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Deep phenotyping of patients with Tuberous Sclerosis Complex and no mutation identified in TSC1 and TSC2.
Peron, Angela; Vignoli, Aglaia; Briola, Francesca La; Morenghi, Emanuela; Tansini, Lucia; Alfano, Rosa Maria; Bulfamante, Gaetano; Terraneo, Silvia; Ghelma, Filippo; Banderali, Giuseppe; Viskochil, David H; Carey, John C; Canevini, Maria Paola.
Afiliação
  • Peron A; Child Neuropsychiatry Unit - Epilepsy Center, San Paolo Hospital, Milan, Italy; Department of Health Sciences, Università degli Studi di Milano, Milan, Italy; Department of Pediatrics, Division of Medical Genetics, University of Utah School of Medicine, Salt Lake City, UT, USA. Electronic address: a
  • Vignoli A; Child Neuropsychiatry Unit - Epilepsy Center, San Paolo Hospital, Milan, Italy; Department of Health Sciences, Università degli Studi di Milano, Milan, Italy.
  • Briola F; Child Neuropsychiatry Unit - Epilepsy Center, San Paolo Hospital, Milan, Italy.
  • Morenghi E; Biostatistics Unit, Humanitas Clinical and Research Center, Milan, Italy; Department of Biomedical Sciences, Humanitas University, Milan, Italy.
  • Tansini L; Child Neuropsychiatry Unit - Epilepsy Center, San Paolo Hospital, Milan, Italy.
  • Alfano RM; Human Pathology and Molecular Pathology Unit, San Paolo Hospital, Milan, Italy.
  • Bulfamante G; Department of Health Sciences, Università degli Studi di Milano, Milan, Italy; Human Pathology and Molecular Pathology Unit, San Paolo Hospital, Milan, Italy.
  • Terraneo S; Department of Health Sciences, Università degli Studi di Milano, Milan, Italy; Respiratory Unit, San Paolo Hospital, Milan, Italy.
  • Ghelma F; Department of Health Sciences, Università degli Studi di Milano, Milan, Italy; DAMA (Disabled Advanced Medical Assistance), San Paolo Hospital, Milan, Italy.
  • Banderali G; Department of Health Sciences, Università degli Studi di Milano, Milan, Italy; Pediatrics Unit, San Paolo Hospital, Milan, Italy.
  • Viskochil DH; Department of Pediatrics, Division of Medical Genetics, University of Utah School of Medicine, Salt Lake City, UT, USA.
  • Carey JC; Department of Pediatrics, Division of Medical Genetics, University of Utah School of Medicine, Salt Lake City, UT, USA.
  • Canevini MP; Child Neuropsychiatry Unit - Epilepsy Center, San Paolo Hospital, Milan, Italy; Department of Health Sciences, Università degli Studi di Milano, Milan, Italy.
Eur J Med Genet ; 61(7): 403-410, 2018 Jul.
Article em En | MEDLINE | ID: mdl-29432982
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Esclerose Tuberosa / Proteínas Supressoras de Tumor Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Esclerose Tuberosa / Proteínas Supressoras de Tumor Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Ano de publicação: 2018 Tipo de documento: Article