Technical Design Report for the Paul Scherrer Institute Experiment R-12-01.1: Studying the Proton 'Radius' Puzzle with {\mu}p Elastic Scattering

Autor: Gilman, R., Downie, E. J., Ron, G., Strauch, S., Afanasev, A., Akmal, A., Arrington, J., Atac, H., Ayerbe-Gayoso, C., Benmokhtar, F., Benmouna, N., Bernauer, J., Blomberg, A., Briscoe, W. J., Cioffi, D., Cline, E., Cohen, D., Cohen, E. O., Collicott, C., Deiters, K., Diefenbach, J., Dongwi, B., Ghosal, D., Golossanov, A., Gothe, R., Higinbotham, D., Hornidge, D., Ilieva, Y., Kalantarians, N., Kohl, M., Krusche, B., Kumbartzki, G., Lavrukhin, I., Li, L., Lichtenstadt, J., Lin, W., Liyanage, A., Lorenzon, W., Mesick, K. E., Meziani, Z. -E., Mohanmurthy, P., Moran, P., Nazeer, J., Piasetzsky, E., Ransome, R., Raymond, R., Reggiani, D., Reimer, P. E., Richter, A., Rostomyan, T., Roy, P., Sarty, A., Shamai, Y., Sparveris, N., Steinberg, N., Strakovsky, I., Sulkosky, V., Tadepalli, A. S., Taragin, M.

The difference in proton radii measured with $\mu p$ atoms and with $ep$ atoms and scattering remains an unexplained puzzle. The PSI MUSE proposal is to measure $\mu p$ and $e p$ scattering in the same experiment at the same time. The experiment will

Externí odkaz: http://arxiv.org/abs/1709.09753

Genotype-Phenotype Correlation of GNAS Gene: Review and Disease Management of a Hotspot Mutation.

Autor: Cipriano L; Department of Molecular Medicine and Medical Biotechnology, University Federico II, 80131 Naples, Italy., Ferrigno R; Endocrinology and Auxology Unit, Pediatrics Speciality Department, A.O.R.N. Santobono-Pausilipon, 80131 Naples, Italy., Andolfo I; Department of Molecular Medicine and Medical Biotechnology, University Federico II, 80131 Naples, Italy., Russo R; Department of Molecular Medicine and Medical Biotechnology, University Federico II, 80131 Naples, Italy., Cioffi D; Endocrinology and Auxology Unit, Pediatrics Speciality Department, A.O.R.N. Santobono-Pausilipon, 80131 Naples, Italy., Savanelli MC; Endocrinology and Auxology Unit, Pediatrics Speciality Department, A.O.R.N. Santobono-Pausilipon, 80131 Naples, Italy., Pellino V; Endocrinology and Auxology Unit, Pediatrics Speciality Department, A.O.R.N. Santobono-Pausilipon, 80131 Naples, Italy., Klain A; Endocrinology and Auxology Unit, Pediatrics Speciality Department, A.O.R.N. Santobono-Pausilipon, 80131 Naples, Italy., Iolascon A; Department of Molecular Medicine and Medical Biotechnology, University Federico II, 80131 Naples, Italy., Piscopo C; Medical and Laboratory Genetics Unit, A.O.R.N. 'Antonio Cardarelli', 80131 Naples, Italy.

Publikováno v: International journal of molecular sciences [Int J Mol Sci] 2024 Oct 10; Vol. 25 (20). Date of Electronic Publication: 2024 Oct 10.

Metabolic and Growth Outcome of Two-year Growth Hormone Treatment in Children Born Small for Gestational Age: A Retrospective Study.

Autor: Savanelli MC; UOSD di Auxologia ed Endocrinologia, AORN Santobono-Pausilipon, Napoli, Italy., Ferrigno R; UOSD di Auxologia ed Endocrinologia, AORN Santobono-Pausilipon, Napoli, Italy., Cioffi D; UOSD di Auxologia ed Endocrinologia, AORN Santobono-Pausilipon, Napoli, Italy., Pellino V; UOSD di Auxologia ed Endocrinologia, AORN Santobono-Pausilipon, Napoli, Italy., Klain A; UOSD di Auxologia ed Endocrinologia, AORN Santobono-Pausilipon, Napoli, Italy.

Publikováno v: Endocrine, metabolic & immune disorders drug targets [Endocr Metab Immune Disord Drug Targets] 2024 May 31. Date of Electronic Publication: 2024 May 31.

Diagnostic issues faced by a rare disease healthcare network during Covid-19 outbreak: data from the Campania Rare Disease Registry

Autor: Limongelli G, Iucolano S, Monda E, Elefante P, De Stasio C, Lubrano I, Caiazza M, Mazzella M, Fimiani F, Galdo M, De Marchi G, Esposito M, Rubino M, Cirillo A, Fusco A, Esposito A, Trama U, Esposito S, Scarano G, Sepe J, Andria G, Orlando V, Menditto E, Chiodini P, Campania Rare Disease, Iolascon A, Franzese A, Sanduzzi Zamparelli A, Tessitore A, Romano A, Venosa A, Nunzia Olivieri A, Bianco A, La Manna A, Cerbone AM, Spasiano A, Agnese Stanziola A, Colao A, De Bellis A, Gambale A, Toriello A, Tufano A, Ciampa A, Maria Risitano A, Pisani A, Russo A, Volpe A, De Martino B, Amato B, De Fusco C, Piscopo C, Selleri C, Tucci C, Pignata C, Cioffi D, Melis D, Pasquali D, De Brasi D, Spitaleri D, Russo D, Martellotta D, De Michele E, Varricchio E, Miraglia Del Giudice E, Coscioni E, Cimino E, Pane F, Tranfa F, Pollio F, Lonardo F, Nuzzi F, Simonelli F, Trojsi F, Habetswallner F, Valentini G, Cerbone G, Parenti G, Tedeschi G, Capasso G, Battista Rossi G, Gaglione G, Sarnelli G, Argenziano G, Bellastella G, De Michele G, Fiorentino G, Spadaro G, Scala I, Santoro L, Zeppa L, Auricchio L, Elio Adinolfi L, Alessio M, Amitrano M, Savanelli MC, Russo MG, Ferrucci MG, Carbone MT, Pellecchia MT, Salerno M, Melone M, Del Donno M, Vitale M, Triggiani M, Della Monica M, Lo Presti M, Tenuta M, Mignogna MD, Schiavulli M, Zacchia M, Brunetti-Pierri N, Iovino P, Moscato P, Iandoli R, Scarpa R, Russo R, Troisi S, Sbordone S, Perrotta S, Fecarotta S, Sampaolo S, Cicalese V.

Publikováno v: Journal of Public Health (Oxford, England)

Background The aims of this study were: to investigate the capacity of the rare disease healthcare network in Campania to diagnose patients with rare diseases during the outbreak of Covid-19; and to shed light on problematic diagnoses during this per

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c2821a0f78a29e2e3dd1c380a076f81
https://doi.org/10.1093/pubmed/fdab137

Co-occurrence of Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type 1B: coincidence or common molecular mechanism?

Autor: Pignata L; Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università degli Studi della Campania 'Luigi Vanvitelli', Caserta, Italy., Cecere F; Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università degli Studi della Campania 'Luigi Vanvitelli', Caserta, Italy., Acquaviva F; UOSD Genetica Medica, Dipartimento di Pediatria Generale e d'Urgenza, AORN Santobono-Pausilipon, Naples, Italy., D'Angelo E; Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università degli Studi della Campania 'Luigi Vanvitelli', Caserta, Italy., Cioffi D; UOSD Auxologia e Endocrinologia Pediatrica, Dipartimento di Pediatria Specialistica, AORN Santobono-Pausilipon, Naples, Italy., Pellino V; UOSD Auxologia e Endocrinologia Pediatrica, Dipartimento di Pediatria Specialistica, AORN Santobono-Pausilipon, Naples, Italy., Palumbo O; Division of Medical Genetics, Fondazione IRCCS 'Casa Sollievo della Sofferenza', San Giovanni Rotondo, Italy., Palumbo P; Division of Medical Genetics, Fondazione IRCCS 'Casa Sollievo della Sofferenza', San Giovanni Rotondo, Italy., Carella M; Division of Medical Genetics, Fondazione IRCCS 'Casa Sollievo della Sofferenza', San Giovanni Rotondo, Italy., Sparago A; Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università degli Studi della Campania 'Luigi Vanvitelli', Caserta, Italy., De Brasi D; UOSD Genetica Medica, Dipartimento di Pediatria Generale e d'Urgenza, AORN Santobono-Pausilipon, Naples, Italy., Cerrato F; Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università degli Studi della Campania 'Luigi Vanvitelli', Caserta, Italy., Riccio A; Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università degli Studi della Campania 'Luigi Vanvitelli', Caserta, Italy.; Istituto di Genetica e Biofisica 'Adriano Buzzati Traverso' Consiglio Nazionale delle Ricerche, Naples, Italy.

Publikováno v: Frontiers in cell and developmental biology [Front Cell Dev Biol] 2023 Aug 10; Vol. 11, pp. 1237629. Date of Electronic Publication: 2023 Aug 10 (Print Publication: 2023).