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Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.
D'Onofrio, Gianluca; Accogli, Andrea; Severino, Mariasavina; Caliskan, Haluk; Kokotovic, Tomislav; Blazekovic, Antonela; Jercic, Kristina Gotovac; Markovic, Silvana; Zigman, Tamara; Goran, Krnjak; Barisic, Nina; Duranovic, Vlasta; Ban, Ana; Borovecki, Fran; Ramadza, Danijela Petkovic; Baric, Ivo; Fazeli, Walid; Herkenrath, Peter; Marini, Carla; Vittorini, Roberta; Gowda, Vykuntaraju; Bouman, Arjan; Rocca, Clarissa; Alkhawaja, Issam Azmi; Murtaza, Bibi Nazia; Rehman, Malik Mujaddad Ur; Al Alam, Chadi; Nader, Gisele; Mancardi, Maria Margherita; Giacomini, Thea; Srivastava, Siddharth; Alvi, Javeria Raza; Tomoum, Hoda; Matricardi, Sara; Iacomino, Michele; Riva, Antonella; Scala, Marcello; Madia, Francesca; Pistorio, Angela; Salpietro, Vincenzo; Minetti, Carlo; Rivière, Jean-Baptiste; Srour, Myriam; Efthymiou, Stephanie; Maroofian, Reza; Houlden, Henry; Vernes, Sonja Catherine; Zara, Federico; Striano, Pasquale; Nagy, Vanja.
Afiliación
  • D'Onofrio G; Department of Neurosciences Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Via Gerolamo Gaslini 5, 16147, Genoa, Italy.
  • Accogli A; Division of Medical Genetics, Department of Specialized Medicine, Montreal Children's Hospital, McGill University Health Centre (MUHC), Montreal, Canada.
  • Severino M; Department of Human Genetics, McGill University, Montreal, QC, Canada.
  • Caliskan H; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
  • Kokotovic T; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.
  • Blazekovic A; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.
  • Jercic KG; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
  • Markovic S; Department for Functional Genomics, Center for Translational and Clinical Research, University of Zagreb School of Medicine, Zagreb University Hospital Center, Zagreb, Croatia.
  • Zigman T; Department for Functional Genomics, Center for Translational and Clinical Research, University of Zagreb School of Medicine, Zagreb University Hospital Center, Zagreb, Croatia.
  • Goran K; Department of Neurology, University Hospital Center Zagreb, University of Zagreb School of Medicine, 10000, Zagreb, Croatia.
  • Barisic N; Department of Pediatrics, General Hospital dr. Tomislav Bardek Koprivnica, Koprivnica, Croatia.
  • Duranovic V; Department of Paediatrics, University Hospital Center Zagreb and University of Zagreb School of Medicine, Zagreb, Croatia.
  • Ban A; Department of Pediatrics, Varazdin General Hospital, Varazdin, Croatia.
  • Borovecki F; Department of Paediatrics, University Hospital Center Zagreb and University of Zagreb School of Medicine, Zagreb, Croatia.
  • Ramadza DP; Division of Neuropediatrics, Department of Pediatrics, Children's Hospital Zagre, Zagreb, Croatia.
  • Baric I; Division of Neuropediatrics, Department of Pediatrics, Children's Hospital Zagre, Zagreb, Croatia.
  • Fazeli W; Department for Functional Genomics, Center for Translational and Clinical Research, University of Zagreb School of Medicine, Zagreb University Hospital Center, Zagreb, Croatia.
  • Herkenrath P; Department of Neurology, University Hospital Center Zagreb, University of Zagreb School of Medicine, 10000, Zagreb, Croatia.
  • Marini C; Department of Paediatrics, University Hospital Center Zagreb and University of Zagreb School of Medicine, Zagreb, Croatia.
  • Vittorini R; Department of Paediatrics, University Hospital Center Zagreb and University of Zagreb School of Medicine, Zagreb, Croatia.
  • Gowda V; Department of Pediatric Neurology, University Hospital Bonn, Bonn, Germany.
  • Bouman A; Department of Pediatric Neurology, University Hospital Bonn, Bonn, Germany.
  • Rocca C; Child Neurology and Psychiatry Unit Children's Hospital "G. Salesi" Azienda Ospedaliero-Universitaria delle Marche Ancona, Ancona, Italy.
  • Alkhawaja IA; Department of Pediatrics, Regina Margherita Children's Hospital, Turin, Italy.
  • Murtaza BN; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India.
  • Rehman MMU; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
  • Al Alam C; Department of Neuromuscular Disorders, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.
  • Nader G; Pediatric Neurology Unit, Pediatric Department, Albashir Hospital, Amman, Jordan.
  • Mancardi MM; Department of Zoology, Abbottabad University of Science and Technology, Abbottabad, Pakistan.
  • Giacomini T; Department of Microbiology, Abbottabad University of Science and Technology KP, Abbottabad, Pakistan.
  • Srivastava S; Division of Pediatric Neurology, Department of Pediatrics, American University of Beirut Medical Center, Beirut, Lebanon.
  • Alvi JR; Division of Pediatric Neurology, Department of Pediatrics, American University of Beirut Medical Center, Beirut, Lebanon.
  • Tomoum H; Unit of Child Neuropsychiatry, Department of Clinical and Surgical Neuroscience and Rehabilitation, Epilepsy Center, EPICARE Reference Network, IRCCS Giannina Gaslini, Genoa, Italy.
  • Matricardi S; Unit of Child Neuropsychiatry, Department of Clinical and Surgical Neuroscience and Rehabilitation, Epilepsy Center, EPICARE Reference Network, IRCCS Giannina Gaslini, Genoa, Italy.
  • Iacomino M; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
  • Riva A; Department of Pediatric Neurology, Institute of Child Health, Children's Hospital Lahore, Lahore, Pakistan.
  • Scala M; Department of Pediatrics, Ain Shams University, Cairo, Egypt.
  • Madia F; Department of Pediatrics, University of Chieti, Chieti, Italy.
  • Pistorio A; Unit of Medical Genetics-IRCCS Istituto Giannina Gaslini, Genoa, Italy.
  • Salpietro V; Department of Neurosciences Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Via Gerolamo Gaslini 5, 16147, Genoa, Italy.
  • Minetti C; Department of Neurosciences Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Via Gerolamo Gaslini 5, 16147, Genoa, Italy.
  • Rivière JB; Unit of Medical Genetics-IRCCS Istituto Giannina Gaslini, Genoa, Italy.
  • Srour M; Epidemiology and Biostatistics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
  • Efthymiou S; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
  • Maroofian R; Department of Neurosciences Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Via Gerolamo Gaslini 5, 16147, Genoa, Italy.
  • Houlden H; Department of Human Genetics, Faculty of Medicine, McGill University, Montreal, QC, H3A 1B1, Canada.
  • Vernes SC; Bioinformatics Platform, Research Institute of the McGill University Health Centre, Montréal, QC, H4A 3J1, Canada.
  • Zara F; Research Institute, McGill University Health Centre, Montreal, QC, Canada.
  • Striano P; Division of Pediatric Neurology, Department of Pediatrics, McGill University, Montreal, QC, Canada.
  • Nagy V; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
Hum Genet ; 142(7): 909-925, 2023 Jul.
Article en En | MEDLINE | ID: mdl-37183190

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Epilepsia / Trastorno del Espectro Autista Tipo de estudio: Risk_factors_studies Límite: Child / Humans Idioma: En Revista: Hum Genet Año: 2023 Tipo del documento: Article País de afiliación: Italia

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Epilepsia / Trastorno del Espectro Autista Tipo de estudio: Risk_factors_studies Límite: Child / Humans Idioma: En Revista: Hum Genet Año: 2023 Tipo del documento: Article País de afiliación: Italia