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Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome.
Angelozzi, Marco; Karvande, Anirudha; Molin, Arnaud N; Ritter, Alyssa L; Leonard, Jacqueline M M; Savatt, Juliann M; Douglass, Kristen; Myers, Scott M; Grippa, Mina; Tolchin, Dara; Zackai, Elaine; Donoghue, Sarah; Hurst, Anna C E; Descartes, Maria; Smith, Kirstin; Velasco, Danita; Schmanski, Andrew; Crunk, Amy; Tokita, Mari J; de Lange, Iris M; van Gassen, Koen; Robinson, Hannah; Guegan, Katie; Suri, Mohnish; Patel, Chirag; Bournez, Marie; Faivre, Laurence; Tran-Mau-Them, Frédéric; Baker, Janice; Fabie, Noelle; Weaver, K; Shillington, Amelle; Hopkin, Robert J; Barge-Schaapveld, Daniela Q C M; Ruivenkamp, Claudia Al; Bökenkamp, Regina; Vergano, Samantha; Seco Moro, Maria Noelia; Díaz de Bustamante, Aranzazu; Misra, Vinod K; Kennelly, Kelly; Rogers, Caleb; Friedman, Jennifer; Wigby, Kristen M; Lenberg, Jerica; Graziano, Claudio; Ahrens-Nicklas, Rebecca C; Lefebvre, Veronique.
Afiliação
  • Angelozzi M; Surgery/Division of Orthopaedic Surgery, The Children's Hospital of Philadelphia Research Institute, Philadelphia, Pennsylvania, USA.
  • Karvande A; Surgery/Division of Orthopaedic Surgery, The Children's Hospital of Philadelphia Research Institute, Philadelphia, Pennsylvania, USA.
  • Molin AN; Surgery/Division of Orthopaedic Surgery, The Children's Hospital of Philadelphia Research Institute, Philadelphia, Pennsylvania, USA.
  • Ritter AL; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Leonard JMM; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Savatt JM; Autism & Developmental Medicine Institute, Geisinger, Danville, Pennsylvania, USA.
  • Douglass K; Autism & Developmental Medicine Institute, Geisinger, Danville, Pennsylvania, USA.
  • Myers SM; Autism & Developmental Medicine Institute, Geisinger, Danville, Pennsylvania, USA.
  • Grippa M; U.O. Genetica Medica, Universita di Bologna, Bologna, Italy.
  • Tolchin D; Surgery/Division of Orthopaedic Surgery, The Children's Hospital of Philadelphia Research Institute, Philadelphia, Pennsylvania, USA.
  • Zackai E; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Donoghue S; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Hurst ACE; Department of Genetics, The University of Alabama at Birmingham School of Medicine, Birmingham, Alabama, USA.
  • Descartes M; Department of Genetics, The University of Alabama at Birmingham School of Medicine, Birmingham, Alabama, USA.
  • Smith K; Department of Genetics, The University of Alabama at Birmingham School of Medicine, Birmingham, Alabama, USA.
  • Velasco D; Department of Pediatrics, University of Nebraska Medical Center, Omaha, Nebraska, USA.
  • Schmanski A; Department of Pediatrics, University of Nebraska Medical Center, Omaha, Nebraska, USA.
  • Crunk A; GeneDx Inc, Gaithersburg, Maryland, USA.
  • Tokita MJ; GeneDx Inc, Gaithersburg, Maryland, USA.
  • de Lange IM; Department of Medical Genetics, University Medical Centre Utrecht Brain Centre, Utrecht, The Netherlands.
  • van Gassen K; Department of Medical Genetics, University Medical Centre Utrecht Brain Centre, Utrecht, The Netherlands.
  • Robinson H; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
  • Guegan K; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
  • Suri M; Clinical Genetics, Nottingham University Hospitals NHS Trust, Nottingham, UK.
  • Patel C; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, Queensland, Australia.
  • Bournez M; Centres de référence Anomalies du Développement et Syndrome Malformatifs, Centre Hospitalier Universitaire de Dijon, Dijon, France.
  • Faivre L; Centre de Génétique, Centre Hospitalier Universitaire de Dijon Hôpital d'Enfants, Dijon, France.
  • Tran-Mau-Them F; Genetics of Developmental Disorders, INSERM - Bourgogne Franche-Comté University, UMR 1231 GAD Team, Dijon, France.
  • Baker J; Functional Unit 6254 Innovation in Genomic Diagnosis of Rare Diseases, CHU Dijon Bourgogne, Dijon, France.
  • Fabie N; Genomics and Genetic Medicine, Children's Minnesota, Minneapolis, Minnesota, USA.
  • Weaver K; Genomics and Genetic Medicine, Children's Minnesota, Minneapolis, Minnesota, USA.
  • Shillington A; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
  • Hopkin RJ; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
  • Barge-Schaapveld DQCM; Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
  • Ruivenkamp CA; Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Bökenkamp R; Laboratory for Diagnostic Genome Analyses, Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Vergano S; Department of Pediatric Cardiology, Leiden University Medical Center, Leiden, The Netherlands.
  • Seco Moro MN; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia, USA.
  • Díaz de Bustamante A; Clinical Analysis Department, Hospital Universitario de Móstoles, Mostoles, Spain.
  • Misra VK; Department of Genetics, Hospital Universitario de Móstoles, Mostoles, Spain.
  • Kennelly K; Department of Pediatrics, Division of Genetic, Genomic, and Metabolic Disorders, Children's Hospital of Michigan, Detroit, Michigan, USA.
  • Rogers C; Discipline of Pediatrics, Central Michigan University, Mount Pleasant, Michigan, USA.
  • Friedman J; Department of Pediatrics, Children's Hospital of Michigan, Detroit, Michigan, USA.
  • Wigby KM; Department of Molecular and Medical Genetics, Oregon Health & Science University School of Medicine, Portland, Oregon, USA.
  • Lenberg J; Department of Pediatrics, University of California San Diego, San Diego, California, USA.
  • Graziano C; Division of Genetics/Dysmorphology and Institute for Genomic Medicine, Rady Children's Hospital, San Diego, California, USA.
  • Ahrens-Nicklas RC; Department of Neurosciences, University of California San Diego, San Diego, California, USA.
  • Lefebvre V; Division of Neurology, Rady Children's Hospital, San Diego, California, USA.
J Med Genet ; 59(11): 1058-1068, 2022 11.
Article em En | MEDLINE | ID: mdl-35232796
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Deformidades Congênitas da Mão / Transtornos do Neurodesenvolvimento / Deficiência Intelectual / Micrognatismo Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Deformidades Congênitas da Mão / Transtornos do Neurodesenvolvimento / Deficiência Intelectual / Micrognatismo Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article