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Variant Rett syndrome in a girl with a pericentric X-chromosome inversion leading to epigenetic changes and overexpression of the MECP2 gene.
Vieira, José Pedro; Lopes, Fátima; Silva-Fernandes, Anabela; Sousa, Maria Vânia; Moura, Sofia; Sousa, Susana; Costa, Bruno M; Barbosa, Mafalda; Ylstra, Bauke; Temudo, Teresa; Lourenço, Teresa; Maciel, Patrícia.
Affiliation
  • Vieira JP; Neurology Department, Hospital Dona Estefânia, Centro Hospitalar de Lisboa Central, Portugal.
  • Lopes F; Life and Health Sciences Research Institute (ICVS), School of Health Sciences, University of Minho, Braga, Portugal; ICVS/3B's - PT Government Associate Laboratory, Braga/Guimarães, Portugal.
  • Silva-Fernandes A; Life and Health Sciences Research Institute (ICVS), School of Health Sciences, University of Minho, Braga, Portugal; ICVS/3B's - PT Government Associate Laboratory, Braga/Guimarães, Portugal.
  • Sousa MV; Neurology Department, Hospital Dona Estefânia, Centro Hospitalar de Lisboa Central, Portugal.
  • Moura S; Life and Health Sciences Research Institute (ICVS), School of Health Sciences, University of Minho, Braga, Portugal; ICVS/3B's - PT Government Associate Laboratory, Braga/Guimarães, Portugal.
  • Sousa S; Life and Health Sciences Research Institute (ICVS), School of Health Sciences, University of Minho, Braga, Portugal; ICVS/3B's - PT Government Associate Laboratory, Braga/Guimarães, Portugal.
  • Costa BM; Life and Health Sciences Research Institute (ICVS), School of Health Sciences, University of Minho, Braga, Portugal; ICVS/3B's - PT Government Associate Laboratory, Braga/Guimarães, Portugal.
  • Barbosa M; Department of Genetics and Genomic Sciences, The Mindich Child Health & Development Institute, The Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, NY, USA; Instituto Gulbenkian de Ciência, Oeiras, Portugal.
  • Ylstra B; Department of Pathology, VU University Medical Center, Amsterdam, The Netherlands.
  • Temudo T; Neuropediatrics Department, Centro Hospitalar do Porto, Portugal.
  • Lourenço T; Neurology Department, Hospital Dona Estefânia, Centro Hospitalar de Lisboa Central, Portugal.
  • Maciel P; Life and Health Sciences Research Institute (ICVS), School of Health Sciences, University of Minho, Braga, Portugal; ICVS/3B's - PT Government Associate Laboratory, Braga/Guimarães, Portugal. Electronic address: pmaciel@ecsaude.uminho.pt.
Int J Dev Neurosci ; 46: 82-7, 2015 Nov.
Article in En | MEDLINE | ID: mdl-26287660
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Rett Syndrome / Chromosomes, Human, X / Methyl-CpG-Binding Protein 2 / Chromosome Inversion Limits: Child / Female / Humans Language: En Journal: Int J Dev Neurosci Year: 2015 Document type: Article Affiliation country: Portugal
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Rett Syndrome / Chromosomes, Human, X / Methyl-CpG-Binding Protein 2 / Chromosome Inversion Limits: Child / Female / Humans Language: En Journal: Int J Dev Neurosci Year: 2015 Document type: Article Affiliation country: Portugal