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.

Autor: Mussa A; Department of Public Health and Pediatric Sciences, Università degli Studi di Torino, Torino, Italy.; Pediatric Clinical Genetics, Regina Margherita Children's Hospital, Hospital, Città della Salute e della Scienza di Torino, Torino, Italy., Leoni C; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma, Italy., Iacoviello M; Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari 'Aldo Moro', Bari, Italy., Carli D; Department of Public Health and Pediatric Sciences, Università degli Studi di Torino, Torino, Italy.; 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., Ranieri C; Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari 'Aldo Moro', Bari, Italy., Pantaleo A; Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari 'Aldo Moro', Bari, Italy., Buonuomo PS; Rare Diseases and Medical Genetics Unit, Bambino Gesù Children's Hospital IRCCS, Roma, Italy., Bagnulo R; Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari 'Aldo Moro', Bari, Italy., Ferrero GB; Department of Clinical and Biological Sciences, Università degli Studi di Torino, Torino, Italy., Bartuli A; Rare Diseases and Medical Genetics Unit, Bambino Gesù Children's Hospital IRCCS, Roma, Italy., Melis D; Department of Medicine, Surgery and Dentistry 'Scuola Medica Salernitana', University of Salerno, Fisciano, Italy., Maitz S; Clinical Pediatric Genetics Unit, MBBM Foundation, San Gerardo Hospital, Monza, Italy., Loconte DC; Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari 'Aldo Moro', Bari, Italy., Turchiano A; Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari 'Aldo Moro', Bari, 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; Cardiology Unit, Department of Emergency and Organ Transplantation, Università degli Studi di Bari 'Aldo Moro', Bari, Italy., Selicorni A; Pediatric Department, ASST Lariana, Monza, Italy., Zampino 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., Onesimo R; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma, Italy., Cappuccio G; Department of Translational Medicine, Federico II University Hospital, Napoli, Italy., Garavelli L; Medical Genetics Unit, Mother and Child Health Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy., Novelli C; Department of Clinical Sciences and Community Health, Università degli Studi di Milano, Milano, Italy., Memo L; Department of Pediatrics, Neonatal Intensive Care Unit, San Bortolo Hospital of Vicenza, Vicenza, Italy., Morando C; Department of Pediatrics, Neonatal Intensive Care Unit, San Bortolo Hospital of Vicenza, Vicenza, Italy., Della Monica M; Medical Genetics Unit, Cardarelli Hospital, Napoli, Italy, Italy., Accadia M; Medical Genetics Unit, Hospital 'Cardinale G. Panico', Tricase, Italy., Capurso M; Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari 'Aldo Moro', Bari, Italy., Piscopo C; Medical Genetics Unit, Cardarelli Hospital, Napoli, Italy, Italy., Cereda A; Pediatric Department, ASST Papa Giovanni XXIII, Bergamo, Italy., Di Giacomo MC; Unit of Pathology and Medical Genetics, AOR Ospedale 'San Carlo', Potenza, Italy., Saletti V; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy., Spinelli AM; Regional Coordinating Center for Rare Diseases, University Hospital, Udine, Italy, Italy., Lastella P; Centro Sovraziendale di Assistenza e Ricerca per le Malattie Rare, Internal Medicine Unit 'C. Frugoni', Ospedale Consorziale Policlinico di Bari, Bari, Italy., Tenconi R; Department of Pediatrics, Clinical Genetics, Universita degli Studi di Padova, Padova, Italy., Dvorakova V; Dermatology Clinic, Our Lady's Children's Hospital Crumlin, Dublin, Ireland., Irvine AD; Dermatology Clinic, Our Lady's Children's Hospital Crumlin, Dublin, Ireland., Resta N; Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari 'Aldo Moro', Bari, Italy nicoletta.resta@uniba.it.

Publikováno v: Journal of medical genetics [J Med Genet] 2023 Feb; Vol. 60 (2), pp. 163-173. Date of Electronic Publication: 2022 Mar 07.

Prenatal overgrowth and polydramnios: Would you think about Noonan syndrome?

Autor: Beltrami B; Medical Genetics Unit Fondazione IRCCS Ca'Granda Ospedale Maggiore Policlinico Milan Italy., Cerasani J; Neonatal Intensive Care Unit (NICU), Department of Clinical Science and Community Health Università degli Studi di Milano and Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy., Consales A; Neonatal Intensive Care Unit (NICU), Department of Clinical Science and Community Health Università degli Studi di Milano and Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy., Villa R; Medical Genetics Unit Fondazione IRCCS Ca'Granda Ospedale Maggiore Policlinico Milan Italy., Resta N; Department of Biomedical Sciences and Human Oncology (DIMO), Medical Genetics University of Bari 'Aldo Moro' Bari Italy., Loconte DC; Department of Biomedical Sciences and Human Oncology (DIMO), Medical Genetics University of Bari 'Aldo Moro' Bari Italy., Boito S; Fetal Medicine and Surgery Service Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy., Caschera L; Neuroradiology Unit Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy., Bassi L; Neonatal Intensive Care Unit (NICU), Department of Clinical Science and Community Health Università degli Studi di Milano and Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy., Colombo L; Neonatal Intensive Care Unit (NICU), Department of Clinical Science and Community Health Università degli Studi di Milano and Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy., Iascone M; Laboratory of Medical Genetics Ospedale Papa Giovanni XXIII Bergamo Italy., Bedeschi MF; Medical Genetics Unit Fondazione IRCCS Ca'Granda Ospedale Maggiore Policlinico Milan Italy.

Publikováno v: Clinical case reports [Clin Case Rep] 2022 Aug 22; Vol. 10 (8), pp. e6256. Date of Electronic Publication: 2022 Aug 22 (Print Publication: 2022).

Functional evidence of mTORβ splice variant involvement in the pathogenesis of congenital heart defects.

Autor: Gentile M; Department of Human Reproductive Medicine, Medical Genetics Unit, ASL Bari, Bari, Italy., Ranieri C; Department of Biomedical Sciences and Human Oncology (DIMO), Medical Genetics, University of Bari 'Aldo Moro', Bari, Italy., Loconte DC; Department of Biomedical Sciences and Human Oncology (DIMO), Medical Genetics, University of Bari 'Aldo Moro', Bari, Italy., Ponzi E; Department of Human Reproductive Medicine, Medical Genetics Unit, ASL Bari, Bari, Italy., Ficarella R; Department of Human Reproductive Medicine, Medical Genetics Unit, ASL Bari, Bari, Italy., Volpe P; Department of Human Reproductive Medicine, Fetal Medicine Unit, ASL Bari, Bari, Italy., Scalzo G; Department of Pediatric Sciences, Pediatric Cardiac Surgery Unit, Giovanni XXIII Pediatric Hospital, Bari, Italy., Lepore Signorile M; Medical Genetics, National Institute of Gastroenterology 'S. de Bellis' Research Hospital, Castellana Grotte, Bari, Italy., Grossi V; Medical Genetics, National Institute of Gastroenterology 'S. de Bellis' Research Hospital, Castellana Grotte, Bari, Italy., Cordella A; Genomix4Life SRL, Via S. Allende 84081, Baronissi, Italy., Ventola GM; Genomix4Life SRL, Via S. Allende 84081, Baronissi, Italy., Susca FC; Department of Human Reproductive Medicine, Medical Genetics Unit, ASL Bari, Bari, Italy., Turchiano A; Department of Biomedical Sciences and Human Oncology (DIMO), Medical Genetics, University of Bari 'Aldo Moro', Bari, Italy., Simone C; Department of Biomedical Sciences and Human Oncology (DIMO), Medical Genetics, University of Bari 'Aldo Moro', Bari, Italy.; Medical Genetics, National Institute of Gastroenterology 'S. de Bellis' Research Hospital, Castellana Grotte, Bari, Italy., Resta N; Department of Biomedical Sciences and Human Oncology (DIMO), Medical Genetics, University of Bari 'Aldo Moro', Bari, Italy.

Publikováno v: Clinical genetics [Clin Genet] 2021 Mar; Vol. 99 (3), pp. 425-429. Date of Electronic Publication: 2020 Nov 30.

In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS).

Autor: Ranieri C; Division of Medical Genetics, Department of Biomedical Sciences and Human Oncology (DIMO), University of Bari 'Aldo Moro', Piazza G. Cesare, 11, Bari, Italy., Di Tommaso S; Division of Medical Genetics, Department of Biomedical Sciences and Human Oncology (DIMO), University of Bari 'Aldo Moro', Piazza G. Cesare, 11, Bari, Italy., Loconte DC; Division of Medical Genetics, Department of Biomedical Sciences and Human Oncology (DIMO), University of Bari 'Aldo Moro', Piazza G. Cesare, 11, Bari, Italy., Grossi V; Division of Medical Genetics, Department of Biomedical Sciences and Human Oncology (DIMO), University of Bari 'Aldo Moro', Piazza G. Cesare, 11, Bari, Italy., Sanese P; Division of Medical Genetics, Department of Biomedical Sciences and Human Oncology (DIMO), University of Bari 'Aldo Moro', Piazza G. Cesare, 11, Bari, Italy., Bagnulo R; Division of Medical Genetics, Department of Biomedical Sciences and Human Oncology (DIMO), University of Bari 'Aldo Moro', Piazza G. Cesare, 11, Bari, Italy., Susca FC; Division of Medical Genetics, Department of Biomedical Sciences and Human Oncology (DIMO), University of Bari 'Aldo Moro', Piazza G. Cesare, 11, Bari, Italy., Forte G; Medical Genetics, National Institute for Gastroenterology, IRCCS 'S. de Bellis', Piazza G. Cesare, 11, Castellana Grotte, Bari, Italy., Peserico A; Division of Medical Genetics, Department of Biomedical Sciences and Human Oncology (DIMO), University of Bari 'Aldo Moro', Piazza G. Cesare, 11, Bari, Italy., De Luisi A; Division of Medical Genetics, Department of Biomedical Sciences and Human Oncology (DIMO), University of Bari 'Aldo Moro', Piazza G. Cesare, 11, Bari, Italy., Bartuli A; Unit of Rare Diseases and Medical Genetics, Bambino Gesù Children's Hospital, Rome, Italy., Selicorni A; Unit of Pediatrics, Presidio S. Fermo, ASST Lariana, Como, Italy., Melis D; Department of Translational Medical Science, Section of Pediatrics, University of Naples Federico II, Naples, Italy., Lerone M; Unit of Medical Genetics, Giannina Gaslini Institute, Genoa, Italy., Praticò AD; Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Via Santa Sofia, 78, 95124, Catania, Italy.; Maurice Wohl Clinical Neuroscience Institute, King's College London, London, UK., Abbadessa G; Clinical Development, Translational Research, Medical Affairs, ArQule, Inc., Burlington, MA, USA., Yu Y; Translational Research, ArQule, Inc., Burlington, MA, USA., Schwartz B; Clinical Development, Translational Research, Medical Affairs, ArQule, Inc., Burlington, MA, USA., Ruggieri M; Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Via Santa Sofia, 78, 95124, Catania, Italy. m.ruggieri@unict.it., Simone C; Division of Medical Genetics, Department of Biomedical Sciences and Human Oncology (DIMO), University of Bari 'Aldo Moro', Piazza G. Cesare, 11, Bari, Italy. cristiano.simone@uniba.it.; Medical Genetics, National Institute for Gastroenterology, IRCCS 'S. de Bellis', Piazza G. Cesare, 11, Castellana Grotte, Bari, Italy. cristiano.simone@uniba.it., Resta N; Division of Medical Genetics, Department of Biomedical Sciences and Human Oncology (DIMO), University of Bari 'Aldo Moro', Piazza G. Cesare, 11, Bari, Italy. nicoletta.resta@uniba.it.

Publikováno v: Neurogenetics [Neurogenetics] 2018 May; Vol. 19 (2), pp. 77-91. Date of Electronic Publication: 2018 Mar 16.

Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 Inhibitors.

Autor: Loconte DC; Division of Medical Genetics, Department of Biomedical Sciences and Human Oncology (DIMO), University of Bari 'Aldo Moro', Bari, Italy., Grossi V; Division of Medical Genetics, Department of Biomedical Sciences and Human Oncology (DIMO), University of Bari 'Aldo Moro', Bari, Italy; National Cancer Institute, IRCCS Oncologico Giovanni Paolo II, Bari, Italy., Bozzao C; Department of Clinical and Molecular Medicine, 'Sapienza' University of Rome, Rome, Italy., Forte G; Cancer Genetics Laboratory, IRCCS 'S. de Bellis', Castellana Grotte, Italy., Bagnulo R; Division of Medical Genetics, Department of Biomedical Sciences and Human Oncology (DIMO), University of Bari 'Aldo Moro', Bari, Italy., Stella A; Division of Medical Genetics, Department of Biomedical Sciences and Human Oncology (DIMO), University of Bari 'Aldo Moro', Bari, Italy., Lastella P; Center for Rare Diseases-Internal Medicine 'C. Frugoni', University Hospital of Bari, Bari, Italy., Cutrone M; US Dermatologia Pediatrica, Ospedale dell'Angelo Ulss 12 Mestre, Venezia, Italy., Benedicenti F; Genetic Counseling Service, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano, Italy., Susca FC; Division of Medical Genetics, Department of Biomedical Sciences and Human Oncology (DIMO), University of Bari 'Aldo Moro', Bari, Italy., Patruno M; Division of Medical Genetics, Department of Biomedical Sciences and Human Oncology (DIMO), University of Bari 'Aldo Moro', Bari, Italy., Varvara D; Division of Medical Genetics, Department of Biomedical Sciences and Human Oncology (DIMO), University of Bari 'Aldo Moro', Bari, Italy., Germani A; Division of Medical Genetics, Department of Biomedical Sciences and Human Oncology (DIMO), University of Bari 'Aldo Moro', Bari, Italy., Chessa L; Department of Clinical and Molecular Medicine, 'Sapienza' University of Rome, Rome, Italy., Laforgia N; Neonatology and NICU Section, Department of Biomedical Sciences and Human Oncology (DIMO), University of Bari 'Aldo Moro', Bari, Italy., Tenconi R; University of Padova, Padova, Italy., Simone C; Division of Medical Genetics, Department of Biomedical Sciences and Human Oncology (DIMO), University of Bari 'Aldo Moro', Bari, Italy; National Cancer Institute, IRCCS Oncologico Giovanni Paolo II, Bari, Italy., Resta N; Division of Medical Genetics, Department of Biomedical Sciences and Human Oncology (DIMO), University of Bari 'Aldo Moro', Bari, Italy.

Publikováno v: PloS one [PLoS One] 2015 Apr 27; Vol. 10 (4), pp. e0123092. Date of Electronic Publication: 2015 Apr 27 (Print Publication: 2015).