Zobrazeno 1 - 10 of 49 pro vyhledávání: '"AM Nardone"'
2
Akademický článek
Chromatin conformation capture in the clinic: 4C-seq/HiC distinguishes pathogenic from neutral duplications at the GPR101 locus.
Autor: Daly AF; Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium., Dunnington LA; Department of Pediatrics, Division of Medical Genetics, McGovern Medical School, University of Texas Health Science Center (UTHealth Houston), Houston, TX, USA.; Memorial Hermann-Texas Medical Center, University of Texas Health Science Center at Houston, Houston, TX, USA., Rodriguez-Buritica DF; Department of Pediatrics, Division of Medical Genetics, McGovern Medical School, University of Texas Health Science Center (UTHealth Houston), Houston, TX, USA.; Memorial Hermann-Texas Medical Center, University of Texas Health Science Center at Houston, Houston, TX, USA., Spiegel E; Department of Obstetrics and Gynecology, Columbia University Irving Medical Center, New York, NY, 10032, USA., Brancati F; Department of Life, Health and Environmental Sciences, University of L'Aquila, Via Spennati N.1, L'Aquila, 67010, Italy.; Human Functional Genetics Laboratory, IRCCS San Raffaele Roma, Rome, Italy., Mantovani G; Endocrinology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.; Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy., Rawal VM; Austin Diagnostic Clinic, 2400 Cedar Bend Dr, Austin, TX, 78758, USA., Faucz FR; Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), Bethesda, MD, USA., Hijazi H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Caberg JH; Department of Human Genetics, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium., Nardone AM; Medical Genetics Laboratory, Policlinico Tor Vergata Hospital, Viale Oxford 81, Rome, 00133, Italy., Bengala M; Medical Genetics Laboratory, Policlinico Tor Vergata Hospital, Viale Oxford 81, Rome, 00133, Italy., Fortugno P; Human Functional Genetics Laboratory, IRCCS San Raffaele Roma, Rome, Italy.; Università Telematica San Raffaele, Rome, Italy., Del Sindaco G; Endocrinology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.; Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy., Ragonese M; Department of Human Pathology of Adulthood and Childhood DETEV, Endocrinology Unit, University of Messina, 98125, Messina, Italy., Gould H; Austin Maternal Fetal Medicine, 12200 Renfert Way Ste G3, Austin, TX, 78758, USA., Cannavò S; Department of Human Pathology of Adulthood and Childhood DETEV, Endocrinology Unit, University of Messina, 98125, Messina, Italy., Pétrossians P; Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium., Lania A; Department of Biomedical Sciences, Humanitas University, Via Rita Levi Montalcini 4, Pieve Emanuele, Milan, 20072, Italy.; IRCCS Humanitas Research Hospital, Milan, Italy., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA., Beckers A; Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium., Stratakis CA; Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), Bethesda, MD, USA.; Human Genetics and Precision Medicine, Institute of Molecular Biology and Biotechnology (IMBB), Foundation for Research and Technology Hellas, Heraklion, Greece.; ASTREA Health, Athens, Greece., Levy B; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY, USA., Trivellin G; Department of Biomedical Sciences, Humanitas University, Via Rita Levi Montalcini 4, Pieve Emanuele, Milan, 20072, Italy. giampaolo.trivellin@hunimed.eu.; IRCCS Humanitas Research Hospital, Milan, Italy. giampaolo.trivellin@hunimed.eu., Franke M; Andalusian Center for Developmental Biology (CABD), Junta de Andalucia - Universidad Pablo de Olavide (UPO) - Consejo Superior de Investigaciones Cientificas (CSIC), Seville, Spain. mfra2@upo.es.
Publikováno v: Genome medicine [Genome Med] 2024 Sep 13; Vol. 16 (1), pp. 112. Date of Electronic Publication: 2024 Sep 13.
Zobrazit plný text záznamu
3
Akademický článek
Prenatal identification of a pathogenic maternal FGFR1 variant in two consecutive pregnancies with fetal forebrain malformations.
Autor: Graziani L; Department of Biomedicine and Prevention, University of Rome 'Tor Vergata', Rome, Italy., Nuovo S; Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy., Pisaneschi E; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Carriero ML; Department of Biomedicine and Prevention, University of Rome 'Tor Vergata', Rome, Italy., Baghernajad Salehi L; Medical Genetics Unit, Tor Vergata University Hospital, Rome, Italy., Nardone AM; Medical Genetics Unit, Tor Vergata University Hospital, Rome, Italy., Manganaro L; Department of Radiological, Oncological and Pathological Sciences, Sapienza University of Rome, Viale Regina Elena, Rome, Italy., Novelli A; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., D'Apice MR; Department of Biomedicine and Prevention, University of Rome 'Tor Vergata', Rome, Italy., Mappa I; Department of Obstetrics and Gynecology, Tor Vergata University Hospital, Rome, Italy., Novelli G; Department of Biomedicine and Prevention, University of Rome 'Tor Vergata', Rome, Italy.; Medical Genetics Unit, Tor Vergata University Hospital, Rome, Italy.
Publikováno v: The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians [J Matern Fetal Neonatal Med] 2024 Dec; Vol. 37 (1), pp. 2344718. Date of Electronic Publication: 2024 Apr 28.
Zobrazit plný text záznamu
4
Report
Clinical and functional characterization of COL2A1 p.Gly444Ser variant: From a fetal phenotype to a previously undisclosed postnatal phenotype.
Autor: Marchionni E; Medical Genetics Unit, Policlinico Tor Vergata, University of Rome Tor Vergata, Rome, Italy., D'Apice MR; Medical Genetics Unit, Policlinico Tor Vergata, University of Rome Tor Vergata, Rome, Italy., Lupo V; Medical Genetics Unit, Policlinico Tor Vergata, University of Rome Tor Vergata, Rome, Italy.; Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome, Italy., Lattanzi G; CNR Institute of Molecular Genetics 'Luigi Luca Cavalli-Sforza' Unit of Bologna, Bologna, Italy.; Istituto Ortopedico Rizzoli, Bologna, Italy., Mattioli E; CNR Institute of Molecular Genetics 'Luigi Luca Cavalli-Sforza' Unit of Bologna, Bologna, Italy.; Istituto Ortopedico Rizzoli, Bologna, Italy., Lisignoli G; IRCCS Istituto Ortopedico Rizzoli, Laboratorio di Immunoreumatologia e Rigenerazione Tissutale Bologna, Italy., Gabusi E; IRCCS Istituto Ortopedico Rizzoli, Laboratorio di Immunoreumatologia e Rigenerazione Tissutale Bologna, Italy., Pepe G; Department of Biology, University of Rome Tor Vergata, Rome, Italy., Helmer Citterich M; Department of Biology, University of Rome Tor Vergata, Rome, Italy., Campione E; Dermatologic Unit, Department of Systems Medicine, University of Rome Tor Vergata, Rome, Italy., Nardone AM; Medical Genetics Unit, Policlinico Tor Vergata, University of Rome Tor Vergata, Rome, Italy., Spitalieri P; Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome, Italy., Pucci N; Diagnostic Imaging Unit, Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome, Italy., Cocciadiferro D; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Picchi E; Diagnostic Imaging Unit, Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome, Italy., Garaci F; Neuroradiology Unit, Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome, Italy., Novelli A; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Novelli G; Medical Genetics Unit, Policlinico Tor Vergata, University of Rome Tor Vergata, Rome, Italy.; Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome, Italy.
Publikováno v: Bone reports [Bone Rep] 2023 Nov 27; Vol. 19, pp. 101728. Date of Electronic Publication: 2023 Nov 27 (Print Publication: 2023).
Zobrazit plný text záznamu
5
Akademický článek
Positive predictive values and outcomes for uninformative cell-free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study).
Autor: Grati FR; R&D, Cytogenetics, Molecular Genetics and Medical Genetics Unit, TOMA Advanced Biomedical Assays S.p.A, Busto Arsizio, Italy., Bestetti I; Laboratorio di Genetica Medica, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy.; Department of Medical Biotechnology and Translational Medicine, Università degli Studi di Milano, Milan, Italy., De Siero D; R&D, Cytogenetics, Molecular Genetics and Medical Genetics Unit, TOMA Advanced Biomedical Assays S.p.A, Busto Arsizio, Italy., Malvestiti F; R&D, Cytogenetics, Molecular Genetics and Medical Genetics Unit, TOMA Advanced Biomedical Assays S.p.A, Busto Arsizio, Italy., Villa N; UOS Citogenetica e Genetica Medica - ASST-Monza, Ospedale San Gerardo, Università di Milano-Bicocca, Monza, Italy., Sala E; UOS Citogenetica e Genetica Medica - ASST-Monza, Ospedale San Gerardo, Università di Milano-Bicocca, Monza, Italy., Crosti F; UOS Citogenetica e Genetica Medica - ASST-Monza, Ospedale San Gerardo, Università di Milano-Bicocca, Monza, Italy., Parisi V; U.O.C. Laboratorio di Genetica Medica, Ospedale Pediatrico del Bambino Gesù, IRCCS, Roma, Italy., Nardone AM; U.O.C. Laboratorio di Genetica Medica, Policlinico Tor Vergata, Roma, Italy., Di Giacomo G; UOSD di Genetica Medica Ospedale, San Pietro Fatebenefratelli, Roma, Italy., Pettinari A; SOSD Malattie Rare e Citogenetica, Azienda Ospedaliero-Universitaria Ospedali Riuniti, Ancona, Italy., Tortora G; SOSD Malattie Rare e Citogenetica, Azienda Ospedaliero-Universitaria Ospedali Riuniti, Ancona, Italy., Montaldi A; U.O.S. Laboratorio di Genetica, AULSS8 Berica, Vicenza, Italy., Calò A; U.O.S. Laboratorio di Genetica, AULSS8 Berica, Vicenza, Italy., Saccilotto D; U.O.S. Laboratorio di Genetica, AULSS8 Berica, Vicenza, Italy., Zanchetti S; U.O.S. Laboratorio di Genetica, AULSS8 Berica, Vicenza, Italy., Celli P; U.O.S. Laboratorio di Genetica, AULSS8 Berica, Vicenza, Italy., Guerneri S; Laboratorio di Genetica Medica, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy., Silipigni R; Laboratorio di Genetica Medica, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy., Cardarelli L; Laboratorio di Genetica medica, Lifebrain, Gruppo Cerba HealthCare, c/o RDI, Rete Diagnostica Italiana, Limena, Italy., Lippi E; Laboratorio di Genetica medica, Lifebrain, Gruppo Cerba HealthCare, c/o RDI, Rete Diagnostica Italiana, Limena, Italy., Cavani S; U.O.C. Laboratorio di Genetica Umana, IRCCS G. Gaslini, Genova, Italy., Malacarne M; U.O.C. Laboratorio di Genetica Umana, IRCCS G. Gaslini, Genova, Italy., Genesio R; DAI medicina di laboratorio e trasfusionale AOU Federico II, Napoli, Italy., Beltrami N; L. C. Laboratori Campisi srl, Avola, Italy., Pittalis MC; IRCCS Azienda Ospedaliero Universitaria di Bologna, Policlinico di Sant'Orsola, Bologna, Italy., Desiderio L; IRCCS Azienda Ospedaliero Universitaria di Bologna, Policlinico di Sant'Orsola, Bologna, Italy., Gentile M; Dipartimento di Medicina della Riproduzione, UOC Genetica Medica, ASL BARI, Bari, Italy., Ficarella R; Dipartimento di Medicina della Riproduzione, UOC Genetica Medica, ASL BARI, Bari, Italy., Recalcati MP; Laboratorio di Citogenetica e Genetica Molecolare, Istituto Auxologico Italiano, IRCCS, Milano, Italy., Catusi I; Laboratorio di Citogenetica e Genetica Molecolare, Istituto Auxologico Italiano, IRCCS, Milano, Italy., Garzo M; Laboratorio di Citogenetica e Genetica Molecolare, Istituto Auxologico Italiano, IRCCS, Milano, Italy., Miele L; Unilabs Ticino, Breganzona, Italy., Corti C; Unilabs Ticino, Breganzona, Italy., Ghezzo S; Laboratorio di Citogenetica - U.O.C. Genetica Medica, Centro Servizi Pievesestina - Laboratorio Unico, AUSL ROMAGNA, Cesena, Italy., Bertini V; SOD Citogenetica, Azienda Ospedaliero Universitaria Pisana (AOUP), Pisa, Italy., Cambi F; SOD Citogenetica, Azienda Ospedaliero Universitaria Pisana (AOUP), Pisa, Italy., Valetto A; SOD Citogenetica, Azienda Ospedaliero Universitaria Pisana (AOUP), Pisa, Italy., Facchinetti B; UOSD SMeL 4 Citogenetica e Genetica Medica, ASST Papa Giovanni XXIII, Bergamo, Italy., Bernardini L; Medical Genetics Division, IRCCS Casa Sollievo della Sofferenza Foundation, San Giovanni Rotondo, Italy., Capalbo A; Medical Genetics Division, IRCCS Casa Sollievo della Sofferenza Foundation, San Giovanni Rotondo, Italy., Balducci F; TECNOBIOS PRENATALE EUROGENLAB - Gruppo LIFE BRAIN Emilia-Romagna, Bologna, Italy., Pelo E; SOD Diagnostica Genetica AOU, Careggi, UK., Minuti B; SOD Diagnostica Genetica AOU, Careggi, UK., Pescucci C; SOD Diagnostica Genetica AOU, Careggi, UK., Giuliani C; SOD Diagnostica Genetica AOU, Careggi, UK., Renieri A; Medical Genetics, University of Siena, Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy.; Genetica Medica, Azienda Ospedaliero-Universitaria Senese, Siena, Italy., Longo I; Genetica Medica, Azienda Ospedaliero-Universitaria Senese, Siena, Italy., Tita R; Genetica Medica, Azienda Ospedaliero-Universitaria Senese, Siena, Italy., Castello G; Genetica Medica, Azienda Ospedaliero-Universitaria Senese, Siena, Italy., Casalone R; SSD SMeL Citogenetica e Genetica Medica, ASST dei Settelaghi, Varese, Italy., Righi R; SSD SMeL Citogenetica e Genetica Medica, ASST dei Settelaghi, Varese, Italy., Raso B; ASL ROMA 1, Centro S.Anna, Dipartimento dei Laboratori, U.O.S.D. di Genetica medica, Roma, Italy., Civolani A; ASL ROMA 1, Centro S.Anna, Dipartimento dei Laboratori, U.O.S.D. di Genetica medica, Roma, Italy., Muzi MC; ASL ROMA 1, Centro S.Anna, Dipartimento dei Laboratori, U.O.S.D. di Genetica medica, Roma, Italy., di Natale M; ASL ROMA 1, Centro S.Anna, Dipartimento dei Laboratori, U.O.S.D. di Genetica medica, Roma, Italy., Varriale L; UOSD Diagnostica Alta Complessità, Settore Genetica, Azienda Ospedaliera Ospedali Riuniti Marche Nord-Pesaro, Nord-Pesaro, Italy., Gasperini D; Laboratorio Genetica e Genomica, Ospedale Microcitemico A.Cao, ARNAS Brotzu Cagliari, Cagliari, Italy., Nuzzi MC; UOC Patologia Clinica - Sezione di Genetica Medica, Ospedale SS. Annunziata Taranto - ASL TARANTO, Taranto, Italy., Cellamare A; UOC Patologia Clinica - Sezione di Genetica Medica, Ospedale SS. Annunziata Taranto - ASL TARANTO, Taranto, Italy., Casieri P; UOC Patologia Clinica - Sezione di Genetica Medica, Ospedale SS. Annunziata Taranto - ASL TARANTO, Taranto, Italy., Busuito R; Laboratorio di Genetica Molecolare e Citogenetica - Sezione di Citogenetica, UOC Laboratorio Analisi - ASST Ovest Milanese, Legnano, Italy., Ceccarini C; U.O.C Genetica Medica, Policlinico Riuniti Foggia, Foggia, Italy., Cesarano C; U.O.C Genetica Medica, Policlinico Riuniti Foggia, Foggia, Italy., Privitera O; SOS Genetica e Diagnostica di Laboratorio, Azienda USL Toscana Centro, Presidio Ospedale S. Stefano, Prato, Italy., Melani D; SOS Genetica e Diagnostica di Laboratorio, Azienda USL Toscana Centro, Presidio Ospedale S. Stefano, Prato, Italy., Menozzi C; SSD Genetica Medica, Dipartimento Materno Infantile, AOU Policlinico Modena, Modena, Italy., Falcinelli C; SSD Genetica Medica, Dipartimento Materno Infantile, AOU Policlinico Modena, Modena, Italy., Calabrese O; SSD Genetica Medica, Dipartimento Materno Infantile, AOU Policlinico Modena, Modena, Italy., Battaglia P; Laboratorio di Genetica, UOC Genetica Medica, AUSL Imola, Imola, Italy., Tanzariello A; Laboratorio di Genetica, UOC Genetica Medica, AUSL Imola, Imola, Italy., Stampalija T; Unit of Fetal Medicine and Prenatal Diagnosis, Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.; Department of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, Italy., Ardisia C; Genetica Medica IRCCS Ospedale 'Burlo Garofolo', Trieste, Italy., Gasparini P; Genetica Medica IRCCS Ospedale 'Burlo Garofolo', Trieste, Italy., Benn P; Department of Obstetrics and Gynecology, University of Connecticut Health Center, Farmington, Connecticut, USA., Novelli A; U.O.C. Laboratorio di Genetica Medica, Ospedale Pediatrico del Bambino Gesù, IRCCS, Roma, Italy.
Publikováno v: Prenatal diagnosis [Prenat Diagn] 2022 Dec; Vol. 42 (13), pp. 1575-1586. Date of Electronic Publication: 2022 Nov 30.
Zobrazit plný text záznamu
6
Akademický článek
Retinoic acid-induced 1 gene haploinsufficiency alters lipid metabolism and causes autophagy defects in Smith-Magenis syndrome.
Autor: Turco EM; Cellular Reprogramming Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013, San Giovanni Rotondo, FG, Italy., Giovenale AMG; Cellular Reprogramming Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013, San Giovanni Rotondo, FG, Italy.; Department of Biotechnology and Biosciences, University of Milano-Bicocca, Piazza della Scienza 2, 20126, Milano, Italy., Sireno L; Cellular Reprogramming Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013, San Giovanni Rotondo, FG, Italy.; Veneto Institute of Molecular Medicine (VIMM), via Orus 2, 35129, Padova, Italy., Mazzoni M; Cellular Reprogramming Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013, San Giovanni Rotondo, FG, Italy., Cammareri A; Cellular Reprogramming Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013, San Giovanni Rotondo, FG, Italy., Marchioretti C; Veneto Institute of Molecular Medicine (VIMM), via Orus 2, 35129, Padova, Italy.; Department of Biomedical Sciences, University of Padova, via Ugo Bassi 58/B, 35131, Padova, Italy., Goracci L; Department of Chemistry, Biology, and Biotechnology, University of Perugia, Via Elce di Sotto 8, 06123, Perugia, Italy., Di Veroli A; Department of Chemistry, Biology, and Biotechnology, University of Perugia, Via Elce di Sotto 8, 06123, Perugia, Italy., Marchesan E; Department of Biology, University of Padova, Via U. Bassi 58/b, 35121, Padova, Italy., D'Andrea D; Interdisciplinary Biomedical Research Centre, School of Science and Technology, Nottingham Trent University, Clifton, NG11 8NS, UK., Falconieri A; Department of Biomedical Sciences, University of Padova, via Ugo Bassi 58/B, 35131, Padova, Italy., Torres B; Medical Genetics Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013, San Giovanni Rotondo, Italy., Bernardini L; Medical Genetics Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013, San Giovanni Rotondo, Italy., Magnifico MC; Department of Biochemical Sciences, 'A. Rossi Fanelli', University of Rome 'La Sapienza', P.le Aldo Moro 5, 00185, Rome, Italy., Paone A; Department of Biochemical Sciences, 'A. Rossi Fanelli', University of Rome 'La Sapienza', P.le Aldo Moro 5, 00185, Rome, Italy., Rinaldo S; Department of Biochemical Sciences, 'A. Rossi Fanelli', University of Rome 'La Sapienza', P.le Aldo Moro 5, 00185, Rome, Italy., Della Monica M; UOC Genetica Medica e di Laboratorio, AORN 'A. Cardarelli', Via Antonio Cardarelli 9, 80131, Napoli, Italy., D'Arrigo S; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Giovanni Celoria, 11, 20133, Milano, Italy., Postorivo D; Medical Genetics Laboratory, 'Policlinico Tor Vergata' Hospital, Viale Oxford 81, 00133, Rome, Italy., Nardone AM; Medical Genetics Laboratory, 'Policlinico Tor Vergata' Hospital, Viale Oxford 81, 00133, Rome, Italy., Zampino G; Rare Diseases and Birth Defects Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Largo Agostino Gemelli 8, 00168, Rome, Italy.; Dipartimento di Scienze della Vita e Sanità Pubblica, Università Cattolica del S. Cuore, Largo Francesco Vito, 1, 00168, Rome, Italy., Onesimo R; Rare Diseases and Birth Defects Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Largo Agostino Gemelli 8, 00168, Rome, Italy.; Dipartimento di Scienze della Vita e Sanità Pubblica, Università Cattolica del S. Cuore, Largo Francesco Vito, 1, 00168, Rome, Italy., Leoni C; Dipartimento di Scienze della Vita e Sanità Pubblica, Università Cattolica del S. Cuore, Largo Francesco Vito, 1, 00168, Rome, Italy., Caicci F; Department of Biology, DiBio Imaging Facility, University of Padova, Via U. Bassi 58/b, 35121, Padova, Italy., Raimondo D; Department of Molecular Medicine, University of Rome 'La Sapienza', Viale Regina Elena 324, 00161, Rome, Italy., Binda E; Unit of Cancer and Stem Cells, Fondazione IRCCS Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013, San Giovanni Rotondo, FG, Italy., Trobiani L; Department of Biology and Biotechnology 'Charles Darwin', University of Rome 'La Sapienza', P.le Aldo Moro 5, 00185, Rome, Italy., De Jaco A; Department of Biology and Biotechnology 'Charles Darwin', University of Rome 'La Sapienza', P.le Aldo Moro 5, 00185, Rome, Italy.; Research Center of Neurobiology 'Daniel Bovet', University of Rome 'La Sapienza', P.le Aldo Moro 5, 00185, Rome, Italy., Tata AM; Department of Biology and Biotechnology 'Charles Darwin', University of Rome 'La Sapienza', P.le Aldo Moro 5, 00185, Rome, Italy.; Research Center of Neurobiology 'Daniel Bovet', University of Rome 'La Sapienza', P.le Aldo Moro 5, 00185, Rome, Italy., Ferrari D; Veneto Institute of Molecular Medicine (VIMM), via Orus 2, 35129, Padova, Italy., Cutruzzolà F; Department of Biochemical Sciences, 'A. Rossi Fanelli', University of Rome 'La Sapienza', P.le Aldo Moro 5, 00185, Rome, Italy., Mazzoccoli G; Department of Medical Sciences, Division of Internal Medicine and Chronobiology Laboratory, Fondazione IRCCS Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013, San Giovanni Rotondo, Italy., Ziviani E; Department of Biology, University of Padova, Via U. Bassi 58/b, 35121, Padova, Italy., Pennuto M; Veneto Institute of Molecular Medicine (VIMM), via Orus 2, 35129, Padova, Italy. maria.pennuto@unipd.it.; Department of Biomedical Sciences, University of Padova, via Ugo Bassi 58/B, 35131, Padova, Italy. maria.pennuto@unipd.it., Vescovi AL; Cellular Reprogramming Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013, San Giovanni Rotondo, FG, Italy. angelo.vescovi@unimib.it.; Department of Biotechnology and Biosciences, University of Milano-Bicocca, Piazza della Scienza 2, 20126, Milano, Italy. angelo.vescovi@unimib.it., Rosati J; Cellular Reprogramming Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013, San Giovanni Rotondo, FG, Italy. j.rosati@css-mendel.it.
Publikováno v: Cell death & disease [Cell Death Dis] 2022 Nov 21; Vol. 13 (11), pp. 981. Date of Electronic Publication: 2022 Nov 21.
Zobrazit plný text záznamu
7
Akademický článek
HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations.
Autor: Hirsch N; Department of Life Sciences, Faculty of Natural Sciences, The Ben-Gurion University of the Negev, Beer-Sheva, 84105, Israel.; Center of Evolutionary Genomics and Medicine, The Ben-Gurion University of the Negev, Beer-Sheva, 84105, Israel., Dahan I; Department of Life Sciences, Faculty of Natural Sciences, The Ben-Gurion University of the Negev, Beer-Sheva, 84105, Israel.; Center of Evolutionary Genomics and Medicine, The Ben-Gurion University of the Negev, Beer-Sheva, 84105, Israel., D'haene E; Center for Medical Genetics, Ghent University, 9000, Ghent, Belgium., Avni M; Department of Life Sciences, Faculty of Natural Sciences, The Ben-Gurion University of the Negev, Beer-Sheva, 84105, Israel.; Center of Evolutionary Genomics and Medicine, The Ben-Gurion University of the Negev, Beer-Sheva, 84105, Israel., Vergult S; Center for Medical Genetics, Ghent University, 9000, Ghent, Belgium., Vidal-García M; Department of Cell Biology and Anatomy, Alberta Children's Hospital Research Institute, University of Calgary, T2N 1N4, Calgary, Alberta, Canada., Magini P; U.O. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138, Bologna, Italy., Graziano C; U.O. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138, Bologna, Italy., Severi G; U.O. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138, Bologna, Italy., Bonora E; U.O. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138, Bologna, Italy.; Department of Medical and Surgical Sciences, University of Bologna, 40126, Bologna, Italy., Nardone AM; Medical Genetics Unit, Policlinico Tor Vergata University Hospital, 00133, Rome, Italy., Brancati F; Department of Life, Health and Environmental Sciences, University of L'Aquila, 67100, L'Aquila, Italy.; Human Functional Genomics Laboratory, San Raffaele Pisana, 00167, Rome, Italy., Fernández-Jaén A; Department of Pediatrics and Neurology, Hospital Universitario Quirónsalud, School of Medicine, Universidad Europea de Madrid, 28223, Madrid, Spain., Rory OJ; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota 55905, USA., Hallgrímsson B; Department of Cell Biology and Anatomy, Alberta Children's Hospital Research Institute, University of Calgary, T2N 1N4, Calgary, Alberta, Canada., Birnbaum RY; Department of Life Sciences, Faculty of Natural Sciences, The Ben-Gurion University of the Negev, Beer-Sheva, 84105, Israel.; Center of Evolutionary Genomics and Medicine, The Ben-Gurion University of the Negev, Beer-Sheva, 84105, Israel.
Publikováno v: Genome research [Genome Res] 2022 Jul; Vol. 32 (7), pp. 1242-1253. Date of Electronic Publication: 2022 Jun 16.
Zobrazit plný text záznamu
8
Akademický článek
Clinical Application of Easychip 8x15K Platform in 4106 Pregnancies Without Ultrasound Anomalies.
Autor: Orlando V; Department of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. valeria.orlando@opbg.net., Alesi V; Department of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Di Giacomo G; San Pietro Fatebenefratelli Hospital, UOSD Medical Genetics, Rome, Italy., Canestrelli M; San Pietro Fatebenefratelli Hospital, UOSD Medical Genetics, Rome, Italy., Calacci C; Department of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Nardone AM; Foundation PTV Polyclinic Tor Vergata, Laboratory of Medical Genetics, Rome, Italy., Calvieri G; Department of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Liambo MT; Department of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Sallicandro E; Department of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Di Tommaso S; Department of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Di Gregorio MG; San Pietro Fatebenefratelli Hospital, UOSD Medical Genetics, Rome, Italy., Corrado F; Department of Human Pathology in Adulthood and Childhood, University of Messina, Messina, Italy., Barrano G; San Pietro Fatebenefratelli Hospital, UOSD Medical Genetics, Rome, Italy., Niceta M; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Dallapiccola B; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Novelli A; Department of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Publikováno v: Reproductive sciences (Thousand Oaks, Calif.) [Reprod Sci] 2021 Apr; Vol. 28 (4), pp. 1142-1149. Date of Electronic Publication: 2021 Jan 06.
Zobrazit plný text záznamu
9
Report
Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype.
Autor: Tedesco MG; Medical Genetics Unit, Santa Maria della Misericordia Hospital and University of Perugia, Perugia, Italy.; Genetics Unit, 'Mauro Baschirotto' Institute for Rare Diseases (B.I.R.D.), Vicenza, Italy., Lonardo F; Medical Genetics Unit, 'San Pio' Hospital, Benevento, Italy., Ceccarini C; Cytogenetics Unit, Policlinico Riuniti, University Hospitals Foggia, Foggia, Italy., Cesarano C; Cytogenetics Unit, Policlinico Riuniti, University Hospitals Foggia, Foggia, Italy., Digilio MC; Laboratory of Medical Genetics, Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Magliozzi M; Laboratory of Medical Genetics, Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Rogaia D; Medical Genetics Unit, Santa Maria della Misericordia Hospital and University of Perugia, Perugia, Italy., Mencarelli A; Medical Genetics Unit, Santa Maria della Misericordia Hospital and University of Perugia, Perugia, Italy., Leoni C; Department of Woman and Child Health and Public Health, Center for Rare Diseases and Birth Defects, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy., Piscopo C; U.O.S.C. Medical Genetics, A.O.R.N. 'A. Cardarelli', Naples, Italy., Imperatore V; Medical Genetics Unit, Santa Maria della Misericordia Hospital and University of Perugia, Perugia, Italy., Falco MT; Medical Genetics Unit, 'San Pio' Hospital, Benevento, Italy., Fontana P; Medical Genetics Unit, 'San Pio' Hospital, Benevento, Italy., Nardone AM; Medical Genetics Laboratory, 'Policlinico Tor Vergata' Hospital, Rome, Italy., Novelli A; Laboratory of Medical Genetics, Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Troiani S; Medical Genetics Unit, Santa Maria della Misericordia Hospital and University of Perugia, Perugia, Italy.; Division of Neonatology and Neonatal Intensive Care Unit, Santa Maria della Misericordia Hospital of Perugia, Perugia, Italy., Seri M; Medical Genetics Unit, Policlinico S. Orsola-Malpighi, University of Bologna, Bologna, Italy., Prontera P; Medical Genetics Unit, Santa Maria della Misericordia Hospital and University of Perugia, Perugia, Italy.
Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2021 Apr; Vol. 185 (4), pp. 1204-1210. Date of Electronic Publication: 2021 Jan 14.
Zobrazit plný text záznamu
10
Report
Tremor is a major feature of 9p13 deletion syndrome.
Autor: Ferreira SI; Laboratory of Cytogenetics and Genomics, Faculty of Medicine, University of Coimbra, Coimbra, Portugal., Cinnirella G; Medical Genetics Residency Program, Tor Vergata University of Rome and University of L'Aquila, L'Aquila, Italy., Ramos L; Medical Genetics Unit, Pediatric Hospital, Coimbra Hospital and University Centre, Coimbra, Portugal., Suppa A; Department of Human Neurosciences, Sapienza University, Rome, Italy.; Neuromed IRCCS, Pozzilli, Isernia, Italy., Pires LM; Laboratory of Cytogenetics and Genomics, Faculty of Medicine, University of Coimbra, Coimbra, Portugal., Nardone AM; Laboratory of Medical Genetics, Policlinico Tor Vergata, Rome, Italy., Camerota L; Medical Genetics Residency Program, Tor Vergata University of Rome and University of L'Aquila, L'Aquila, Italy., Lanciotti S; Medical Genetics Residency Program, Tor Vergata University of Rome and University of L'Aquila, L'Aquila, Italy., Galasso C; Department of Systems Medicine, Division of Child Neurology and Psychiatry, Tor Vergata University of Rome, Rome, Italy., De Maio F; Department of Orthopaedic Surgery, Tor Vergata University of Rome, Rome, Italy., de Melo JB; Laboratory of Cytogenetics and Genomics, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.; Coimbra Institute for Clinical and Biomedical Research (iCBR), Area of Environment, Genetics and Oncobiology (CIMAGO), Faculty of Medicine, University of Coimbra, Center for Innovative Biomedicine and Biotechnology (CIBB), Coimbra, Portugal.; Clinical Academic Center of Coimbra (CACC), Coimbra, Portugal., Carreira IM; Laboratory of Cytogenetics and Genomics, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.; Coimbra Institute for Clinical and Biomedical Research (iCBR), Area of Environment, Genetics and Oncobiology (CIMAGO), Faculty of Medicine, University of Coimbra, Center for Innovative Biomedicine and Biotechnology (CIBB), Coimbra, Portugal.; Clinical Academic Center of Coimbra (CACC), Coimbra, Portugal., Brancati F; Medical Genetics Laboratory, Department of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila, Italy.; Istituto Dermopatico dell'Immacolata, IDI-IRCCS, Rome, Italy.
Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2020 Nov; Vol. 182 (11), pp. 2694-2698. Date of Electronic Publication: 2020 Sep 08.
Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání

Omezení vyhledávání
Plný text Recenzováno Digitální knihovna AV ČR
Zdroje