centre de Recherche en Cancérologie et Immunologie Nantes-Angers, INSERM, Université d'Angers et Université de Nantes, 44007 Nantes, France; LabEx "Immunotherapy, Graft, Oncology," 44093 Nantes, France; Department of Dermato-cancerology, CHU de Nantes, 44093 Nantes, France.
  • Bonneau D; Département de Biochimie et Génétique, CHU d'Angers, 49933 Angers Cedex 9, France; INSERM UMR 1083, CNRS UMR 6214, 49933 Angers Cedex 9, France.
  • Parent P; Génétique Médicale, CHRU de Brest, 29609 Brest, France.
  • Gilbert-Dussardier B; Service de Génétique, CHU de Poitiers, BP 577, 86021 Poitiers, France; Equipe d'Accueil 3808, Université de Poitiers, 86022 Poitiers Cedex, France.
  • Odent S; Service de Génétique Clinique, Centre Hospitalier Universitaire de Rennes, 35203 Rennes, France; CNRS UMR 6290, Université de Rennes 1, 2 Avenue du Professeur Léon Bernard, 35043 Rennes, France.
  • Toutain A; Service de Génétique, CHU de Tours, 2 Boulevard Tonnellé, 37044 Tours, France; INSERM UMR U930, Faculté de Médecine, Université François Rabelais, 37044 Tours, France.
  • Pasquier L; Service de Génétique Clinique, Centre Hospitalier Universitaire de Rennes, 35203 Rennes, France; CNRS UMR 6290, Université de Rennes 1, 2 Avenue du Professeur Léon Bernard, 35043 Rennes, France.
  • Barbouth D; Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, FL 33136, USA.
  • Shaw CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston TX, 77030, USA.
  • Patel A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston TX, 77030, USA.
  • Smith JL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston TX, 77030, USA.
  • Bi W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston TX, 77030, USA.
  • Schmitt S; Service de Génétique Médicale, CHU de Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France.
  • Deb W; Service de Génétique Médicale, CHU de Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France.
  • Nizon M; Service de Génétique Médicale, CHU de Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France.
  • Mercier S; Service de Génétique Médicale, CHU de Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France.
  • Vincent M; Service de Génétique Médicale, CHU de Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France.
  • Rooryck C; Service de Génétique Médicale, CHU de Bordeaux, 33076 Bordeaux, France.
  • Malan V; Service d'Histologie-Embryologie-Cytogénétique, Hôpital Necker-Enfants Malades, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France.
  • Briceño I; Instituto de Genética Humana, Facultad de Medicina, Pontificia Universidad Javeriana, 110231 Bogotá, Colombia.
  • Gómez A; Instituto de Genética Humana, Facultad de Medicina, Pontificia Universidad Javeriana, 110231 Bogotá, Colombia.
  • Nugent KM; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX 78207, USA.
  • Gibson JB; Clinical and Metabolic Genetics, 'Specially for Children, Austin, TX 78723, USA.
  • Cogné B; Service de Génétique Médicale, CHU de Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France.
  • Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Texas Children's Hospital, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
  • Stessman HAF; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Am J Hum Genet ; 100(2): 352-363, 2017 Feb 02.
Article em En | MEDLINE | ID: mdl-28132691
Assuntos
Palavras-chave
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Complexo de Endopeptidases do Proteassoma / Transtornos do Neurodesenvolvimento Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Adolescent / Animals / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2017 Tipo de documento: Article País de afiliação: França País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Complexo de Endopeptidases do Proteassoma / Transtornos do Neurodesenvolvimento Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Adolescent / Animals / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2017 Tipo de documento: Article País de afiliação: França País de publicação: Estados Unidos