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Page 1
The penetrance of MEN2 pheochromocytoma is not only determined by RET mutations.
Castinetti F, Maia AL, Peczkowska M, Barontini M, Hasse-Lazar K, Links TP, Toledo RA, Dvorakova S, Mian C, Bugalho MJ, Zovato S, Alevizaki M, Kvachenyuk A, Bausch B, Loli P, Bergmann SR, Patocs A, Pfeifer M, Costa JB, von Dobschuetz E, Letizia C, Valk G, Barczynski M, Czetwertynska M, Plukker JTM, Sartorato P, Zelinka T, Vlcek P, Yaremchuk S, Weryha G, Canu L, Wohllk N, Sebag F, Walz MK, Eng C, Neumann HPH. Castinetti F, et al. Among authors: peczkowska m. Endocr Relat Cancer. 2017 Aug;24(8):L63-L67. doi: 10.1530/ERC-17-0189. Epub 2017 Jun 25. Endocr Relat Cancer. 2017. PMID: 28649091 No abstract available.
Age-related neoplastic risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germ line RET Cys634Trp (TGC>TGG) mutation.
Milos IN, Frank-Raue K, Wohllk N, Maia AL, Pusiol E, Patocs A, Robledo M, Biarnes J, Barontini M, Links TP, de Groot JW, Dvorakova S, Peczkowska M, Rybicki LA, Sullivan M, Raue F, Zosin I, Eng C, Neumann HP. Milos IN, et al. Among authors: peczkowska m. Endocr Relat Cancer. 2008 Dec;15(4):1035-41. doi: 10.1677/ERC-08-0105. Epub 2008 Sep 15. Endocr Relat Cancer. 2008. PMID: 18794325
Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10.
Frank-Raue K, Rybicki LA, Erlic Z, Schweizer H, Winter A, Milos I, Toledo SP, Toledo RA, Tavares MR, Alevizaki M, Mian C, Siggelkow H, Hüfner M, Wohllk N, Opocher G, Dvořáková S, Bendlova B, Czetwertynska M, Skasko E, Barontini M, Sanso G, Vorländer C, Maia AL, Patocs A, Links TP, de Groot JW, Kerstens MN, Valk GD, Miehle K, Musholt TJ, Biarnes J, Damjanovic S, Muresan M, Wüster C, Fassnacht M, Peczkowska M, Fauth C, Golcher H, Walter MA, Pichl J, Raue F, Eng C, Neumann HP; International RET Exon 10 Consortium. Frank-Raue K, et al. Among authors: peczkowska m. Hum Mutat. 2011 Jan;32(1):51-8. doi: 10.1002/humu.21385. Hum Mutat. 2011. PMID: 20979234
Long-term prognosis of patients with pediatric pheochromocytoma.
Bausch B, Wellner U, Bausch D, Schiavi F, Barontini M, Sanso G, Walz MK, Peczkowska M, Weryha G, Dall'igna P, Cecchetto G, Bisogno G, Moeller LC, Bockenhauer D, Patocs A, Rácz K, Zabolotnyi D, Yaremchuk S, Dzivite-Krisane I, Castinetti F, Taieb D, Malinoc A, von Dobschuetz E, Roessler J, Schmid KW, Opocher G, Eng C, Neumann HP. Bausch B, et al. Among authors: peczkowska m. Endocr Relat Cancer. 2013 Dec 16;21(1):17-25. doi: 10.1530/ERC-13-0415. Print 2014 Feb. Endocr Relat Cancer. 2013. PMID: 24169644
Pathogenicity of DNA variants and double mutations in multiple endocrine neoplasia type 2 and von Hippel-Lindau syndrome.
Erlic Z, Hoffmann MM, Sullivan M, Franke G, Peczkowska M, Harsch I, Schott M, Gabbert HE, Valimäki M, Preuss SF, Hasse-Lazar K, Waligorski D, Robledo M, Januszewicz A, Eng C, Neumann HP. Erlic Z, et al. Among authors: peczkowska m. J Clin Endocrinol Metab. 2010 Jan;95(1):308-13. doi: 10.1210/jc.2009-1728. Epub 2009 Nov 11. J Clin Endocrinol Metab. 2010. PMID: 19906784 Free PMC article.
Outcomes of adrenal-sparing surgery or total adrenalectomy in phaeochromocytoma associated with multiple endocrine neoplasia type 2: an international retrospective population-based study.
Castinetti F, Qi XP, Walz MK, Maia AL, Sansó G, Peczkowska M, Hasse-Lazar K, Links TP, Dvorakova S, Toledo RA, Mian C, Bugalho MJ, Wohllk N, Kollyukh O, Canu L, Loli P, Bergmann SR, Biarnes Costa J, Makay O, Patocs A, Pfeifer M, Shah NS, Cuny T, Brauckhoff M, Bausch B, von Dobschuetz E, Letizia C, Barczynski M, Alevizaki MK, Czetwertynska M, Ugurlu MU, Valk G, Plukker JT, Sartorato P, Siqueira DR, Barontini M, Szperl M, Jarzab B, Verbeek HH, Zelinka T, Vlcek P, Toledo SP, Coutinho FL, Mannelli M, Recasens M, Demarquet L, Petramala L, Yaremchuk S, Zabolotnyi D, Schiavi F, Opocher G, Racz K, Januszewicz A, Weryha G, Henry JF, Brue T, Conte-Devolx B, Eng C, Neumann HP. Castinetti F, et al. Among authors: peczkowska m. Lancet Oncol. 2014 May;15(6):648-55. doi: 10.1016/S1470-2045(14)70154-8. Epub 2014 Apr 15. Lancet Oncol. 2014. PMID: 24745698
Preventive medicine of von Hippel-Lindau disease-associated pancreatic neuroendocrine tumors.
Krauss T, Ferrara AM, Links TP, Wellner U, Bancos I, Kvachenyuk A, Villar Gómez de Las Heras K, Yukina MY, Petrov R, Bullivant G, von Duecker L, Jadhav S, Ploeckinger U, Welin S, Schalin-Jäntti C, Gimm O, Pfeifer M, Ngeow J, Hasse-Lazar K, Sansó G, Qi X, Ugurlu MU, Diaz RE, Wohllk N, Peczkowska M, Aberle J, Lourenço DM Jr, Pereira MAA, Fragoso MCBV, Hoff AO, Almeida MQ, Violante AHD, Quidute ARP, Zhang Z, Recasens M, Díaz LR, Kunavisarut T, Wannachalee T, Sirinvaravong S, Jonasch E, Grozinsky-Glasberg S, Fraenkel M, Beltsevich D, Egorov VI, Bausch D, Schott M, Tiling N, Pennelli G, Zschiedrich S, Därr R, Ruf J, Denecke T, Link KH, Zovato S, von Dobschuetz E, Yaremchuk S, Amthauer H, Makay Ö, Patocs A, Walz MK, Huber TB, Seufert J, Hellman P, Kim RH, Kuchinskaya E, Schiavi F, Malinoc A, Reisch N, Jarzab B, Barontini M, Januszewicz A, Shah N, Young WF Jr, Opocher G, Eng C, Neumann HPH, Bausch B. Krauss T, et al. Among authors: peczkowska m. Endocr Relat Cancer. 2018 Sep;25(9):783-793. doi: 10.1530/ERC-18-0100. Epub 2018 May 10. Endocr Relat Cancer. 2018. PMID: 29748190
65 YEARS OF THE DOUBLE HELIX: Genetics informs precision practice in the diagnosis and management of pheochromocytoma.
Neumann HP, Young WF Jr, Krauss T, Bayley JP, Schiavi F, Opocher G, Boedeker CC, Tirosh A, Castinetti F, Ruf J, Beltsevich D, Walz M, Groeben HT, von Dobschuetz E, Gimm O, Wohllk N, Pfeifer M, Lourenço DM Jr, Peczkowska M, Patocs A, Ngeow J, Makay Ö, Shah NS, Tischler A, Leijon H, Pennelli G, Villar Gómez de Las Heras K, Links TP, Bausch B, Eng C. Neumann HP, et al. Among authors: peczkowska m. Endocr Relat Cancer. 2018 Aug;25(8):T201-T219. doi: 10.1530/ERC-18-0085. Epub 2018 May 24. Endocr Relat Cancer. 2018. PMID: 29794110 Review.
Natural history, treatment, and long-term follow up of patients with multiple endocrine neoplasia type 2B: an international, multicentre, retrospective study.
Castinetti F, Waguespack SG, Machens A, Uchino S, Hasse-Lazar K, Sanso G, Else T, Dvorakova S, Qi XP, Elisei R, Maia AL, Glod J, Lourenço DM Jr, Valdes N, Mathiesen J, Wohllk N, Bandgar TR, Drui D, Korbonits M, Druce MR, Brain C, Kurzawinski T, Patocs A, Bugalho MJ, Lacroix A, Caron P, Fainstein-Day P, Borson Chazot F, Klein M, Links TP, Letizia C, Fugazzola L, Chabre O, Canu L, Cohen R, Tabarin A, Spehar Uroic A, Maiter D, Laboureau S, Mian C, Peczkowska M, Sebag F, Brue T, Mirebeau-Prunier D, Leclerc L, Bausch B, Berdelou A, Sukurai A, Vlcek P, Krajewska J, Barontini M, Vaz Ferreira Vargas C, Valerio L, Ceolin L, Akshintala S, Hoff A, Godballe C, Jarzab B, Jimenez C, Eng C, Imai T, Schlumberger M, Grubbs E, Dralle H, Neumann HP, Baudin E. Castinetti F, et al. Among authors: peczkowska m. Lancet Diabetes Endocrinol. 2019 Mar;7(3):213-220. doi: 10.1016/S2213-8587(18)30336-X. Epub 2019 Jan 16. Lancet Diabetes Endocrinol. 2019. PMID: 30660595 Free PMC article.
Comparison of Pheochromocytoma-Specific Morbidity and Mortality Among Adults With Bilateral Pheochromocytomas Undergoing Total Adrenalectomy vs Cortical-Sparing Adrenalectomy.
Neumann HPH, Tsoy U, Bancos I, Amodru V, Walz MK, Tirosh A, Kaur RJ, McKenzie T, Qi X, Bandgar T, Petrov R, Yukina MY, Roslyakova A, van der Horst-Schrivers ANA, Berends AMA, Hoff AO, Castroneves LA, Ferrara AM, Rizzati S, Mian C, Dvorakova S, Hasse-Lazar K, Kvachenyuk A, Peczkowska M, Loli P, Erenler F, Krauss T, Almeida MQ, Liu L, Zhu F, Recasens M, Wohllk N, Corssmit EPM, Shafigullina Z, Calissendorff J, Grozinsky-Glasberg S, Kunavisarut T, Schalin-Jäntti C, Castinetti F, Vlcek P, Beltsevich D, Egorov VI, Schiavi F, Links TP, Lechan RM, Bausch B, Young WF Jr, Eng C; International Bilateral-Pheochromocytoma-Registry Group. Neumann HPH, et al. Among authors: peczkowska m. JAMA Netw Open. 2019 Aug 2;2(8):e198898. doi: 10.1001/jamanetworkopen.2019.8898. JAMA Netw Open. 2019. PMID: 31397861 Free PMC article.
70 results