Zobrazeno 1 - 10
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pro vyhledávání: '"Contreas G."'
Akademický článek
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Autor:
Costantini, S, Malerba, Giovanni, Contreas, G, Corradi, Massimiliano, Marin Vargas, Sergio Paul, Giorgetti, Alejandro, Maffeis, Claudio
Publikováno v:
Clinical genetics. 87(5)
Heterozygous loss-of-function mutations in the glucokinase (GCK) gene cause maturity-onset diabetes of the young (MODY) subtype GCK (GCK-MODY/MODY2). GCK sequencing revealed 16 distinct mutations (13 missense, 1 nonsense, 1 splice site, and 1 framesh
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::4d78360c7b4d1c1c822051f936f35bca
https://pubmed.ncbi.nlm.nih.gov/24735133
https://pubmed.ncbi.nlm.nih.gov/24735133
Autor:
Delvecchio, M., Mozzillo, E., Maffeis, C., Lombardo, Fortunato, Contreas, G., Nugnes, R., Santangelo, B., Sacco, M. C., Barbetti, F., Franzese, A., Marigliano, M., Salzano, Giuseppina
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3978::27841dd6826ece8ce343afdaaeba7d76
http://hdl.handle.net/11570/2671190
http://hdl.handle.net/11570/2671190
Autor:
Massa O., Meschi F., Cuesta-Munoz A., Caumo A., Cerutti F., Toni S., Cherubini V., Guazzarotti L., Sulli N., Matschinsky F. M., Lorini R., Iafusco D., Barbetti F., Alibrandi A., Angius E., Bonfanti R., Borboni P., Bernasconi S., Cadario F., Calisti L., Cappa M., Cauvin V., Chiumello G., Cicchetti M., Contreas G., Crino A., D' Annunzio G., Franzese A., Frongia P., Iughetti L., Magro G., Marietti G., Martinucci M., Meossi C., Multari G., Rabbone I., Scaramuzza A., Vanelli M., Vanini R., Visentin A., Vitullo P.
Publikováno v:
Diabetologia. 44(7)
Aims/hypothesis. The aim of this study was to assess the prevalence of glucokinase gene mutations in Italian children with MODY and to investigate genotype/phenotype correlations of the mutants. Methods. Screening for sequence variants in the glucoki
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1b26dd4e9a08e0097296c42f63ccc0f
https://pubmed.ncbi.nlm.nih.gov/11508276
https://pubmed.ncbi.nlm.nih.gov/11508276
Autor:
Nisticò, L, Iafusco, D, Galderisi, A, Fagnani, C, Cotichini, R, Toccaceli, V, Stazi, Ma, Study Group on Diabetes of the Italian Society of Pediatric Endocrinology, Collaborators: Cherubini V, D. i. a. b. e. t. o. l. o. g. y., Iannilli, A, Paparusso, Am, Cavallo, L, Zecchino, C, de Filippo, G, Gargantini, L, Salardi, S, Zucchini, S, Maltoni, G, Pasquino, B, Kaufmann, P, Buzi, F, Prandi, E, Gallo, F, Cicchetti, M, Castaldo, E, Citriniti, F, Chiarelli, F, Tumini, S, Di Stefano, A, Sperlì, D, De Marco, R, Banin, P, Toni, S, Lenzi, L, Del Vecchio, M, Lorini, R, D'Annunzio, G, Ingletto, D, Scaramuzza, A, Zuccotti, Gv, Chiumello, G, Meschi, F, Bonfanti, R, Frontino, G, de Luca, F, Lombardo, F, Salzano, G, Iughetti, L, Franzese, A, Buono, P, De Simone, I, Prisco, F, Cocca, A, Cadario, F, Monciotti, Cm, Savio, V, Cardella, F, Vanelli, M, Chiari, G, Errico, K, Iovane, B, Calcaterra, V, Citro, F, Cantoni, S, Marsciani, A, Cappa, M, Patera, Pi, Schiaffini, R, Sulli, N, Spoletini, M, Cerutti, Franco, Rabbone, I, Sicignano, S, Cauvin, V, Bellizzi, M, Tonini, G, Faleschini, E, Salvatoni, A, Pinelli, L, Maffeis, C, Contreas, G.
Context:The incidence of type 1 diabetes has been increasing over time.Objective:We estimated the genetic and environmental components of type 1 diabetes susceptibility in a twin cohort of recent-onset cases to explore the sources of changing disease
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1be6fa7b3200bf710dd648651b595753
http://hdl.handle.net/11577/3219196
http://hdl.handle.net/11577/3219196
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
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Autor:
Lorini, L., Alibrandi, A., Vitali, L., Martinetti, M., Betterle, C., D'Annunzio, G., Cherubini, E. BONIFACIO AND PEDIATRIC ITALIAN STUDY GROUP OF PREDIABETES V., Cavallo, L., Dammacco, F., Cerasoli, G., Pocecco, M., Tumini, S., Chiarelli, F., Mancuso, M., Banin, P., Toni, S., Martinucci, M., Barella, C., Coltellessa, M., Monaci, A., Lombardo, F., Meschi, F., Chiumello, G., Iughetti, L., Brnasconi, S., Iafusco, D., Prisco, F., Franzese, A., Cadario, F., Cardella, F., Monciotti, C., Giacchero, R., Avanzini, M. A., Calisti, M. A. L., Chiari, G., Vanelli, M., Guazzarotti, L., Sulli, Nicoletta, Multari, G., Crin, A., Marietti, G., Piccinini, S., MANCA BITTI, L. M., Sacchini, P., Masciani, A., Sacchetti, C., Cerutti, F., Tonini, G., Visentin, A., Contreas, G., Pinelli, L.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3686::7b305bcfebb6d46f68d64dbc65d4d99b
http://hdl.handle.net/11573/114276
http://hdl.handle.net/11573/114276