Testing of mutations on thyroid nodules with indeterminate cytology: A prospective study of 112 patients in Argentina.

Autor: Tolaba N; Programa de Anatomía Patológica y Genética, Hospital Dr. Arturo Oñativia, Salta, Argentina. Electronic address: norma_tolaba@hotmail.com., Spedaletti Y; Programa de Anatomía Patológica y Genética, Hospital Dr. Arturo Oñativia, Salta, Argentina., Bazzoni P; Programa de Anatomía Patológica y Genética, Hospital Dr. Arturo Oñativia, Salta, Argentina., Galindez M; Programa de Endocrinología, Hospital Dr. Arturo Oñativia, Salta, Argentina., Cerioni V; Programa de Endocrinología, Hospital Dr. Arturo Oñativia, Salta, Argentina., Santillan C; Programa de Endocrinología, Hospital Dr. Arturo Oñativia, Salta, Argentina., Richter G; Área de Cirugía Percutánea, Técnicas Cardíacas e Imágenes. Hospital Dr. Arturo Oñativia, Salta, Argentina., Herrera C; Área de Cirugía Percutánea, Técnicas Cardíacas e Imágenes. Hospital Dr. Arturo Oñativia, Salta, Argentina., Sanchez L; Área de Cirugía Percutánea, Técnicas Cardíacas e Imágenes. Hospital Dr. Arturo Oñativia, Salta, Argentina., Van Cauwlaert L; Programa de Cirugía, Hospital Dr. Arturo Oñativia, Salta, Argentina., Toscano MA; Programa de Anatomía Patológica y Genética, Hospital Dr. Arturo Oñativia, Salta, Argentina., Nallar M; Área de Cirugía Percutánea, Técnicas Cardíacas e Imágenes. Hospital Dr. Arturo Oñativia, Salta, Argentina., Monteros Alvi M; Programa de Anatomía Patológica y Genética, Hospital Dr. Arturo Oñativia, Salta, Argentina. Electronic address: monterosalvi@hotmail.com., Moya CM; Unidad de Genética Médica, Ascires Sistemas Genómicos, Valencia, España.

Publikováno v: Endocrinologia, diabetes y nutricion [Endocrinol Diabetes Nutr (Engl Ed)] 2021 Jun 22. Date of Electronic Publication: 2021 Jun 22.

Identification of a Novel Frameshift Mutation in the Kir6.2 gene in a population of Italian patients affected by Hyprinsulinism of Infancy

Autor: Biagiotti L., Proverbio MC, Bosio L., Gervasi F., Rovida E., Cerioni V., Mora S., Chiumello G., Biunno I

Publikováno v: Experimental and molecular pathology
83 (2007): 59–64. doi:10.1016/j.yexmp.2006.11.006
info:cnr-pdr/source/autori:Biagiotti L., Proverbio MC:, Bosio L., Gervasi F., Rovida E., Cerioni V., Mora S., Chiumello G., Biunno I/titolo:Identification of a Novel Frameshift Mutation in the Kir6.2 gene in a population of Italian patients affected by Hyprinsulinism of Infancy/doi:10.1016%2Fj.yexmp.2006.11.006/rivista:Experimental and molecular pathology (Print)/anno:2007/pagina_da:59/pagina_a:64/intervallo_pagine:59–64/volume:83

Congenital Hyperinsulinism of Infancy (CHI) is a genetically heterogeneous disorder characterized by profound hypoglycemia related to inappropriate insulin secretion. Two histopathologically and genetically distinct groups are recognized among patien

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=cnr_________::2cabebe7e3af4f29a666e8adf36fce9a
http://www.cnr.it/prodotto/i/55913

The Italian National Survey for Prader-Willi syndrome: an epidemiologic study

Autor: Grugni, G, Crinò, A, Bosio, L, Corrias, A, Cuttini, M, DE TONI, T, DI BATTISTA, E, Franzese, A, Gargantini, L, Greggio, N, Iughetti, Lorenzo, Livieri, C, Naselli, A, Pagano, C, Pozzan, G, Ragusa, L, Salvatoni, A, Trifirò, G, Beccaria, L, Bellizzi, M, Bellone, J, Brunani, A, Cappa, M, Caselli, G, Cerioni, V, Delvecchio, M, Giardino, D, Iannì, F, Memo, L, Pilotta, A, Pomara, C, Radetti, G, Sacco, M, Sanzari, A, Sartorio, A, Tonini, G, Vettor, R, Zaglia, F, Chiumello, G, GENETIC OBESITY STUDY GROUP OF ITALIAN SOCIETY OF PEDIATRIC ENDOCRINOLOGY AND DIABETOLOGY ISPED

Twenty-five medical centers and the Prader–Willi Syndrome (PWS) Association collaborated on a study which attempted to identify all people with genetically confirmed diagnosis of PWS living in Italy. Investigators of the participating centers conta

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df3c0c2468dddea8d51d82c16f4b976a
http://hdl.handle.net/11577/2430423

Death in People with Prader-Willi Sindrome: a National Survey

Autor: Grugni, G., Corria, A., Bellone, J., Bosio, L., Cerioni, V., Delvecchio, M., Detoni, T., Dibattista, E., Gargantini, L., Iughetti, L., Livieri, C., Naselli, A., Pilotta, A., Pozzan, G., Ragusa, L., Sacco, M., Salvatoni, Alessandro, Sanzari, A., Sartorio, A., Trifir, G., Aimaretti, G., Crin, A.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3660::fe19e4ba3dea7acb3517e922e500bb61
http://hdl.handle.net/11383/1492647

The Italian registry for patients with Prader–Willi syndrome.

Autor: Salvatore, Marco¹ (AUTHOR) marco.salvatore@iss.it, Torreri, Paola¹ (AUTHOR), Grugni, Graziano² (AUTHOR), Rocchetti, Adele¹ (AUTHOR), Maghnie, Mohamad^3,4 (AUTHOR), Patti, Giuseppa^3,4 (AUTHOR), Crinò, Antonino⁵ (AUTHOR), Elia, Maurizio⁶ (AUTHOR), Greco, Donatella⁶ (AUTHOR), Romano, Corrado^6,7 (AUTHOR), Franzese, Adriana⁸ (AUTHOR), Mozzillo, Enza⁸ (AUTHOR), Colao, Annamaria⁸ (AUTHOR), Pugliese, Gabriella⁸ (AUTHOR), Pagotto, Uberto⁹ (AUTHOR), Lo Preiato, Valentina⁹ (AUTHOR), Scarano, Emanuela¹⁰ (AUTHOR), Schiavariello, Concetta¹⁰ (AUTHOR), Tornese, Gianluca¹¹ (AUTHOR), Fintini, Danilo¹² (AUTHOR)

Publikováno v: Orphanet Journal of Rare Diseases. 2/15/2023, Vol. 18 Issue 1, p1-9. 9p.