Germline pathogenic variants of cancer predisposition genes in a multicentre Italian cohort of pancreatic cancer patients.

Autor: Orsi G; Department of Medical Oncology, Pancreas Translational and Clinical Research Center, IRCCS San Raffaele Scientific Institute, Milan, Italy; Vita-Salute San Raffaele University, Milan, Italy., Carconi C; Department of Medical Oncology, Pancreas Translational and Clinical Research Center, IRCCS San Raffaele Scientific Institute, Milan, Italy; Vita-Salute San Raffaele University, Milan, Italy., Ghiorzo P; Department of Internal Medicine and Medical Specialties (DiMI), University of Genoa, Genoa, Italy; Genetics of Rare Cancers, IRCCS Ospedale Policlinico San Martino, Genoa, Italy., Carrera P; Unit of Genomics for Human Disease Diagnosis, Laboratory of Clinical Genomics, IRCCS San Raffaele Scientific Institute, Milan, Italy; Laboratory of Clinical Molecular Genetics, IRCCS San Raffaele Scientific Institute, Milan, Italy., Pastorino L; Department of Internal Medicine and Medical Specialties (DiMI), University of Genoa, Genoa, Italy; Genetics of Rare Cancers, IRCCS Ospedale Policlinico San Martino, Genoa, Italy., Presi S; Unit of Genomics for Human Disease Diagnosis, Laboratory of Clinical Genomics, IRCCS San Raffaele Scientific Institute, Milan, Italy; Laboratory of Clinical Molecular Genetics, IRCCS San Raffaele Scientific Institute, Milan, Italy., Chiaravalli M; Oncologia medica, Comprehensive Cancer Center, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Università Cattolica del Sacro Cuore, Rome, Italy., Barbieri E; SS Genetica Oncologica, SC Oncologia Medica, AOU Policlinico, Modena, Italy., Giordano G; Unit of Medical Oncology and Biomolecular Therapy, Policlinico Ospedaliero-Universitario, Foggia, Italy; Department of Medical and Surgical Sciences, University of Foggia, Foggia, Italy., Sciallero S; Medical Oncology Unit 1, IRCCS Ospedale Policlinico San Martino, Genoa, Italy., Puccini A; Medical Oncology and Hematology Unit, IRCCS Humanitas Research Hospital, Rozzano, MI, Italy., Salvatore L; Oncologia medica, Comprehensive Cancer Center, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Università Cattolica del Sacro Cuore, Rome, Italy., Cortesi L; SS Genetica Oncologica, SC Oncologia Medica, AOU Policlinico, Modena, Italy., Macchini M; Department of Medical Oncology, Pancreas Translational and Clinical Research Center, IRCCS San Raffaele Scientific Institute, Milan, Italy; Vita-Salute San Raffaele University, Milan, Italy., Natalicchio MI; SSVD Biologia Molecolare Oncologica-PMMP, Genetica Oncologica e Farmacogenetica, Ambulatorio Tumori Eredo-Familiari, Policlinico Ospedaliero-Universitario, Foggia, Italy., Allavena E; Department of Internal Medicine and Medical Specialties (DiMI), University of Genoa, Genoa, Italy; Genetics of Rare Cancers, IRCCS Ospedale Policlinico San Martino, Genoa, Italy., Pirrone C; Department of Internal Medicine and Medical Specialties (DiMI), University of Genoa, Genoa, Italy; Medical Oncology Unit 1, IRCCS Ospedale Policlinico San Martino, Genoa, Italy., Archibugi L; Pancreato-Biliary Endoscopy and Endosonography Division, Pancreas Translational & Clinical Research Center, IRCCS San Raffaele Scientific Institute, Milan, Italy., Dalmasso B; Genetics of Rare Cancers, IRCCS Ospedale Policlinico San Martino, Genoa, Italy., Bruno W; Department of Internal Medicine and Medical Specialties (DiMI), University of Genoa, Genoa, Italy; Genetics of Rare Cancers, IRCCS Ospedale Policlinico San Martino, Genoa, Italy., Tortora G; Oncologia medica, Comprehensive Cancer Center, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Università Cattolica del Sacro Cuore, Rome, Italy., Landriscina M; Unit of Medical Oncology and Biomolecular Therapy, Policlinico Ospedaliero-Universitario, Foggia, Italy; Department of Medical and Surgical Sciences, University of Foggia, Foggia, Italy., Capurso G; Pancreato-Biliary Endoscopy and Endosonography Division, Pancreas Translational & Clinical Research Center, IRCCS San Raffaele Scientific Institute, Milan, Italy; Vita-Salute San Raffaele University, Milan, Italy., Cascinu S; Department of Medical Oncology, Pancreas Translational and Clinical Research Center, IRCCS San Raffaele Scientific Institute, Milan, Italy; Vita-Salute San Raffaele University, Milan, Italy., Falconi M; Pancreatic and Transplant Surgery Unit, Pancreas Translational and Clinical Research Center, IRCCS San Raffaele Scientific Institute, Milan, Italy; Vita-Salute San Raffaele University, Milan, Italy., Reni M; Department of Medical Oncology, Pancreas Translational and Clinical Research Center, IRCCS San Raffaele Scientific Institute, Milan, Italy; Vita-Salute San Raffaele University, Milan, Italy. Electronic address: reni.michele@hsr.it.

Publikováno v: European journal of cancer (Oxford, England : 1990) [Eur J Cancer] 2024 Sep; Vol. 208, pp. 114226. Date of Electronic Publication: 2024 Jul 16.

Unravelling Novel SCN5A Mutations Linked to Brugada Syndrome: Functional, Structural, and Genetic Insights.

Autor: Frosio A; Institute of Molecular and Translational Cardiology (IMTC), IRCCS Policlinico San Donato, 20097 San Donato Milanese, Italy., Micaglio E; Institute of Molecular and Translational Cardiology (IMTC), IRCCS Policlinico San Donato, 20097 San Donato Milanese, Italy.; Arrhythmia and Electrophysiology Department, IRCCS Policlinico San Donato, 20097 San Donato Milanese, Italy., Polsinelli I; Institute of Molecular and Translational Cardiology (IMTC), IRCCS Policlinico San Donato, 20097 San Donato Milanese, Italy., Calamaio S; Institute of Molecular and Translational Cardiology (IMTC), IRCCS Policlinico San Donato, 20097 San Donato Milanese, Italy., Melgari D; Institute of Molecular and Translational Cardiology (IMTC), IRCCS Policlinico San Donato, 20097 San Donato Milanese, Italy., Prevostini R; Institute of Molecular and Translational Cardiology (IMTC), IRCCS Policlinico San Donato, 20097 San Donato Milanese, Italy., Ghiroldi A; Institute of Molecular and Translational Cardiology (IMTC), IRCCS Policlinico San Donato, 20097 San Donato Milanese, Italy.; Laboratory of Stem Cells for Tissue Engineering, IRCCS Policlinico San Donato, 20097 San Donato Milanese, Italy., Binda A; School of Medicine and Surgery, University of Milano-Bicocca, Via Cadore, 48, 20900 Monza, Italy., Carrera P; Laboratory of Clinical Molecular Genetics and Cytogenetics, Unit of Genomics for Diagnosis of Human Diseases, IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy., Villa M; Institute of Molecular and Translational Cardiology (IMTC), IRCCS Policlinico San Donato, 20097 San Donato Milanese, Italy., Mastrocinque F; Arrhythmia and Electrophysiology Department, IRCCS Policlinico San Donato, 20097 San Donato Milanese, Italy., Presi S; Laboratory of Clinical Molecular Genetics and Cytogenetics, Unit of Genomics for Diagnosis of Human Diseases, IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy., Salerno R; Faculty of Medicine and Surgery, Vita-Salute San Raffaele University, Via Olgettina, 58, 20132 Milan, Italy., Boccellino A; Arrhythmia and Electrophysiology Department, IRCCS Policlinico San Donato, 20097 San Donato Milanese, Italy., Anastasia L; Institute of Molecular and Translational Cardiology (IMTC), IRCCS Policlinico San Donato, 20097 San Donato Milanese, Italy.; Laboratory of Stem Cells for Tissue Engineering, IRCCS Policlinico San Donato, 20097 San Donato Milanese, Italy.; Faculty of Medicine and Surgery, Vita-Salute San Raffaele University, Via Olgettina, 58, 20132 Milan, Italy., Ciconte G; Institute of Molecular and Translational Cardiology (IMTC), IRCCS Policlinico San Donato, 20097 San Donato Milanese, Italy.; Arrhythmia and Electrophysiology Department, IRCCS Policlinico San Donato, 20097 San Donato Milanese, Italy.; Faculty of Medicine and Surgery, Vita-Salute San Raffaele University, Via Olgettina, 58, 20132 Milan, Italy., Ricagno S; Institute of Molecular and Translational Cardiology (IMTC), IRCCS Policlinico San Donato, 20097 San Donato Milanese, Italy.; Department of Biosciences, Università degli Studi di Milano, Via Celoria, 26, 20133 Milan, Italy., Pappone C; Institute of Molecular and Translational Cardiology (IMTC), IRCCS Policlinico San Donato, 20097 San Donato Milanese, Italy.; Arrhythmia and Electrophysiology Department, IRCCS Policlinico San Donato, 20097 San Donato Milanese, Italy.; Faculty of Medicine and Surgery, Vita-Salute San Raffaele University, Via Olgettina, 58, 20132 Milan, Italy., Rivolta I; Institute of Molecular and Translational Cardiology (IMTC), IRCCS Policlinico San Donato, 20097 San Donato Milanese, Italy.; School of Medicine and Surgery, University of Milano-Bicocca, Via Cadore, 48, 20900 Monza, Italy.

Publikováno v: International journal of molecular sciences [Int J Mol Sci] 2023 Oct 11; Vol. 24 (20). Date of Electronic Publication: 2023 Oct 11.

Genetic surfactant dysfunction in newborn infants and children with acute and chronic lung disease

Autor: Somaschini, M, Presi, S, Ferrari, M, Vergani, B, Carrera, P

Publikováno v: Journal of Pediatric and Neonatal Individualized Medicine, Vol 6, Iss 1, Pp e060134-e060134 (2017)

Mutations in genes encoding surfactant protein B (SP-B), ATP-binding cassette transporter A3 (ABCA3) and surfactant protein C (SP-C) can result in neonatal and pediatric lung disease. We retrospectively reviewed 391 molecular analyses of genes encodi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::e920df5cfa114104b97e0c9d73f00f0a
http://www.jpnim.com/index.php/jpnim/article/download/060134/425

Integration of multigene panels for the diagnosis of hereditary retinal disorders using Next Generation Sequencing and bioinformatics approaches.

Autor: Di Resta C; Vita-Salute San Raffaele University, Milan, Italy.; Unit of Genomics for Human Disease Diagnosis, Division of Genetics and Cell Biology, IRCCS San Raffaele Scientific Institute, Milan, Italy., Spiga I; Clinical Molecular Biology Laboratory, IRCCS San Raffaele Hospital, Milan, Italy., Presi S; Clinical Molecular Biology Laboratory, IRCCS San Raffaele Hospital, Milan, Italy., Merella S; Clinical Molecular Biology Laboratory, IRCCS San Raffaele Hospital, Milan, Italy., Pipitone GB; Clinical Molecular Biology Laboratory, IRCCS San Raffaele Hospital, Milan, Italy., Manitto MP; Department of Ophthalmology, IRCCS San Raffaele Scientific Institute, Milan, Italy., Querques G; Medical Retina & Imaging Unit, Department of Ophthalmology IRCCS San Raffaele Hospital, Vita-Salute San Raffaele University, Milan, Italy., Parodi MB; Department of Ophthalmology, Vita-Salute San Raffaele University, Milan, Italy., Ferrari M; Vita-Salute San Raffaele University, Milan, Italy.; Unit of Genomics for Human Disease Diagnosis, Division of Genetics and Cell Biology, IRCCS San Raffaele Scientific Institute, Milan, Italy.; Clinical Molecular Biology Laboratory, IRCCS San Raffaele Hospital, Milan, Italy., Carrera P; Unit of Genomics for Human Disease Diagnosis, Division of Genetics and Cell Biology, IRCCS San Raffaele Scientific Institute, Milan, Italy.; Clinical Molecular Biology Laboratory, IRCCS San Raffaele Hospital, Milan, Italy.

Publikováno v: EJIFCC [EJIFCC] 2018 Apr 30; Vol. 29 (1), pp. 15-25. Date of Electronic Publication: 2018 Apr 30 (Print Publication: 2018).

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