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Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.
Peluso, Francesca; Caraffi, Stefano G; Contrò, Gianluca; Valeri, Lara; Napoli, Manuela; Carboni, Giorgia; Seth, Alka; Zuntini, Roberta; Coccia, Emanuele; Astrea, Guja; Bisgaard, Anne-Marie; Ivanovski, Ivan; Maitz, Silvia; Brischoux-Boucher, Elise; Carter, Melissa T; Dentici, Maria Lisa; Devriendt, Koenraad; Bellini, Melissa; Digilio, Maria Cristina; Doja, Asif; Dyment, David A; Farholt, Stense; Ferreira, Carlos R; Wolfe, Lynne A; Gahl, William A; Gnazzo, Maria; Goel, Himanshu; Grønborg, Sabine Weller; Hammer, Trine; Iughetti, Lorenzo; Kleefstra, Tjitske; Koolen, David A; Lepri, Francesca Romana; Lemire, Gabrielle; Louro, Pedro; McCullagh, Gary; Madeo, Simona F; Milone, Annarita; Milone, Roberta; Nielsen, Jens Erik Klint; Novelli, Antonio; Ockeloen, Charlotte W; Pascarella, Rosario; Pippucci, Tommaso; Ricca, Ivana; Robertson, Stephen P; Sawyer, Sarah; Falkenberg Smeland, Marie; Stegmann, Sander; Stumpel, Constanze T.
  • Peluso F; Medical Genetics Unit, Maternal and Child Health Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Emilia-Romagna, Italy.
  • Caraffi SG; Medical Genetics Unit, Maternal and Child Health Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Emilia-Romagna, Italy.
  • Contrò G; Medical Genetics Unit, Maternal and Child Health Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Emilia-Romagna, Italy.
  • Valeri L; Medical Genetics Unit, Maternal and Child Health Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Emilia-Romagna, Italy.
  • Napoli M; Department of Pediatrics, University of Modena and Reggio Emilia Faculty of Medicine and Surgery, Modena, Emilia-Romagna, Italy.
  • Carboni G; Neuroradiology Unit, Azienda USL - IRCCS di Reggio Emilia, Reggio Emilia, Emilia-Romagna, Italy.
  • Seth A; Radiology Unit, Azienda USL - IRCCS di Reggio Emilia, Reggio Emilia, Emilia-Romagna, Italy.
  • Zuntini R; Radiology, Rigshospitalet, Kobenhavn, Denmark.
  • Coccia E; Medical Genetics Unit, Maternal and Child Health Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Emilia-Romagna, Italy.
  • Astrea G; Medical Genetics Unit, Maternal and Child Health Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Emilia-Romagna, Italy.
  • Bisgaard AM; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Calambrone, Toscana, Italy.
  • Ivanovski I; Center for Rare Diseases, Department of Pediatrics and Adolescent Medicine, Copenhagen University Hospital, Kobenhavn, Denmark.
  • Maitz S; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.
  • Brischoux-Boucher E; Service of Medical Genetics, IOSI, EOC, Lugano, Switzerland.
  • Carter MT; Hunter Genetics, John Hunter Hospital, New Lambton Heights, New South Wales, Australia.
  • Dentici ML; The University of Newcastle, Callaghan, New South Wales, Australia.
  • Devriendt K; Department of Clinical Genetics, Copenhagen University Hospital, Kobenhavn, Denmark.
  • Bellini M; Department for Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark.
  • Digilio MC; Department of Pediatrics, University of Modena and Reggio Emilia, Modena, Italy.
  • Doja A; Department of Medical and Surgical Sciences of the Mother, Children and Adults, University of Modena and Reggio Emilia, Modena, Italy.
  • Dyment DA; The University of Newcastle, Callaghan, New South Wales, Australia.
  • Farholt S; The University of Newcastle, Callaghan, New South Wales, Australia.
  • Ferreira CR; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Gelderland, Netherlands.
  • Wolfe LA; Medical Genetics Unit, Centro Hospitalar e Universitário de Coimbra EPE, Coimbra, Coimbra, Portugal.
  • Gahl WA; Medical Genetics Unit, Centro Hospitalar e Universitário de Coimbra EPE, Coimbra, Coimbra, Portugal.
  • Gnazzo M; National Human Genome Research Institute, Bethesda, Maryland, USA.
  • Goel H; Translational Cytogenomics Research Unit, Laboratory of Medical Genetics, Bambino Gesu Pediatric Hospital, Roma, Lazio, Italy.
  • Grønborg SW; Hunter Genetics, John Hunter Hospital, New Lambton Heights, New South Wales, Australia.
  • Hammer T; The University of Newcastle, Callaghan, New South Wales, Australia.
  • Iughetti L; Center for Rare Diseases, Department of Pediatrics and Adolescent Medicine, Copenhagen University Hospital, Kobenhavn, Denmark.
  • Kleefstra T; Department of Clinical Genetics, Copenhagen University Hospital, Kobenhavn, Denmark.
  • Koolen DA; Department of Clinical Genetics, Copenhagen University Hospital, Kobenhavn, Denmark.
  • Lepri FR; Department for Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark.
  • Lemire G; Department of Pediatrics, University of Modena and Reggio Emilia, Modena, Italy.
  • Louro P; Department of Medical and Surgical Sciences of the Mother, Children and Adults, University of Modena and Reggio Emilia, Modena, Italy.
  • McCullagh G; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Gelderland, Netherlands.
  • Madeo SF; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Gelderland, Netherlands.
  • Milone A; Translational Cytogenomics Research Unit, Laboratory of Medical Genetics, Bambino Gesu Pediatric Hospital, Roma, Lazio, Italy.
  • Milone R; Department of Genetics, Children's Hospital of Eastern Ontario (CHEO), Ottawa, Ontario, Canada.
  • Nielsen JEK; Medical Genetics Unit, Centro Hospitalar e Universitário de Coimbra EPE, Coimbra, Coimbra, Portugal.
  • Novelli A; Royal Manchester Children's Hospital and University of Manchester, Royal Manchester Children's Hospital, Manchester, Manchester, UK.
  • Ockeloen CW; Department of Medical and Surgical Sciences of the Mother, Children and Adults, University of Modena and Reggio Emilia, Modena, Italy.
  • Pascarella R; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Calambrone, Toscana, Italy.
  • Pippucci T; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Calambrone, Toscana, Italy.
  • Ricca I; Department of Pediatrics, Zealand University Hospital Roskilde, Roskilde, Sjaelland, Denmark.
  • Robertson SP; Translational Cytogenomics Research Unit, Laboratory of Medical Genetics, Bambino Gesu Pediatric Hospital, Roma, Lazio, Italy.
  • Sawyer S; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Gelderland, Netherlands.
  • Falkenberg Smeland M; Neuroradiology Unit, Azienda USL - IRCCS di Reggio Emilia, Reggio Emilia, Emilia-Romagna, Italy.
  • Stegmann S; U.O. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna Policlinico S Orsola, Bologna, Emilia-Romagna, Italy.
  • Stumpel CT; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Calambrone, Toscana, Italy.
J Med Genet ; 60(12): 1224-1234, 2023 Nov 27.
Article en En | MEDLINE | ID: mdl-37586838
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Anomalías Dentarias / Anomalías Múltiples / Enfermedades del Desarrollo Óseo / Discapacidad Intelectual Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Año: 2023 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Anomalías Dentarias / Anomalías Múltiples / Enfermedades del Desarrollo Óseo / Discapacidad Intelectual Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Año: 2023 Tipo del documento: Article