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Insertional translocation involving an additional nonchromothriptic chromosome in constitutional chromothripsis: Rule or exception?
Kurtas, Nehir Edibe; Xumerle, Luciano; Giussani, Ursula; Pansa, Alessandra; Cardarelli, Laura; Bertini, Veronica; Valetto, Angelo; Liehr, Thomas; Clara Bonaglia, Maria; Errichiello, Edoardo; Delledonne, Massimo; Zuffardi, Orsetta.
Afiliación
  • Kurtas NE; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
  • Xumerle L; Personal Genomics srl, Department of Biotechnologies, University of Verona, Verona, Italy.
  • Giussani U; Ospedale Papa Giovanni XXIII, Bergamo, Italy.
  • Pansa A; Ospedale Papa Giovanni XXIII, Bergamo, Italy.
  • Cardarelli L; Laboratorio Analisi CITOTEST. Sarmeola di Rubano, Padova, Italy.
  • Bertini V; Azienda Ospedaliero Universitaria Pisana, Pisa, Italy.
  • Valetto A; Azienda Ospedaliero Universitaria Pisana, Pisa, Italy.
  • Liehr T; Institute of Human Genetics, Jena University Hospital, Jena, Germany.
  • Clara Bonaglia M; Cytogenetics Laboratory, Scientific Institute, IRCCS Eugenio Medea, Lecco, Italy.
  • Errichiello E; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
  • Delledonne M; Personal Genomics srl, Department of Biotechnologies, University of Verona, Verona, Italy.
  • Zuffardi O; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
Mol Genet Genomic Med ; 7(2): e00496, 2019 02.
Article en En | MEDLINE | ID: mdl-30565424

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Cromotripsis / Discapacidad Intelectual Límite: Adolescent / Child / Female / Humans / Infant / Male Idioma: En Revista: Mol Genet Genomic Med Año: 2019 Tipo del documento: Article País de afiliación: Italia

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Cromotripsis / Discapacidad Intelectual Límite: Adolescent / Child / Female / Humans / Infant / Male Idioma: En Revista: Mol Genet Genomic Med Año: 2019 Tipo del documento: Article País de afiliación: Italia