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Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants.
Mussa, Alessandro; Leoni, Chiara; Iacoviello, Matteo; Carli, Diana; Ranieri, Carlotta; Pantaleo, Antonino; Buonuomo, Paola Sabrina; Bagnulo, Rosanna; Ferrero, Giovanni Battista; Bartuli, Andrea; Melis, Daniela; Maitz, Silvia; Loconte, Daria Carmela; Turchiano, Antonella; Piglionica, Marilidia; De Luisi, Annunziata; Susca, Francesco Claudio; Bukvic, Nenad; Forleo, Cinzia; Selicorni, Angelo; Zampino, Giuseppe; Onesimo, Roberta; Cappuccio, Gerarda; Garavelli, Livia; Novelli, Chiara; Memo, Luigi; Morando, Carla; Della Monica, Matteo; Accadia, Maria; Capurso, Martina; Piscopo, Carmelo; Cereda, Anna; Di Giacomo, Marilena Carmela; Saletti, Veronica; Spinelli, Alessandro Mauro; Lastella, Patrizia; Tenconi, Romano; Dvorakova, Veronika; Irvine, Alan D; Resta, Nicoletta.
Affiliation
  • Mussa A; Department of Public Health and Pediatric Sciences, Università degli Studi di Torino, Torino, Italy.
  • Leoni C; Pediatric Clinical Genetics, Regina Margherita Children's Hospital, Hospital, Città della Salute e della Scienza di Torino, Torino, Italy.
  • Iacoviello M; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma, Italy.
  • Carli D; Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari "Aldo Moro", Bari, Italy.
  • Ranieri C; Department of Public Health and Pediatric Sciences, Università degli Studi di Torino, Torino, Italy.
  • Pantaleo A; Pediatric Onco-Hematology, Stem Cell Transplantation and Cell Therapy Division, Regina Margherita Children's Hospital, Città Della Salute e Della Scienza di Torino, Torino, Italy.
  • Buonuomo PS; Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari "Aldo Moro", Bari, Italy.
  • Bagnulo R; Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari "Aldo Moro", Bari, Italy.
  • Ferrero GB; Rare Diseases and Medical Genetics Unit, Bambino Gesù Children's Hospital IRCCS, Roma, Italy.
  • Bartuli A; Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari "Aldo Moro", Bari, Italy.
  • Melis D; Department of Clinical and Biological Sciences, Università degli Studi di Torino, Torino, Italy.
  • Maitz S; Rare Diseases and Medical Genetics Unit, Bambino Gesù Children's Hospital IRCCS, Roma, Italy.
  • Loconte DC; Department of Medicine, Surgery and Dentistry "Scuola Medica Salernitana", University of Salerno, Fisciano, Italy.
  • Turchiano A; Clinical Pediatric Genetics Unit, MBBM Foundation, San Gerardo Hospital, Monza, Italy.
  • Piglionica M; Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari "Aldo Moro", Bari, Italy.
  • De Luisi A; Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari "Aldo Moro", Bari, Italy.
  • Susca FC; Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari "Aldo Moro", Bari, Italy.
  • Bukvic N; Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari "Aldo Moro", Bari, Italy.
  • Forleo C; Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari "Aldo Moro", Bari, Italy.
  • Selicorni A; Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari "Aldo Moro", Bari, Italy.
  • Zampino G; Cardiology Unit, Department of Emergency and Organ Transplantation, Università degli Studi di Bari "Aldo Moro", Bari, Italy.
  • Onesimo R; Pediatric Department, ASST Lariana, Monza, Italy.
  • Cappuccio G; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma, Italy.
  • Garavelli L; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma, Italy.
  • Novelli C; Department of Translational Medicine, Federico II University Hospital, Napoli, Italy.
  • Memo L; Medical Genetics Unit, Mother and Child Health Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
  • Morando C; Department of Clinical Sciences and Community Health, Università degli Studi di Milano, Milano, Italy.
  • Della Monica M; Department of Pediatrics, Neonatal Intensive Care Unit, San Bortolo Hospital of Vicenza, Vicenza, Italy.
  • Accadia M; Department of Pediatrics, Neonatal Intensive Care Unit, San Bortolo Hospital of Vicenza, Vicenza, Italy.
  • Capurso M; Medical Genetics Unit, Cardarelli Hospital, Napoli, Italy, Italy.
  • Piscopo C; Medical Genetics Unit, Hospital "Cardinale G. Panico", Tricase, Italy.
  • Cereda A; Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari "Aldo Moro", Bari, Italy.
  • Di Giacomo MC; Medical Genetics Unit, Cardarelli Hospital, Napoli, Italy, Italy.
  • Saletti V; Pediatric Department, ASST Papa Giovanni XXIII, Bergamo, Italy.
  • Spinelli AM; Unit of Pathology and Medical Genetics, AOR Ospedale "San Carlo", Potenza, Italy.
  • Lastella P; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.
  • Tenconi R; Regional Coordinating Center for Rare Diseases, University Hospital, Udine, Italy, Italy.
  • Dvorakova V; Centro Sovraziendale di Assistenza e Ricerca per le Malattie Rare, Internal Medicine Unit 'C. Frugoni', Ospedale Consorziale Policlinico di Bari, Bari, Italy.
  • Irvine AD; Department of Pediatrics, Clinical Genetics, Universita degli Studi di Padova, Padova, Italy.
  • Resta N; Dermatology Clinic, Our Lady's Children's Hospital Crumlin, Dublin, Ireland.
J Med Genet ; 60(2): 163-173, 2023 02.
Article in En | MEDLINE | ID: mdl-35256403
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Vascular Malformations Type of study: Systematic_reviews Limits: Humans Language: En Journal: J Med Genet Year: 2023 Document type: Article Affiliation country: Italia Country of publication: Reino Unido
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Vascular Malformations Type of study: Systematic_reviews Limits: Humans Language: En Journal: J Med Genet Year: 2023 Document type: Article Affiliation country: Italia Country of publication: Reino Unido