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Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome).
Kurtas, Nehir; Arrigoni, Filippo; Errichiello, Edoardo; Zucca, Claudio; Maghini, Cristina; D'Angelo, Maria Grazia; Beri, Silvana; Giorda, Roberto; Bertuzzo, Sara; Delledonne, Massimo; Xumerle, Luciano; Rossato, Marzia; Zuffardi, Orsetta; Bonaglia, Maria Clara.
Afiliação
  • Kurtas N; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
  • Arrigoni F; Neuroimaging Laboratory, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Italy.
  • Errichiello E; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
  • Zucca C; Clinical Neurophysiology Unit, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Italy.
  • Maghini C; Neuromuscular Disorders Unit, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Italy.
  • D'Angelo MG; Neuromuscular Disorders Unit, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Italy.
  • Beri S; Molecular Biology Laboratory, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Italy.
  • Giorda R; Molecular Biology Laboratory, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Italy.
  • Bertuzzo S; Cytogenetics Laboratory, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Italy.
  • Delledonne M; Department of Biotechnology, University of Verona, Verona, Italy.
  • Xumerle L; Department of Biotechnology, University of Verona, Verona, Italy.
  • Rossato M; Department of Biotechnology, University of Verona, Verona, Italy.
  • Zuffardi O; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
  • Bonaglia MC; Cytogenetics Laboratory, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Italy.
J Med Genet ; 55(4): 269-277, 2018 04.
Article em En | MEDLINE | ID: mdl-29378768
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Translocação Genética / Transtornos Cromossômicos / Cromotripsia Limite: Child, preschool / Female / Humans / Infant / Pregnancy Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Translocação Genética / Transtornos Cromossômicos / Cromotripsia Limite: Child, preschool / Female / Humans / Infant / Pregnancy Idioma: En Ano de publicação: 2018 Tipo de documento: Article