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Comprehensive molecular screening strategy of OCLN in band-like calcification with simplified gyration and polymicrogyria.
Jenkinson, E M; Livingston, J H; O'Driscoll, M C; Desguerre, I; Nabbout, R; Boddaert, N; Soares, G; Gonçalves da Rocha, M; D'Arrigo, S; Rice, G I; Crow, Y J.
Affiliation
  • Jenkinson EM; Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, Manchester, UK.
  • Livingston JH; Department of Paediatric Neurology, Leeds Teaching Hospitals NHS Trust, Leeds, UK.
  • O'Driscoll MC; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's Hospital NHS Foundation Trust, Birmingham, UK.
  • Desguerre I; Department of Paediatric Neurology, Paris Descartes University, Sorbonne-Paris-Cité, Hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.
  • Nabbout R; Department of Paediatric Neurology, Paris Descartes University, Sorbonne-Paris-Cité, Hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.
  • Boddaert N; Department of Pediatric Radiology, Hôpital Necker Enfants Malades, AP-HP, PRES Sorbonne Paris Cité, INSERM U1000 and UMR 1163, Institut Imagine, University René Descartes, Paris, France.
  • Soares G; Medical Genetics, Porto Hospital Center, Porto, Portugal.
  • Gonçalves da Rocha M; Centro Genética Médica, Porto, Portugal.
  • D'Arrigo S; Medical Genetics Unit, Hospital de Braga, Braga, Portugal.
  • Rice GI; Development Neurology Department, Fondazione IRCCS Istituto Neurologico "C. Besta,", Milan, Italy.
  • Crow YJ; Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, Manchester, UK.
Clin Genet ; 93(2): 228-234, 2018 02.
Article in En | MEDLINE | ID: mdl-28386946
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Calcinosis / Malformations of Cortical Development / Occludin / Polymicrogyria Type of study: Diagnostic_studies / Screening_studies Limits: Female / Humans / Infant / Male Language: En Journal: Clin Genet Year: 2018 Document type: Article
Fulltext
Print
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Calcinosis / Malformations of Cortical Development / Occludin / Polymicrogyria Type of study: Diagnostic_studies / Screening_studies Limits: Female / Humans / Infant / Male Language: En Journal: Clin Genet Year: 2018 Document type: Article