Your browser doesn't support javascript.
loading
Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage.
Lecca, Mauro; Pehlivan, Davut; Suñer, Damià Heine; Weiss, Karin; Coste, Thibault; Zweier, Markus; Oktay, Yavuz; Danial-Farran, Nada; Rosti, Vittorio; Bonasoni, Maria Paola; Malara, Alessandro; Contrò, Gianluca; Zuntini, Roberta; Pollazzon, Marzia; Pascarella, Rosario; Neri, Alberto; Fusco, Carlo; Marafi, Dana; Mitani, Tadahiro; Posey, Jennifer Ellen; Bayramoglu, Sadik Etka; Gezdirici, Alper; Hernandez-Rodriguez, Jessica; Cladera, Emilia Amengual; Miravet, Elena; Roldan-Busto, Jorge; Ruiz, María Angeles; Bauzá, Cristofol Vives; Ben-Sira, Liat; Sigaudy, Sabine; Begemann, Anaïs; Unger, Sheila; Güngör, Serdal; Hiz, Semra; Sonmezler, Ece; Zehavi, Yoav; Jerdev, Michael; Balduini, Alessandra; Zuffardi, Orsetta; Horvath, Rita; Lochmüller, Hanns; Rauch, Anita; Garavelli, Livia; Tournier-Lasserve, Elisabeth; Spiegel, Ronen; Lupski, James R; Errichiello, Edoardo.
Afiliación
  • Lecca M; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
  • Pehlivan D; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA.
  • Suñer DH; Molecular Diagnostics and Clinical Genetics Unit, Hospital Universitari Son Espases, Palma, Illes Balears, Spain; Genomics of Health, Institute of Health Research of the Balearic Islands, Palma, Illes Balears, Spain.
  • Weiss K; Genetics Institute, Rambam Health Care Campus, Haifa, Israel; The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.
  • Coste T; AP-HP, Service de Génétique Moléculaire Neurovasculaire, Hôpital Saint-Louis, Paris, France; Université de Paris, INSERM UMR-1141 Neurodiderot, Paris, France.
  • Zweier M; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.
  • Oktay Y; Izmir Biomedicine and Genome Center, Dokuz Eylul University Health Campus, Izmir 35340, Turkey; Izmir International Biomedicine and Genome Institute, Dokuz Eylul University, Izmir 35340, Turkey; Department of Medical Biology, School of Medicine, Dokuz Eylul University, Izmir 35340, Turkey.
  • Danial-Farran N; The Genetic Institute, Emek Medical Center, Afula, Israel.
  • Rosti V; Center for the Study of Myelofibrosis, Laboratory of Biochemistry, Biotechnology and Advanced Diagnosis, IRCCS Policlinico San Matteo Foundation, Pavia, Italy.
  • Bonasoni MP; Pathology Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
  • Malara A; Department of Molecular Medicine, University of Pavia, Pavia, Italy; Laboratory of Biochemistry-Biotechnology and Advanced Diagnostics, IRCCS Policlinico San Matteo Foundation, Pavia, Italy.
  • Contrò G; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
  • Zuntini R; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
  • Pollazzon M; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
  • Pascarella R; Neuroradiology Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
  • Neri A; Ophthalmology Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
  • Fusco C; Child Neurology and Psychiatry Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
  • Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Department of Pediatrics, Faculty of Medicine, Kuwait University, P.O. Box 24923, Safat 13110, Kuwait.
  • Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Bayramoglu SE; Tertiary ROP Center, Health Science University Kanuni Sultan Suleyman Training and Research Hospital, Istanbul 34303, Turkey.
  • Gezdirici A; Department of Medical Genetics, Basaksehir Cam and Sakura City Hospital, Istanbul 34480, Turkey.
  • Hernandez-Rodriguez J; Genomics of Health, Institute of Health Research of the Balearic Islands, Palma, Illes Balears, Spain.
  • Cladera EA; Genomics of Health, Institute of Health Research of the Balearic Islands, Palma, Illes Balears, Spain.
  • Miravet E; Metabolic Pathologies and Pediatric Neurology Unit, Pediatric Service, Hospital Universitari Son Espases, Palma, Illes Balears, Spain.
  • Roldan-Busto J; Pediatric Radiology Unit, Radiology Service, Hospital Universitari Son Espases, Palma, Illes Balears, Spain.
  • Ruiz MA; Metabolic Pathologies and Pediatric Neurology Unit, Pediatric Service, Hospital Universitari Son Espases, Palma, Illes Balears, Spain.
  • Bauzá CV; Neurobiology, Institute of Health Research of the Balearic Islands, Palma, Illes Balears, Spain.
  • Ben-Sira L; Department of Radiology, Division of Pediatric Radiology, Dana Children's Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv University, Tel Aviv, Israel; Sackler School of Medicine, Tel Aviv University, Tel-Aviv, Israel.
  • Sigaudy S; AP-HM, Service de Génétique, Hôpital de la Timone, Marseille, France.
  • Begemann A; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.
  • Unger S; Medical Genetics Service, CHUV, University of Lausanne, Lausanne, Switzerland.
  • Güngör S; Inonu University, Faculty of Medicine, Turgut Ozal Research Center, Department of Pediatric Neurology, Malatya, Turkey.
  • Hiz S; Izmir International Biomedicine and Genome Institute, Dokuz Eylul University, Izmir 35340, Turkey; Department of Pediatric Neurology, School of Medicine, Dokuz Eylul University, Izmir 35340, Turkey.
  • Sonmezler E; Izmir Biomedicine and Genome Center, Dokuz Eylul University Health Campus, Izmir 35340, Turkey; Izmir International Biomedicine and Genome Institute, Dokuz Eylul University, Izmir 35340, Turkey.
  • Zehavi Y; The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel; Department of Pediatrics B, Emek Medical Center, Afula, Israel.
  • Jerdev M; Poriya Medical Center and the Azrieli Faculty of Medicine, Bar-Ilan University, Ramat-Gan, Israel.
  • Balduini A; Department of Molecular Medicine, University of Pavia, Pavia, Italy; Department of Biomedical Engineering, Tufts University, Medford, MA, USA.
  • Zuffardi O; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
  • Horvath R; Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge CB2 0PY, UK; Department of Clinical Neurosciences, John Van Geest Centre for Brain Repair, School of Clinical Medicine, University of Cambridge, Cambridge CB2 0PY, UK.
  • Lochmüller H; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada; Brain and Mind Research Institute, University of Ottawa, Ottawa ON K1H 8L1, Canada; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, ON K1H 8L1, Canada.
  • Rauch A; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland; University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.
  • Garavelli L; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
  • Tournier-Lasserve E; AP-HP, Service de Génétique Moléculaire Neurovasculaire, Hôpital Saint-Louis, Paris, France; Université de Paris, INSERM UMR-1141 Neurodiderot, Paris, France.
  • Spiegel R; The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel; Department of Pediatrics B, Emek Medical Center, Afula, Israel.
  • Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
  • Errichiello E; Department of Molecular Medicine, University of Pavia, Pavia, Italy; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy. Electronic address: edoardo.errichiello@unipv.it.
Am J Hum Genet ; 110(4): 681-690, 2023 04 06.
Article en En | MEDLINE | ID: mdl-36996813
Asunto(s)
Palabras clave
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Encefalopatías / Moléculas de Adhesión Celular / Trastornos del Neurodesarrollo / Malformaciones del Sistema Nervioso Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Animals / Humans Idioma: En Revista: Am J Hum Genet Año: 2023 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Encefalopatías / Moléculas de Adhesión Celular / Trastornos del Neurodesarrollo / Malformaciones del Sistema Nervioso Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Animals / Humans Idioma: En Revista: Am J Hum Genet Año: 2023 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Estados Unidos