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Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out.
Neumann HP, Erlic Z, Boedeker CC, Rybicki LA, Robledo M, Hermsen M, Schiavi F, Falcioni M, Kwok P, Bauters C, Lampe K, Fischer M, Edelman E, Benn DE, Robinson BG, Wiegand S, Rasp G, Stuck BA, Hoffmann MM, Sullivan M, Sevilla MA, Weiss MM, Peczkowska M, Kubaszek A, Pigny P, Ward RL, Learoyd D, Croxson M, Zabolotny D, Yaremchuk S, Draf W, Muresan M, Lorenz RR, Knipping S, Strohm M, Dyckhoff G, Matthias C, Reisch N, Preuss SF, Esser D, Walter MA, Kaftan H, Stöver T, Fottner C, Gorgulla H, Malekpour M, Zarandy MM, Schipper J, Brase C, Glien A, Kühnemund M, Koscielny S, Schwerdtfeger P, Välimäki M, Szyfter W, Finckh U, Zerres K, Cascon A, Opocher G, Ridder GJ, Januszewicz A, Suarez C, Eng C. Neumann HP, et al. Among authors: pigny p. Cancer Res. 2009 Apr 15;69(8):3650-6. doi: 10.1158/0008-5472.CAN-08-4057. Epub 2009 Apr 7. Cancer Res. 2009. PMID: 19351833
Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene.
Schiavi F, Boedeker CC, Bausch B, Peçzkowska M, Gomez CF, Strassburg T, Pawlu C, Buchta M, Salzmann M, Hoffmann MM, Berlis A, Brink I, Cybulla M, Muresan M, Walter MA, Forrer F, Välimäki M, Kawecki A, Szutkowski Z, Schipper J, Walz MK, Pigny P, Bauters C, Willet-Brozick JE, Baysal BE, Januszewicz A, Eng C, Opocher G, Neumann HP; European-American Paraganglioma Study Group. Schiavi F, et al. Among authors: pigny p. JAMA. 2005 Oct 26;294(16):2057-63. doi: 10.1001/jama.294.16.2057. JAMA. 2005. PMID: 16249420
International initiative for a curated SDHB variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma.
Ben Aim L, Maher ER, Cascon A, Barlier A, Giraud S, Ercolino T, Pigny P, Clifton-Bligh RJ, Mirebeau-Prunier D, Mohamed A, Favier J, Gimenez-Roqueplo AP, Schiavi F, Toledo RA, Dahia PL, Robledo M, Bayley JP, Burnichon N. Ben Aim L, et al. Among authors: pigny p. J Med Genet. 2022 Aug;59(8):785-792. doi: 10.1136/jmedgenet-2020-107652. Epub 2021 Aug 27. J Med Genet. 2022. PMID: 34452955 Free PMC article.
Primary hyperparathyroidism as first manifestation in multiple endocrine neoplasia type 2A: an international multicenter study.
Larsen LV, Mirebeau-Prunier D, Imai T, Alvarez-Escola C, Hasse-Lazar K, Censi S, Castroneves LA, Sakurai A, Kihara M, Horiuchi K, Barbu VD, Borson-Chazot F, Gimenez-Roqueplo AP, Pigny P, Pinson S, Wohllk N, Eng C, Aydogan BI, Saranath D, Dvorakova S, Castinetti F, Patocs A, Bergant D, Links TP, Peczkowska M, Hoff AO, Mian C, Dwight T, Jarzab B, Neumann HPH, Robledo M, Uchino S, Barlier A, Godballe C, Mathiesen JS. Larsen LV, et al. Among authors: pigny p. Endocr Connect. 2020 Jun;9(6):489-497. doi: 10.1530/EC-20-0163. Endocr Connect. 2020. PMID: 32375120 Free PMC article.
A HIF1alpha regulatory loop links hypoxia and mitochondrial signals in pheochromocytomas.
Dahia PL, Ross KN, Wright ME, Hayashida CY, Santagata S, Barontini M, Kung AL, Sanso G, Powers JF, Tischler AS, Hodin R, Heitritter S, Moore F, Dluhy R, Sosa JA, Ocal IT, Benn DE, Marsh DJ, Robinson BG, Schneider K, Garber J, Arum SM, Korbonits M, Grossman A, Pigny P, Toledo SP, Nosé V, Li C, Stiles CD. Dahia PL, et al. Among authors: pigny p. PLoS Genet. 2005 Jul;1(1):72-80. doi: 10.1371/journal.pgen.0010008. Epub 2005 Jul 25. PLoS Genet. 2005. PMID: 16103922 Free PMC article.
157 results