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Page 1
Role of MDH2 pathogenic variant in pheochromocytoma and paraganglioma patients.
Calsina B, Currás-Freixes M, Buffet A, Pons T, Contreras L, Letón R, Comino-Méndez I, Remacha L, Calatayud M, Obispo B, Martin A, Cohen R, Richter S, Balmaña J, Korpershoek E, Rapizzi E, Deutschbein T, Vroonen L, Favier J, de Krijger RR, Fassnacht M, Beuschlein F, Timmers HJ, Eisenhofer G, Mannelli M, Pacak K, Satrústegui J, Rodríguez-Antona C, Amar L, Cascón A, Dölker N, Gimenez-Roqueplo AP, Robledo M. Calsina B, et al. Among authors: rapizzi e. Genet Med. 2018 Dec;20(12):1652-1662. doi: 10.1038/s41436-018-0068-7. Epub 2018 Jul 16. Genet Med. 2018. PMID: 30008476 Free PMC article.
The regulatory effect of sex steroids on the RhoA/ROCK pathway in the rat distal vagina.
Cellai I, Comeglio P, Filippi S, Martinelli S, Villanelli F, Amore F, Rapizzi E, Maseroli E, Cipriani S, Raddi C, Guarnieri G, Sarchielli E, Danza G, Morelli A, Rastrelli G, Maggi M, Vignozzi L. Cellai I, et al. Among authors: rapizzi e. J Sex Med. 2023 Jan 14;20(1):1-13. doi: 10.1093/jsxmed/qdac009. J Sex Med. 2023. PMID: 36897236
Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas.
Yao L, Schiavi F, Cascon A, Qin Y, Inglada-Pérez L, King EE, Toledo RA, Ercolino T, Rapizzi E, Ricketts CJ, Mori L, Giacchè M, Mendola A, Taschin E, Boaretto F, Loli P, Iacobone M, Rossi GP, Biondi B, Lima-Junior JV, Kater CE, Bex M, Vikkula M, Grossman AB, Gruber SB, Barontini M, Persu A, Castellano M, Toledo SP, Maher ER, Mannelli M, Opocher G, Robledo M, Dahia PL. Yao L, et al. Among authors: rapizzi e. JAMA. 2010 Dec 15;304(23):2611-9. doi: 10.1001/jama.2010.1830. JAMA. 2010. PMID: 21156949 Free article.
Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients.
Piccini V, Rapizzi E, Bacca A, Di Trapani G, Pulli R, Giachè V, Zampetti B, Lucci-Cordisco E, Canu L, Corsini E, Faggiano A, Deiana L, Carrara D, Tantardini V, Mariotti S, Ambrosio MR, Zatelli MC, Parenti G, Colao A, Pratesi C, Bernini G, Ercolino T, Mannelli M. Piccini V, et al. Among authors: rapizzi e. Endocr Relat Cancer. 2012 Apr 10;19(2):149-55. doi: 10.1530/ERC-11-0369. Print 2012 Apr. Endocr Relat Cancer. 2012. PMID: 22241717
MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma.
Burnichon N, Cascón A, Schiavi F, Morales NP, Comino-Méndez I, Abermil N, Inglada-Pérez L, de Cubas AA, Amar L, Barontini M, de Quirós SB, Bertherat J, Bignon YJ, Blok MJ, Bobisse S, Borrego S, Castellano M, Chanson P, Chiara MD, Corssmit EP, Giacchè M, de Krijger RR, Ercolino T, Girerd X, Gómez-García EB, Gómez-Graña A, Guilhem I, Hes FJ, Honrado E, Korpershoek E, Lenders JW, Letón R, Mensenkamp AR, Merlo A, Mori L, Murat A, Pierre P, Plouin PF, Prodanov T, Quesada-Charneco M, Qin N, Rapizzi E, Raymond V, Reisch N, Roncador G, Ruiz-Ferrer M, Schillo F, Stegmann AP, Suarez C, Taschin E, Timmers HJ, Tops CM, Urioste M, Beuschlein F, Pacak K, Mannelli M, Dahia PL, Opocher G, Eisenhofer G, Gimenez-Roqueplo AP, Robledo M. Burnichon N, et al. Among authors: rapizzi e. Clin Cancer Res. 2012 May 15;18(10):2828-37. doi: 10.1158/1078-0432.CCR-12-0160. Epub 2012 Mar 27. Clin Cancer Res. 2012. PMID: 22452945
101 results