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Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies.
Dworschak, Gabriel C; Punetha, Jaya; Kalanithy, Jeshurun C; Mingardo, Enrico; Erdem, Haktan B; Akdemir, Zeynep C; Karaca, Ender; Mitani, Tadahiro; Marafi, Dana; Fatih, Jawid M; Jhangiani, Shalini N; Hunter, Jill V; Dakal, Tikam Chand; Dhabhai, Bhanupriya; Dabbagh, Omar; Alsaif, Hessa S; Alkuraya, Fowzan S; Maroofian, Reza; Houlden, Henry; Efthymiou, Stephanie; Dominik, Natalia; Salpietro, Vincenzo; Sultan, Tipu; Haider, Shahzad; Bibi, Farah; Thiele, Holger; Hoefele, Julia; Riedhammer, Korbinian M; Wagner, Matias; Guella, Ilaria; Demos, Michelle; Keren, Boris; Buratti, Julien; Charles, Perrine; Nava, Caroline; Héron, Delphine; Heide, Solveig; Valkanas, Elise; Waddell, Leigh B; Jones, Kristi J; Oates, Emily C; Cooper, Sandra T; MacArthur, Daniel; Syrbe, Steffen; Ziegler, Andreas; Platzer, Konrad; Okur, Volkan; Chung, Wendy K; O'Shea, Sarah A; Alcalay, Roy.
Afiliação
  • Dworschak GC; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany. gabriel.dworschak@uni-bonn.de.
  • Punetha J; Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, Bonn, Germany. gabriel.dworschak@uni-bonn.de.
  • Kalanithy JC; Department of Pediatrics, University Hospital Bonn, Bonn, Germany. gabriel.dworschak@uni-bonn.de.
  • Mingardo E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Erdem HB; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Akdemir ZC; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany.
  • Karaca E; Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, Bonn, Germany.
  • Mitani T; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany.
  • Marafi D; Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, Bonn, Germany.
  • Fatih JM; Department of Medical Genetics, University of Health Sciences, Diskapi Yildirim Beyazit Training and Research Hospital, Ankara, Turkey.
  • Jhangiani SN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Hunter JV; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.
  • Dakal TC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Dhabhai B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Dabbagh O; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Alsaif HS; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
  • Alkuraya FS; Department of Radiology, Baylor College of Medicine, Houston, TX, USA.
  • Maroofian R; Genome and Computational Biology Lab, Department of Biotechnology, Mohanlal Sukhadia University, Udaipur, Rajasthan, India.
  • Houlden H; Genome and Computational Biology Lab, Department of Biotechnology, Mohanlal Sukhadia University, Udaipur, Rajasthan, India.
  • Efthymiou S; Department of Neuroscience, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Dominik N; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
  • Salpietro V; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
  • Sultan T; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
  • Haider S; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.
  • Bibi F; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.
  • Thiele H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.
  • Hoefele J; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.
  • Riedhammer KM; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.
  • Wagner M; Department of Pediatric Neurology, Institute of Child Health, The Children's Hospital Lahore, Lahore, Pakistan.
  • Guella I; Department of Paediatric Medicine, Wah Medical College, Rawalpindi, Pakistan.
  • Demos M; University Institute of Biochemistry & Biotechnology, PMAS - Arid Agriculture University, Rawalpindi, Pakistan.
  • Keren B; Cologne Center for Genomics, University of Cologne, Cologne, Germany.
  • Buratti J; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.
  • Charles P; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.
  • Nava C; Department of Nephrology, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.
  • Héron D; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.
  • Heide S; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
  • Valkanas E; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany.
  • Waddell LB; Department of Medical Genetics, Centre for Applied Neurogenetics, University of British Columbia, Vancouver, BC, Canada.
  • Jones KJ; Division of Neurology, Department of Pediatrics, University of British Columbia and BC Children's Hospital, Vancouver, BC, Canada.
  • Oates EC; AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique, Paris, France.
  • Cooper ST; AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique, Paris, France.
  • MacArthur D; AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique, Paris, France.
  • Syrbe S; AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique, Paris, France.
  • Ziegler A; Institut du Cerveau et de la Moelle épinière, Sorbonne Université, UMR S 1127, Inserm U1127, CNRS UMR 7225, Paris, France.
  • Platzer K; AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique, Paris, France.
  • Okur V; AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique, Paris, France.
  • Chung WK; Center for Mendelian Genomics, The Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA, USA.
  • O'Shea SA; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Sydney, NSW, Australia.
  • Alcalay R; Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NSW, Australia.
Genet Med ; 23(9): 1715-1725, 2021 09.
Article em En | MEDLINE | ID: mdl-34054129
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades do Olho / Transtornos do Neurodesenvolvimento Tipo de estudo: Prognostic_studies Limite: Animals / Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades do Olho / Transtornos do Neurodesenvolvimento Tipo de estudo: Prognostic_studies Limite: Animals / Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article