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SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance.
Cordovado, Amélie; Schaettin, Martina; Jeanne, Médéric; Panasenkava, Veranika; Denommé-Pichon, Anne-Sophie; Keren, Boris; Mignot, Cyril; Doco-Fenzy, Martine; Rodan, Lance; Ramsey, Keri; Narayanan, Vinodh; Jones, Julie R; Prijoles, Eloise J; Mitchell, Wendy G; Ozmore, Jillian R; Juliette, Kali; Torti, Erin; Normand, Elizabeth A; Granger, Leslie; Petersen, Andrea K; Au, Margaret G; Matheny, Juliann P; Phornphutkul, Chanika; Chambers, Mary-Kathryn; Fernández-Ramos, Joaquín-Alejandro; López-Laso, Eduardo; Kruer, Michael C; Bakhtiari, Somayeh; Zollino, Marcella; Morleo, Manuela; Marangi, Giuseppe; Mei, Davide; Pisano, Tiziana; Guerrini, Renzo; Louie, Raymond J; Childers, Anna; Everman, David B; Isidor, Betrand; Audebert-Bellanger, Séverine; Odent, Sylvie; Bonneau, Dominique; Gilbert-Dussardier, Brigitte; Redon, Richard; Bézieau, Stéphane; Laumonnier, Frédéric; Stoeckli, Esther T; Toutain, Annick; Vuillaume, Marie-Laure.
Afiliação
  • Cordovado A; UMR 1253, iBrain, University of Tours, INSERM, Tours 37032, France.
  • Schaettin M; Department of Molecular Life Sciences, Neuroscience Center Zurich, University of Zurich, Zurich 8057, Switzerland.
  • Jeanne M; UMR 1253, iBrain, University of Tours, INSERM, Tours 37032, France.
  • Panasenkava V; Genetics Department, University Hospital of Tours, Tours 37044, France.
  • Denommé-Pichon AS; UMR 1253, iBrain, University of Tours, INSERM, Tours 37032, France.
  • Keren B; Functional Unit in Innovative Genomic Diagnosis of Rare Diseases, FHU-TRANSLAD, Dijon-Bourgogne University Hospital, Dijon 21079, France.
  • Mignot C; UMR1231 GAD, INSERM - Bourgogne-Franche Comté University, Dijon 21000, France.
  • Doco-Fenzy M; Genetics Department, Pitié-Salpêtrière Hospital, AP-HP. Sorbonne University, Paris 75651, France.
  • Rodan L; Genetics Department, Pitié-Salpêtrière Hospital, AP-HP. Sorbonne University, Paris 75651, France.
  • Ramsey K; University Hospital Reims, AMH2, Genetics Division, SFR CAP santé EA3801, Reims 51100, France.
  • Narayanan V; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA.
  • Jones JR; Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.
  • Prijoles EJ; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ 85012, USA.
  • Mitchell WG; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ 85012, USA.
  • Ozmore JR; Molecular Diagnostic Laboratory, Greenwood Genetic Center, Greenwood, SC 29646, USA.
  • Juliette K; Greenwood Genetic Center, Greenwood, SC 29646, USA.
  • Torti E; Neurology Division, Keck School of Medicine, University of Southern California, Children's Hospital Los Angeles, CA 90027, USA.
  • Normand EA; Dartmouth Hitchcock Medical Center, Lebanon, NH 03766, USA.
  • Granger L; Neurology Department, Gillette Children's Specialty Healthcare, St Paul, MN 55101, USA.
  • Petersen AK; GeneDx, Gaithersburg, MD 20877, USA.
  • Au MG; GeneDx, Gaithersburg, MD 20877, USA.
  • Matheny JP; Genetics Division, Department of Pediatric Development and Rehabilitation, Randall Children's Hospital, Portland, OR 97227, USA.
  • Phornphutkul C; Genetics Division, Department of Pediatric Development and Rehabilitation, Randall Children's Hospital, Portland, OR 97227, USA.
  • Chambers MK; Department of Genetics and Metabolism, University of Kentucky, Lexington, KY 40536, USA.
  • Fernández-Ramos JA; Department of Genetics and Metabolism, University of Kentucky, Lexington, KY 40536, USA.
  • López-Laso E; Division of Human Genetics, Department of Pediatrics, Warren Alpert Medical School of Brown University, Hasbro Children's Hospital, Providence, RI 02903, USA.
  • Kruer MC; Division of Genetics, Rhode Island Hospital, Hasbro Children's Hospital, Providence, RI 02903, USA.
  • Bakhtiari S; Pediatric Neurology Unit, Department of Pediatrics, University Hospital Reina Sofía, IMIBIC and CIBERER, Córdoba 14004, Spain.
  • Zollino M; Pediatric Neurology Unit, Department of Pediatrics, University Hospital Reina Sofía, IMIBIC and CIBERER, Córdoba 14004, Spain.
  • Morleo M; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.
  • Marangi G; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.
  • Mei D; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.
  • Pisano T; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.
  • Guerrini R; Università Cattolica Sacro Cuore, Dipartimento Scienze della Vita e Sanità Pubblica, Sezione di Medicina Genomica, Roma 00168, Italy.
  • Louie RJ; Fondazione Policlinico A. Gemelli IRCCS, U. O. C. Genetica Medica, Roma 00168, Italy.
  • Childers A; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples 80078, Italy.
  • Everman DB; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples 80138, Italy.
  • Isidor B; Università Cattolica Sacro Cuore, Dipartimento Scienze della Vita e Sanità Pubblica, Sezione di Medicina Genomica, Roma 00168, Italy.
  • Audebert-Bellanger S; Fondazione Policlinico A. Gemelli IRCCS, U. O. C. Genetica Medica, Roma 00168, Italy.
  • Odent S; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, Member of ERN Epicare, University of Florence, Florence 50139, Italy.
  • Bonneau D; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, Member of ERN Epicare, University of Florence, Florence 50139, Italy.
  • Gilbert-Dussardier B; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, Member of ERN Epicare, University of Florence, Florence 50139, Italy.
  • Redon R; Molecular Diagnostic Laboratory, Greenwood Genetic Center, Greenwood, SC 29646, USA.
  • Bézieau S; Molecular Diagnostic Laboratory, Greenwood Genetic Center, Greenwood, SC 29646, USA.
  • Laumonnier F; Molecular Diagnostic Laboratory, Greenwood Genetic Center, Greenwood, SC 29646, USA.
  • Stoeckli ET; Medical Genetics Service, Clinical Genetics Unit, University Hospital of Nantes, Hôtel Dieu, Nantes 44093, France.
  • Toutain A; Clinical Genetics Service, University Hospital of Brest, Morvan Hospital, Brest 29609, France.
  • Vuillaume ML; Clinical Genetics Service, University Hospital, Genetic and Development Institute of Rennes IGDR, UMR 6290 University of Rennes, ITHACA ERN, Rennes 35203, France.
Hum Mol Genet ; 31(19): 3325-3340, 2022 09 29.
Article em En | MEDLINE | ID: mdl-35604360
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Semaforinas / Epilepsia / Deficiência Intelectual Tipo de estudo: Guideline Limite: Animals / Humans Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: França
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Semaforinas / Epilepsia / Deficiência Intelectual Tipo de estudo: Guideline Limite: Animals / Humans Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: França