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Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I.
Riva, Matteo; Martorana, Davide; Uliana, Vera; Caleffi, Edoardo; Boschi, Elena; Garavelli, Livia; Ponti, Giovanni; Sangiorgi, Luca; Graziano, Claudio; Bigoni, Stefania; Rocchetti, Luca Maria; Madeo, Simona; Soli, Fiorenza; Grosso, Enrico; Carli, Diana; Goldoni, Matteo; Pisani, Francesco; Percesepe, Antonio.
Afiliación
  • Riva M; Medical Genetics, Department of Medicine and Surgery, University of Parma, Parma, Italy.
  • Martorana D; University Hospital of Parma, Parma, Italy.
  • Uliana V; University Hospital of Parma, Parma, Italy.
  • Caleffi E; Plastic Surgery, University Hospital of Parma, Parma, Italy.
  • Boschi E; Plastic Surgery, University Hospital of Parma, Parma, Italy.
  • Garavelli L; Medical Genetics Unit, Azienda USL-IRCCS, Reggio Emilia, Italy.
  • Ponti G; Division of Clinical Pathology, University of Modena and Reggio Emilia, Modena, Italy.
  • Sangiorgi L; Medical Genetics and Skeletal Rare Diseases, Istituto Ortopedico Rizzoli, Bologna, Italy.
  • Graziano C; Medical Genetics, S. Orsola-Malpighi University Hospital, Bologna, Italy.
  • Bigoni S; Medical Genetics, Ferrara University Hospital, Ferrara, Italy.
  • Rocchetti LM; Medical Genetics, Maurizio Bufalini Hospital, Cesena, Italy.
  • Madeo S; Pediatrics, University Hospital of Modena, Italy.
  • Soli F; Medical Genetics, Santa Chiara Hospital, Trento, Italy.
  • Grosso E; Medical Genetics, Città della Salute e della Scienza University Hospital, Torino, Italy.
  • Carli D; Department of Public Health and Pediatric Sciences, University of Torino, Torino, Italy.
  • Goldoni M; Statistics, Department of Medicine and Surgery, University of Parma, Parma, Italy.
  • Pisani F; Children's Neuropsycological Services, Department of Medicine and Surgery, University of Parma, Parma, Italy.
  • Percesepe A; Medical Genetics, Department of Medicine and Surgery, University of Parma, Parma, Italy.
Genes Chromosomes Cancer ; 61(1): 10-21, 2022 01.
Article en En | MEDLINE | ID: mdl-34427956
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Genes de Neurofibromatosis 1 / Neurofibromatosis 1 / Neurofibromina 1 Tipo de estudio: Observational_studies / Risk_factors_studies Límite: Female / Humans / Male Idioma: En Revista: Genes Chromosomes Cancer Asunto de la revista: BIOLOGIA MOLECULAR / NEOPLASIAS Año: 2022 Tipo del documento: Article País de afiliación: Italia
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Genes de Neurofibromatosis 1 / Neurofibromatosis 1 / Neurofibromina 1 Tipo de estudio: Observational_studies / Risk_factors_studies Límite: Female / Humans / Male Idioma: En Revista: Genes Chromosomes Cancer Asunto de la revista: BIOLOGIA MOLECULAR / NEOPLASIAS Año: 2022 Tipo del documento: Article País de afiliación: Italia