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Monosomy 1p36 - a multifaceted and still enigmatic syndrome: four clinically diverse cases with shared white matter abnormalities.
Õiglane-Shlik, Eve; Puusepp, Sanna; Talvik, Inga; Vaher, Ulvi; Rein, Reet; Tammur, Pille; Reimand, Tiia; Teek, Rita; Zilina, Olga; Tomberg, Tiiu; Õunap, Katrin.
Afiliación
  • Õiglane-Shlik E; Department of Pediatrics, Faculty of Medicine, University of Tartu, Tartu, Estonia; Children's Clinic, Tartu University Hospital, Tartu, Estonia. Electronic address: eve.oiglane-slik@kliinikum.ee.
  • Puusepp S; Faculty of Medicine, University of Tartu, Tartu, Estonia.
  • Talvik I; Department of Pediatrics, Faculty of Medicine, University of Tartu, Tartu, Estonia; Children's Clinic, Tartu University Hospital, Tartu, Estonia.
  • Vaher U; Children's Clinic, Tartu University Hospital, Tartu, Estonia.
  • Rein R; Children's Clinic, Tartu University Hospital, Tartu, Estonia.
  • Tammur P; Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.
  • Reimand T; Department of Pediatrics, Faculty of Medicine, University of Tartu, Tartu, Estonia; Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia; Department of Biomedicine, Institute of Biomedicine and Centre for Translational Medicine, University of Tartu, Tartu, Estonia.
  • Teek R; Department of Pediatrics, Faculty of Medicine, University of Tartu, Tartu, Estonia; Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.
  • Zilina O; Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia; Department of Biotechnology, Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia.
  • Tomberg T; Department of Neurology and Neurosurgery, Faculty of Medicine, University of Tartu, Tartu, Estonia.
  • Õunap K; Department of Pediatrics, Faculty of Medicine, University of Tartu, Tartu, Estonia; Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.
Eur J Paediatr Neurol ; 18(3): 338-46, 2014 May.
Article en En | MEDLINE | ID: mdl-24529875
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Cromosomas Humanos Par 1 / Discapacidades del Desarrollo / Deleción Cromosómica / Predisposición Genética a la Enfermedad / Sustancia Blanca / Monosomía Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Adult / Child, preschool / Female / Humans / Male Idioma: En Revista: Eur J Paediatr Neurol Asunto de la revista: NEUROLOGIA / PEDIATRIA Año: 2014 Tipo del documento: Article
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Cromosomas Humanos Par 1 / Discapacidades del Desarrollo / Deleción Cromosómica / Predisposición Genética a la Enfermedad / Sustancia Blanca / Monosomía Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Adult / Child, preschool / Female / Humans / Male Idioma: En Revista: Eur J Paediatr Neurol Asunto de la revista: NEUROLOGIA / PEDIATRIA Año: 2014 Tipo del documento: Article