A novel frameshift TBX4 variant in a family with ischio-coxo-podo-patellar syndrome and variable severity.

Autor: Moresco G; Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, Milan, Italy., Rondinone O; Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, Milan, Italy., Mauri A; Research Laboratories Coordination Unit, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico, Milan, Italy.; Department of Biomedical and Clinical Sciences, Pediatric Clinical Research Center 'Romeo ed Enrica Invernizzi', University of Milan, Milan, Italy., Gorgoglione R; Medical Genetics, ASST Santi Paolo e Carlo, Milan, Italy., Graziani DMG; Medical Genetics, ASST Santi Paolo e Carlo, Milan, Italy.; Medical Genetics Laboratory, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Dziuback M; Orthopedics and Traumatology Unit, ASST Santi Paolo e Carlo, Milan, Italy., Miozzo MR; Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, Milan, Italy.; Medical Genetics, ASST Santi Paolo e Carlo, Milan, Italy., Sirchia SM; Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, Milan, Italy., Pietrogrande L; Orthopedics and Traumatology Unit, ASST Santi Paolo e Carlo, Milan, Italy.; Orthopedics and Traumatology, Department of Health Sciences, Università degli Studi di Milano, Milan, Italy., Peron A; Medical Genetics, ASST Santi Paolo e Carlo, Milan, Italy. angela.peron@unifi.it.; Division of Medical Genetics, Meyer Children's Hospital IRCCS, Florence, Italy. angela.peron@unifi.it.; Department of Experimental and Clinical Biomedical Sciences 'Mario Serio', Università degli Studi di Firenze, Florence, Italy. angela.peron@unifi.it., Fontana L; Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, Milan, Italy.; Medical Genetics, ASST Santi Paolo e Carlo, Milan, Italy.

Publikováno v: Genes & genomics [Genes Genomics] 2024 Oct 28. Date of Electronic Publication: 2024 Oct 28.

Non-invasive biomarkers for sperm retrieval in non-obstructive patients: a comprehensive review.

Autor: Fontana L; Medical Genetics Unit, Aziende Socio Sanitarie Territoriali (ASST) Santi Paolo e Carlo, Milan, Italy.; Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, Milan, Italy., Sirchia SM; Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, Milan, Italy., Pesenti C; Medical Genetics Unit, Aziende Socio Sanitarie Territoriali (ASST) Santi Paolo e Carlo, Milan, Italy., Colpi GM; Next Fertility Procrea, International Center for Assisted Reproductive Technology, Lugano, Switzerland., Miozzo MR; Medical Genetics Unit, Aziende Socio Sanitarie Territoriali (ASST) Santi Paolo e Carlo, Milan, Italy.; Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, Milan, Italy.

Publikováno v: Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2024 Apr 16; Vol. 15, pp. 1349000. Date of Electronic Publication: 2024 Apr 16 (Print Publication: 2024).

Pitfalls of whole exome sequencing in undefined clinical conditions with a suspected genetic etiology.

Autor: Moresco G; Research Laboratories Coordination Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Rondinone O; Medical Genetics Unit, Department of Health Sciences, Università Degli Studi Di Milano, Milan, Italy., Mauri A; Research Laboratories Coordination Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Costanza J; Research Laboratories Coordination Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Santaniello C; Research Laboratories Coordination Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Colapietro P; Department of Pathophysiology and Transplantation, Università Degli Studi Di Milano, Milan, Italy., Micaglio E; Department of Arrhythmia and Electrophysiology, IRCCS Policlinico San Donato, San Donato Milanese, Milan, Italy., Marfia G; Neurosurgery Unit, Laboratory of Experimental Neurosurgery and Cell Therapy, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy., Pesenti C; Medical Genetics Unit, ASST Santi Paolo E Carlo, Milan, Italy., Grilli F; Highly Intensive Pediatric Care Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Rinaldi B; Highly Intensive Pediatric Care Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Prada E; Highly Intensive Pediatric Care Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Scuvera G; Medical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Villa R; Medical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Bedeschi MF; Medical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Miozzo MR; Medical Genetics Unit, Department of Health Sciences, Università Degli Studi Di Milano, Milan, Italy. monica.miozzo@unimi.it.; Medical Genetics Unit, ASST Santi Paolo E Carlo, Milan, Italy. monica.miozzo@unimi.it., Milani D; Highly Intensive Pediatric Care Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Fontana L; Medical Genetics Unit, Department of Health Sciences, Università Degli Studi Di Milano, Milan, Italy.; Medical Genetics Unit, ASST Santi Paolo E Carlo, Milan, Italy.

Publikováno v: Genes & genomics [Genes Genomics] 2023 May; Vol. 45 (5), pp. 637-655. Date of Electronic Publication: 2022 Dec 01.

Mental health and the effects on methylation of stress-related genes in front-line versus other health care professionals during the second wave of COVID-19 pandemic: an Italian pilot study.

Autor: Tabano S; Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.; Laboratory of Medical Genetics, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Tassi L; University of Milan, Milan, Italy., Cannone MG; Laboratory of Medical Genetics, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Brescia G; Laboratory of Medical Genetics, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Gaudioso G; Laboratory of Medical Genetics, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Ferrara M; Laboratory of Medical Genetics, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Colapietro P; Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy., Fontana L; Department of Health Sciences, Milan, Italy., Miozzo MR; Department of Health Sciences, Milan, Italy.; Unit of Medical Genetics, ASST Santi Paolo e Carlo, Milan, Italy., Croci GA; Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.; Division of Pathology, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Seia M; Laboratory of Medical Genetics, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Piuma C; Department of Anesthesia and Emergency-Urgency, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Solbiati M; Department of Anesthesia and Emergency-Urgency, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.; Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy., Tobaldini E; Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy.; Department of Internal Medicine, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy., Ferrero S; Division of Pathology, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.; Department of Biomedical, Surgical and Dental Sciences, Milan, Italy., Montano N; Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy.; Department of Internal Medicine, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy., Costantino G; Department of Anesthesia and Emergency-Urgency, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.; Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy., Buoli M; Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy. massimiliano.buoli@unimi.it.; Department of Neurosciences and Mental Health, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via F. Sforza 35, 20122, Milan, Italy. massimiliano.buoli@unimi.it.

Publikováno v: European archives of psychiatry and clinical neuroscience [Eur Arch Psychiatry Clin Neurosci] 2023 Mar; Vol. 273 (2), pp. 347-356. Date of Electronic Publication: 2022 Aug 24.

COVID-19 mortality rates in the European Union, Switzerland, and the UK: effect of timeliness, lockdown rigidity, and population density.

Autor: Gerli AG; Department of Management Engineering, Tourbillon Tech srl, Padua, Italy., Centanni S; Respiratory Unit, ASST Santi Paolo e Carlo, San Paolo Hospital, Milan, Italy.; Department of Health Sciences, University of Milan, Milan, Italy., Miozzo MR; Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.; Maggiore Polyclinic Hospital, IRCCS Ca' Granda Foundation, Milan, Italy., Virchow JC; Department of Pneumology, Intensive Care Medicine, Center for Internal Medicine, Rostock Medical University, Rostock, Germany., Sotgiu G; Unit of Clinical Epidemiology and Medical Statistics, Department of Medical, Surgical, Experimental Sciences, University of Sassari, Sassari, Italy., Canonica GW; Allergy and Asthma Clinic, Humanitas University and Research Hospital IRCCS, Milan, Italy., Soriano JB; Service of Pneumology, Hospital Universitario de la Princesa, Madrid, Spain - jbsoriano2@gmail.com.; Centro de Investigación en Red da Enfermedades Respiratorias (CIBERES), Insituto de Salud Carlos III (ISCIII), Madrid, Spain.

Publikováno v: Minerva medica [Minerva Med] 2020 Aug; Vol. 111 (4), pp. 308-314. Date of Electronic Publication: 2020 Jun 02.