Your browser doesn't support javascript.
loading
De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.
Tolchin, Dara; Yeager, Jessica P; Prasad, Priya; Dorrani, Naghmeh; Russi, Alvaro Serrano; Martinez-Agosto, Julian A; Haseeb, Abdul; Angelozzi, Marco; Santen, G W E; Ruivenkamp, Claudia; Mercimek-Andrews, Saadet; Depienne, Christel; Kuechler, Alma; Mikat, Barbara; Ludecke, Hermann-Josef; Bilan, Frederic; Le Guyader, Gwenael; Gilbert-Dussardier, Brigitte; Keren, Boris; Heide, Solveig; Haye, Damien; Van Esch, Hilde; Keldermans, Liesbeth; Ortiz, Damara; Lancaster, Emily; Krantz, Ian D; Krock, Bryan L; Pechter, Kieran B; Arkader, Alexandre; Medne, Livija; DeChene, Elizabeth T; Calpena, Eduardo; Melistaccio, Giada; Wilkie, Andrew O M; Suri, Mohnish; Foulds, Nicola; Begtrup, Amber; Henderson, Lindsay B; Forster, Cara; Reed, Patrick; McDonald, Marie T; McConkie-Rosell, Allyn; Thevenon, Julien; Le Tanno, Pauline; Coutton, Charles; Tsai, Anne C H; Stewart, Sarah; Maver, Ales; Gorazd, Rudolf; Pichon, Olivier.
Afiliação
  • Tolchin D; Department of Surgery, Division of Orthopaedic Surgery, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Yeager JP; Department of Surgery, Division of Orthopaedic Surgery, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Prasad P; Department of Obstetrics and Gynecology, Wayne State University School of Medicine, Detroit, MI 48201, USA.
  • Dorrani N; Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA.
  • Russi AS; Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, CA 90027, USA.
  • Martinez-Agosto JA; Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA.
  • Haseeb A; Department of Surgery, Division of Orthopaedic Surgery, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Angelozzi M; Department of Surgery, Division of Orthopaedic Surgery, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Santen GWE; Department of Clinical Genetics, Leiden University Medical Centre, 2300 LC Leiden, the Netherlands.
  • Ruivenkamp C; Department of Clinical Genetics, Leiden University Medical Centre, 2300 LC Leiden, the Netherlands.
  • Mercimek-Andrews S; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1X8, Canada; Institute of Medical Sciences, University of Toronto, Toronto, ON M5G 1X8, Canada.
  • Depienne C; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, 45147 Essen, Germany.
  • Kuechler A; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, 45147 Essen, Germany.
  • Mikat B; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, 45147 Essen, Germany.
  • Ludecke HJ; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, 45147 Essen, Germany; Institute für Humangenetik, Universitätsklinikum Düsseldorf, Heinrich-Heine-Universität, 40225 Düsseldorf, Germany.
  • Bilan F; Neurovascular Unit and Cognitive Disorders (EA-3808 NEUVACOD), Université de Poitiers, 86073 Poitiers, France; Service de Génétique Clinique, Centre Hospitalier Universitaire de Poitiers, 86021 Poitiers, France.
  • Le Guyader G; Neurovascular Unit and Cognitive Disorders (EA-3808 NEUVACOD), Université de Poitiers, 86073 Poitiers, France; Service de Génétique Clinique, Centre Hospitalier Universitaire de Poitiers, 86021 Poitiers, France.
  • Gilbert-Dussardier B; Neurovascular Unit and Cognitive Disorders (EA-3808 NEUVACOD), Université de Poitiers, 86073 Poitiers, France; Service de Génétique Clinique, Centre Hospitalier Universitaire de Poitiers, 86021 Poitiers, France.
  • Keren B; Assistance Publique-Hôpitaux de Paris, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique, 75013 Paris, France.
  • Heide S; Assistance Publique-Hôpitaux de Paris, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique, 75013 Paris, France.
  • Haye D; Service de Génétique, Centre Hospitalier Universitaire de Nice Hôpital de l'Archet 2,151 route Saint Antoine de la Ginestière, 062002 Nice, France.
  • Van Esch H; Center for Human Genetics, University Hospitals Leuven, 3000 Leuven, Belgium.
  • Keldermans L; Laboratory for Molecular Diagnosis, Center for Human Genetics, University Hospitals Leuven, 3000 Leuven, Belgium.
  • Ortiz D; University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, PA 15224, USA.
  • Lancaster E; University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, PA 15224, USA.
  • Krantz ID; Roberts Individualized Medical Genetics Center, Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Krock BL; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Pechter KB; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Arkader A; Department of Surgery, Division of Orthopaedic Surgery, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Medne L; Roberts Individualized Medical Genetics Center, Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • DeChene ET; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Calpena E; MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK.
  • Melistaccio G; MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK.
  • Wilkie AOM; MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK; Clinical Genetics Service, Nottingham University Hospitals NHS Trust, City Hospital Campus, Nottingham NG5 1PB, UK.
  • Suri M; Clinical Genetics Service, Nottingham University Hospitals NHS Trust, City Hospital Campus, Nottingham NG5 1PB, UK.
  • Foulds N; Wessex Clinical Genetics Services, University Hospital Southampton NHS Foundation Trust, Southampton SO16 5YA, UK.
  • Begtrup A; GeneDx, Gaithersburg, MD 20877, USA.
  • Henderson LB; GeneDx, Gaithersburg, MD 20877, USA.
  • Forster C; GeneDx, Gaithersburg, MD 20877, USA.
  • Reed P; GeneDx, Gaithersburg, MD 20877, USA.
  • McDonald MT; Division of Medical Genetics, Department of Pediatrics, Duke University, Durham, NC 27707, USA.
  • McConkie-Rosell A; Division of Medical Genetics, Department of Pediatrics, Duke University, Durham, NC 27707, USA.
  • Thevenon J; Service de Génétique, Génomique, et Procréation, Centre Hospitalier Universitaire Grenoble Alpes, 38700 La Tronche, France; INSERM 1209, CNRS UMR 5309, Institute for Advanced Biosciences, Université Grenoble Alpes, 38706 Grenoble, France.
  • Le Tanno P; Service de Génétique, Génomique, et Procréation, Centre Hospitalier Universitaire Grenoble Alpes, 38700 La Tronche, France; INSERM 1209, CNRS UMR 5309, Institute for Advanced Biosciences, Université Grenoble Alpes, 38706 Grenoble, France.
  • Coutton C; Service de Génétique, Génomique, et Procréation, Centre Hospitalier Universitaire Grenoble Alpes, 38700 La Tronche, France; INSERM 1209, CNRS UMR 5309, Institute for Advanced Biosciences, Université Grenoble Alpes, 38706 Grenoble, France.
  • Tsai ACH; Section of Genetics, Department of Pediatrics, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, CO 80045, USA.
  • Stewart S; Section of Genetics, Department of Pediatrics, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, CO 80045, USA.
  • Maver A; Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia.
  • Gorazd R; Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia.
  • Pichon O; Centre Hospitalier Universitaire Nantes, Service de Génétique Médicale, 44000 Nantes, France.
Am J Hum Genet ; 106(6): 830-845, 2020 06 04.
Article em En | MEDLINE | ID: mdl-32442410
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: Transtorno do Deficit de Atenção com Hiperatividade / Osteocondroma / Craniossinostoses / Fatores de Transcrição SOXD / Transtornos do Neurodesenvolvimento Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Estados Unidos 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: Transtorno do Deficit de Atenção com Hiperatividade / Osteocondroma / Craniossinostoses / Fatores de Transcrição SOXD / Transtornos do Neurodesenvolvimento Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos