Clinical and molecular cytogenetic studies of five new patients with 20q11q12 deletion and review of the literature: Proposition of two critical regions.

Autor: Bensaid S; Hospices Civils de Lyon, GHE, Service de Génétique, Lyon, France.; Laboratoire d'Environnement et de Santé, Université de Sidi Bel Abbés, UDL, Sidi Bel Abbés, Algeria., Bendahmane M; Laboratoire d'Environnement et de Santé, Université de Sidi Bel Abbés, UDL, Sidi Bel Abbés, Algeria., Loddo S; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Poke G; Genetic Health Service New Zealand, Wellington Hospital, Wellington, New Zealand., Januel L; Hospices Civils de Lyon, GHE, Service de Génétique, Lyon, France., Nicolle R; AP-HP, Hôpital Necker-Enfants Malades, Fédération de Génétique et Médecine Génomique, Service de Médecine Génomique des Maladies Rares, Paris, France., Malan V; AP-HP, Hôpital Necker-Enfants Malades, Fédération de Génétique et Médecine Génomique, Service de Médecine Génomique des Maladies Rares, Paris, France., Chatron N; Hospices Civils de Lyon, GHE, Service de Génétique, Lyon, France.; Université Claude Bernard Lyon 1, CNRS, INSERM, Physiopathologie et Génétique du Neurone et du Muscle, UMR5261, U1315, Institut NeuroMyoGène, Lyon, France., Ottombrino S; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Dentici ML; Medical Genetics Unit, Bambino Gesù Children Hospital, IRCCS, Rome, Italy., Novelli A; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Digilio MC; Medical Genetics Unit, Bambino Gesù Children Hospital, IRCCS, Rome, Italy., Sanlaville D; Hospices Civils de Lyon, GHE, Service de Génétique, Lyon, France.; Université Claude Bernard Lyon 1, CNRS, INSERM, Physiopathologie et Génétique du Neurone et du Muscle, UMR5261, U1315, Institut NeuroMyoGène, Lyon, France.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jul; Vol. 194 (7), pp. e63580. Date of Electronic Publication: 2024 Mar 21.

Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe.

Autor: Garnier N; Pfizer Inc., Collegeville, Pennsylvania, United States of America., Berghout J; Pfizer Inc., Collegeville, Pennsylvania, United States of America., Zygmunt A; Pfizer Inc., Collegeville, Pennsylvania, United States of America., Singh D; Pfizer Inc., Collegeville, Pennsylvania, United States of America., Huang KA; Pfizer Inc., Collegeville, Pennsylvania, United States of America., Kantz W; Pfizer Inc., Collegeville, Pennsylvania, United States of America., Blankart CR; KPM Center for Public Management and Swiss Institute for Translational and Entrepreneurial Medicine, University of Bern, Bern, Switzerland., Gillner S; KPM Center for Public Management and Swiss Institute for Translational and Entrepreneurial Medicine, University of Bern, Bern, Switzerland., Zhao J; Department of Mathematics and Computer Science, University of Southern Denmark, Odense, Denmark., Roettger R; Department of Mathematics and Computer Science, University of Southern Denmark, Odense, Denmark., Saier C; Department of Neuropediatric and Muscle Disorders, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Kirschner J; Department of Neuropediatric and Muscle Disorders, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Schenk J; Takeda Pharmaceuticals International AG, Opfikon, Switzerland., Atkins L; Takeda Pharmaceuticals International AG, Opfikon, Switzerland., Ryan N; Takeda Pharmaceuticals International AG, Opfikon, Switzerland., Zarakowska K; Takeda Pharmaceuticals International AG, Opfikon, Switzerland., Zschüntzsch J; Department of Neurology, University Medical Center Goettingen, Göttingen, Germany., Zuccolo M; F. Hoffmann La-Roche, Basel, Switzerland., Müllenborn M; Novo Nordisk Health Care AG, Switzerland &Novo Nordisk A/S, Kloten, Denmark., Man YS; Novo Nordisk Health Care AG, Switzerland &Novo Nordisk A/S, Kloten, Denmark., Goodman L; University College Dublin, National University of Ireland, Dublin, Ireland., Trad M; Lysogene, Neuilly-sur-Seine, France., Chalandon AS; Sanofi, Diegem, Belgium., Sansen S; Sanofi, Diegem, Belgium., Martinez-Fresno M; Illumina, Cambridge, United Kingdom., Badger S; Illumina, Cambridge, United Kingdom., Walther van Olden R; Novartis Gene Therapies Switzerland GmbH, Risch-Rotkreuz, Switzerland., Rothmann R; Research Institute AG & Co KG, Digital Human Rights Center, Wien, Austria., Lehner P; Research Institute AG & Co KG, Digital Human Rights Center, Wien, Austria., Tschohl C; Research Institute AG & Co KG, Digital Human Rights Center, Wien, Austria., Baillon L; PTC Therapeutics Switzerland GmbH, Steinhausen, Switzerland., Gumus G; EURORDIS, Paris, France., Gross E; EURORDIS, Paris, France., Stefanov R; Department of Social Medicine and Public Health, Faculty of Public Health, Medical University of Plovdiv, Plovdiv, Bulgaria.; Bulgarian Association for Promotion of Education and Science, Institute for Rare Disease, Plovdiv, Bulgaria., Iskrov G; Department of Social Medicine and Public Health, Faculty of Public Health, Medical University of Plovdiv, Plovdiv, Bulgaria.; Bulgarian Association for Promotion of Education and Science, Institute for Rare Disease, Plovdiv, Bulgaria., Raycheva R; Department of Social Medicine and Public Health, Faculty of Public Health, Medical University of Plovdiv, Plovdiv, Bulgaria.; Bulgarian Association for Promotion of Education and Science, Institute for Rare Disease, Plovdiv, Bulgaria., Kostadinov K; Department of Social Medicine and Public Health, Faculty of Public Health, Medical University of Plovdiv, Plovdiv, Bulgaria.; Bulgarian Association for Promotion of Education and Science, Institute for Rare Disease, Plovdiv, Bulgaria., Mitova E; Bulgarian Association for Promotion of Education and Science, Institute for Rare Disease, Plovdiv, Bulgaria., Einhorn M; Genoox, Tel Aviv, Israel., Einhorn Y; Genoox, Tel Aviv, Israel., Schepers J; Berlin Institute of Health (at) Charité - Universitätsmedizin Berlin, Berlin, Germany., Hübner M; Berlin Institute of Health (at) Charité - Universitätsmedizin Berlin, Berlin, Germany., Alves F; Translational Molecular Imaging, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany.; Clinic of Hematology and Medical Oncology, University Medical Center, Göttingen, Germany.; Institute for Diagnostic and Interventional Radiology, University Medical Center, Göttingen, Germany., Iskandar R; Swiss Institute for Translational and Entrepreneurial Medicine (sitem-insel), Bern, Switzerland., Mayer R; SBA Research gGmbH, Wien, Austria., Renieri A; Medical Genetics, University of Siena, Siena, Italy., Piperkova A; Bulgarian Association for Personalized Medicine, Sofia, Bulgaria., Gut I; Centro Nacional de Analisis Genomico, CNAG, Barcelona, Spain., Beltran S; Centro Nacional de Analisis Genomico, CNAG, Barcelona, Spain., Matthiesen ME; FindZebra APS, Copenhagen, Denmark., Poetz M; Department of Strategy and Innovation, Copenhagen Business School, Copenhagen, Denmark., Hansson M; Uppsala University, Uppsala, Sweden., Trollmann R; University of Erlangen, Erlangen, Germany., Agolini E; Bambino Gesu' Children Hospital, IRCCS, Rome, Italy., Ottombrino S; Bambino Gesu' Children Hospital, IRCCS, Rome, Italy., Novelli A; Bambino Gesu' Children Hospital, IRCCS, Rome, Italy., Bertini E; Bambino Gesu' Children Hospital, IRCCS, Rome, Italy., Selvatici R; Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, Italy., Farnè M; Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, Italy., Fortunato F; Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, Italy., Ferlini A; Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.

Publikováno v: PloS one [PLoS One] 2023 Nov 22; Vol. 18 (11), pp. e0293503. Date of Electronic Publication: 2023 Nov 22 (Print Publication: 2023).

The Impact of Oxidative Stress on Pediatrics Syndromes.

Autor: Micangeli, Ginevra, Menghi, Michela, Profeta, Giovanni, Tarani, Francesca, Mariani, Alessandro, Petrella, Carla, Barbato, Christian, Ferraguti, Giampiero, Ceccanti, Mauro, Tarani, Luigi, Fiore, Marco

Publikováno v: Antioxidants; Oct2022, Vol. 11 Issue 10, pN.PAG-N.PAG, 33p

Chapter 22: Biotechnology.

Autor: MORACCI, MARCO, COBUCCI-PONZANO, BEATRICE, PERUGINO, GIUSEPPE, ROSSI, MOSÈ

Publikováno v: Archaea: Molecular & Cellular Biology; 2007, p478-495, 18p

Enzymes from Sulfolobus shibatae for the production of trehalose and glucose from starch.

Autor: Di Lernia, Isabella, Morana, Alessandra, Ottombrino, Antonio, Fusco, Stefania, Rossi, Mosè, De Rosa, M.

Publikováno v: Extremophiles; Nov1998, Vol. 2 Issue 4, p409-416, 8p