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Page 1
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.
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
Does the RET variant G691S influence the features of sporadic medullary thyroid carcinoma?
Cardot-Bauters C, Leteurtre E, Leclerc L, Vantyghem MC, Do Cao C, Wemeau JL, d'Herbomez M, Carnaille B, Barbu V, Pinson S, Pigny P; Groupe d'Etude des Tumeurs Endocrines (GTE). Cardot-Bauters C, et al. Among authors: pigny p. Clin Endocrinol (Oxf). 2008 Sep;69(3):506-10. doi: 10.1111/j.1365-2265.2008.03230.x. Epub 2008 Mar 10. Clin Endocrinol (Oxf). 2008. PMID: 18331611
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
Nationwide French Study of RET Variants Detected from 2003 to 2013 Suggests a Possible Influence of Polymorphisms as Modifiers.
Lebeault M, Pinson S, Guillaud-Bataille M, Gimenez-Roqueplo AP, Carrie A, Barbu V, Pigny P, Bezieau S, Rey JM, Delvincourt C, Giraud S, Veyrat-Durebex C, Saulnier P, Bouzamondo N, Chabbert M, Blin J, Mohamed A, Romanet P, Borson-Chazot F, Rohmer V, Barlier A, Mirebeau-Prunier D. Lebeault M, et al. Among authors: pigny p. Thyroid. 2017 Dec;27(12):1511-1522. doi: 10.1089/thy.2016.0399. Epub 2017 Nov 3. Thyroid. 2017. PMID: 28946813
Targeted next-generation sequencing detects rare genetic events in pheochromocytoma and paraganglioma.
Ben Aim L, Pigny P, Castro-Vega LJ, Buffet A, Amar L, Bertherat J, Drui D, Guilhem I, Baudin E, Lussey-Lepoutre C, Corsini C, Chabrier G, Briet C, Faivre L, Cardot-Bauters C, Favier J, Gimenez-Roqueplo AP, Burnichon N. Ben Aim L, et al. Among authors: pigny p. J Med Genet. 2019 Aug;56(8):513-520. doi: 10.1136/jmedgenet-2018-105714. Epub 2019 Mar 15. J Med Genet. 2019. PMID: 30877234
Genetic predisposition to neural crest-derived tumors: revisiting the role of KIF1B.
Cardot Bauters C, Leteurtre E, Carnaille B, Do Cao C, Espiard S, Penven M, Destailleur E, Szuster I, Lovecchio T, Leclerc J, Frénois F, Esquivel E, Dahia PLM, Ait-Yahya E, Crépin M, Pigny P. Cardot Bauters C, et al. Among authors: pigny p. Endocr Connect. 2020 Oct;9(10):1042-1050. doi: 10.1530/EC-20-0460. Endocr Connect. 2020. PMID: 33112832 Free PMC article.
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.
Update of the UMD-VHL database: classification of 164 challenging variants based on genotype-phenotype correlation among 605 entries.
Mougel G, Mohamed A, Burnichon N, Giraud S, Pigny P, Bressac-de Paillerets B, Mirebeau-Prunier D, Buffet A, Savagner F, Romanet P, Arlot Y, Gardie B, Gimenez-Roqueplo AP, Beroud C, Richard S, Barlier A. Mougel G, et al. Among authors: pigny p. J Med Genet. 2024 Mar 21;61(4):378-384. doi: 10.1136/jmg-2023-109550. J Med Genet. 2024. PMID: 37979962 Review.
157 results