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Germline Mutations in the Mitochondrial 2-Oxoglutarate/Malate Carrier SLC25A11 Gene Confer a Predisposition to Metastatic Paragangliomas.
Buffet A, Morin A, Castro-Vega LJ, Habarou F, Lussey-Lepoutre C, Letouzé E, Lefebvre H, Guilhem I, Haissaguerre M, Raingeard I, Padilla-Girola M, Tran T, Tchara L, Bertherat J, Amar L, Ottolenghi C, Burnichon N, Gimenez-Roqueplo AP, Favier J. Buffet A, et al. Among authors: guilhem i. Cancer Res. 2018 Apr 15;78(8):1914-1922. doi: 10.1158/0008-5472.CAN-17-2463. Epub 2018 Feb 5. Cancer Res. 2018. PMID: 29431636
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: guilhem i. 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
Risk assessment of maternally inherited SDHD paraganglioma and phaeochromocytoma.
Burnichon N, Mazzella JM, Drui D, Amar L, Bertherat J, Coupier I, Delemer B, Guilhem I, Herman P, Kerlan V, Tabarin A, Wion N, Lahlou-Laforet K, Favier J, Gimenez-Roqueplo AP. Burnichon N, et al. Among authors: guilhem i. J Med Genet. 2017 Feb;54(2):125-133. doi: 10.1136/jmedgenet-2016-104297. Epub 2016 Nov 17. J Med Genet. 2017. PMID: 27856506
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: guilhem i. 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
Pituitary adenoma in patients with multiple endocrine neoplasia type 1: a cohort study.
Le Bras M, Leclerc H, Rousseau O, Goudet P, Cuny T, Castinetti F, Bauters C, Chanson P, Tabarin A, Gaujoux S, Christin-Maitre S, Ruszniewski P, Borson-Chazot F, Guilhem I, Caron P, Goichot B, Beckers A, Delemer B, Raingeard I, Vergès B, Smati S, Wargny M, Cariou B, Hadjadj S. Le Bras M, et al. Among authors: guilhem i. Eur J Endocrinol. 2021 Nov 26;185(6):863-873. doi: 10.1530/EJE-21-0630. Eur J Endocrinol. 2021. PMID: 34636744 Free article.
Unraveling the intrafamilial correlations and heritability of tumor types in MEN1: a Groupe d'étude des Tumeurs Endocrines study.
Thevenon J, Bourredjem A, Faivre L, Cardot-Bauters C, Calender A, Le Bras M, Giraud S, Niccoli P, Odou MF, Borson-Chazot F, Barlier A, Lombard-Bohas C, Clauser E, Tabarin A, Pasmant E, Chabre O, Castermans E, Ruszniewski P, Bertherat J, Delemer B, Christin-Maitre S, Beckers A, Guilhem I, Rohmer V, Goichot B, Caron P, Baudin E, Chanson P, Groussin L, Du Boullay H, Weryha G, Lecomte P, Schillo F, Bihan H, Archambeaud F, Kerlan V, Bourcigaux N, Kuhn JM, Vergès B, Rodier M, Renard M, Sadoul JL, Binquet C, Goudet P. Thevenon J, et al. Among authors: guilhem i. Eur J Endocrinol. 2015 Dec;173(6):819-26. doi: 10.1530/EJE-15-0691. Epub 2015 Sep 21. Eur J Endocrinol. 2015. PMID: 26392472
Higher risk of death among MEN1 patients with mutations in the JunD interacting domain: a Groupe d'etude des Tumeurs Endocrines (GTE) cohort study.
Thevenon J, Bourredjem A, Faivre L, Cardot-Bauters C, Calender A, Murat A, Giraud S, Niccoli P, Odou MF, Borson-Chazot F, Barlier A, Lombard-Bohas C, Clauser E, Tabarin A, Parfait B, Chabre O, Castermans E, Beckers A, Ruszniewski P, Le Bras M, Delemer B, Bouchard P, Guilhem I, Rohmer V, Goichot B, Caron P, Baudin E, Chanson P, Groussin L, Du Boullay H, Weryha G, Lecomte P, Penfornis A, Bihan H, Archambeaud F, Kerlan V, Duron F, Kuhn JM, Vergès B, Rodier M, Renard M, Sadoul JL, Binquet C, Goudet P. Thevenon J, et al. Among authors: guilhem i. Hum Mol Genet. 2013 May 15;22(10):1940-8. doi: 10.1093/hmg/ddt039. Epub 2013 Jan 31. Hum Mol Genet. 2013. PMID: 23376981 Free article. Clinical Trial.
Histologically Proven Bronchial Neuroendocrine Tumors in MEN1: A GTE 51-Case Cohort Study.
Lecomte P, Binquet C, Le Bras M, Tabarin A, Cardot-Bauters C, Borson-Chazot F, Lombard-Bohas C, Baudin E, Delemer B, Klein M, Vergès B, Aparicio T, Cosson E, Beckers A, Caron P, Chabre O, Chanson P, Du Boullay H, Guilhem I, Niccoli P, Rohmer V, Guigay J, Vulpoi C, Scoazec JY, Goudet P. Lecomte P, et al. Among authors: guilhem i. World J Surg. 2018 Jan;42(1):143-152. doi: 10.1007/s00268-017-4135-z. World J Surg. 2018. PMID: 28785839
49 results