Hanefeld variant of Rett syndrome and CDKL5 gene: clinical and autonomic description of 7 cases (Contributo in atti di convegno)

Type

• Prodotto della ricerca (Classe)
• Contributo in atti di convegno (Classe)

Label

• Hanefeld variant of Rett syndrome and CDKL5 gene: clinical and autonomic description of 7 cases (Contributo in atti di convegno) (literal)

Anno

• 2009-01-01T00:00:00+01:00 (literal)

Alternative label

• Pini G.; Bigoni S.; Calabrese O.; Felloni B.; Scysa M. F.; Di Marco P.; Oo Julu P.; Engerstrom I. W.; Hansen S.; Apartopoulos F.; Engerstrom B.; Delamont R. S.; Smeets E. E.; Curfs L.; Romanelli A.; Bianchi F.; Ariani F.; Zappella M. (2009)
  Hanefeld variant of Rett syndrome and CDKL5 gene: clinical and autonomic description of 7 cases
  in 1st European Congress on Rett Syndrome. From research to treatment: new perspectives in Rett Syndrome, Milano
  (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

• Pini G.; Bigoni S.; Calabrese O.; Felloni B.; Scysa M. F.; Di Marco P.; Oo Julu P.; Engerstrom I. W.; Hansen S.; Apartopoulos F.; Engerstrom B.; Delamont R. S.; Smeets E. E.; Curfs L.; Romanelli A.; Bianchi F.; Ariani F.; Zappella M. (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#note

• In: 1st European Congress on Rett Syndrome. From research to treatment: new perspectives in Rett Syndrome (Milano, 5-7 giugno 2009). Proceedings, Associazione Italiana Rett e Rett Syndrome Europe (eds.). 2009. (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#descrizioneSinteticaDelProdotto

• ABSTRACT: Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting almost exclusively females. Among clinical variants of Rett syndrome, the Hanefeld variant, or early-onset seizure variant, has been associated with mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene. Our sample consisted of 7 subjects with clinical diagnosis of Hanefeld variant of Rett syndrome. The results of the autonomic nervous system assessment showed a specific cardiorespiratory phenotype in all CDKL5 positive girls. (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni

• Rett Center of the Tuscany - Versilia Hospital - Lido di Camaiore, Italy, Medical Genetic Section - University Hospital of Ferrara, Italy, Wingate Institute of Neurogastroenterology, Queen Mary School of Medicine and Dentistry, Whitechapel, London, UK, Swedish rett Centre, Ostersund, Sweden, Institute of Neurological Sciences, South Glasgow uUniversity Hospitals, Glasgow, UK, Department of Clinical Neurosciences, Institute of Psychiatry, King's College London, London, UK, Academic Hospital, Maastricht, Department of Clinical Genetics, Academic Hospital Maastricht, Maastricht, The Netherlands, CNR-IFC, Pisa, Medical Genetics, Univerity of Siena (literal)

Titolo

• Hanefeld variant of Rett syndrome and CDKL5 gene: clinical and autonomic description of 7 cases (literal)

Prodotto di

• Epidemiologia ambientale e registri di patologia (ME.P07.016.001) (Modulo)
• Istituto di fisiologia clinica (IFC) (Istituto)

Autore CNR

• ANNA MARIA ROMANELLI (Unità di personale interno)
• FABRIZIO BIANCHI (Unità di personale interno)

Insieme di parole chiave

• Keywords of "Hanefeld variant of Rett syndrome and CDKL5 gene: clinical and autonomic description of 7 cases" (Insieme di parole chiave)

Incoming links:

Autore CNR di

• FABRIZIO BIANCHI (Unità di personale interno)
• ANNA MARIA ROMANELLI (Unità di personale interno)

Prodotto

• Istituto di fisiologia clinica (IFC) (Istituto)
• Epidemiologia ambientale e registri di patologia (ME.P07.016.001) (Modulo)

Insieme di parole chiave di

• Keywords of "Hanefeld variant of Rett syndrome and CDKL5 gene: clinical and autonomic description of 7 cases" (Insieme di parole chiave)