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Multiple endocrine neoplasia type 1 caused by mosaic mutation: clinical follow-up and genetic counseling?
Coppin L, Giraud S, Pasmant E, Lagarde A, North MO, Le-Collen L, Aubert V, Mougel G, Ladsous M, Louboutin A, Brixi H, Haissaguerre M, Scheyer N, Klein M, Tabarin A, Delemer B, Barlier A, Odou MF, Romanet P. Coppin L, et al. Among authors: pasmant e. Eur J Endocrinol. 2022 May 24;187(1):K1-K6. doi: 10.1530/EJE-22-0171. Eur J Endocrinol. 2022. PMID: 35521764 Review.
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: pasmant e. 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
Noninvasive Prenatal Diagnosis of a Paternally Inherited MEN1 Pathogenic Splicing Variant.
Huby T, Le Guillou E, Burin des Roziers C, Pacot L, Briand-Suleau A, Chansavang A, Toussaint A, Duchossoy V, Vaucouleur N, Benoit V, Lodé L, Molac C, North MO, Grotto S, Tsatsaris V, Jouinot A, Cochand-Priollet B, Paepegaey AC, Nectoux J, Groussin L, Pasmant E. Huby T, et al. Among authors: pasmant e. J Clin Endocrinol Metab. 2022 Mar 24;107(4):e1367-e1373. doi: 10.1210/clinem/dgab894. J Clin Endocrinol Metab. 2022. PMID: 34897474
KDM1A inactivation causes hereditary food-dependent Cushing syndrome.
Vaczlavik A, Bouys L, Violon F, Giannone G, Jouinot A, Armignacco R, Cavalcante IP, Berthon A, Letouzé E, Vaduva P, Barat M, Bonnet F, Perlemoine K, Ribes C, Sibony M, North MO, Espiard S, Emy P, Haissaguerre M, Tauveron I, Guignat L, Groussin L, Dousset B, Reincke M, Fragoso MC, Stratakis CA, Pasmant E, Libé R, Assié G, Ragazzon B, Bertherat J. Vaczlavik A, et al. Among authors: pasmant e. Genet Med. 2022 Feb;24(2):374-383. doi: 10.1016/j.gim.2021.09.018. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906447 Free article.
Transcriptome in paraffin samples for the diagnosis and prognosis of adrenocortical carcinoma.
Jouinot A, Lippert J, Sibony M, Violon F, Jeanpierre L, De Murat D, Armignacco R, Septier A, Perlemoine K, Letourneur F, Izac B, Ragazzon B, Leroy K, Pasmant E, North MO, Gaujoux S, Dousset B, Groussin L, Libe R, Terris B, Fassnacht M, Ronchi CL, Bertherat J, Assie G. Jouinot A, et al. Among authors: pasmant e. Eur J Endocrinol. 2022 Apr 21;186(6):607-617. doi: 10.1530/EJE-21-1228. Eur J Endocrinol. 2022. PMID: 35266879 Free PMC article.
Identification of predictive criteria for pathogenic variants of primary bilateral macronodular adrenal hyperplasia (PBMAH) gene ARMC5 in 352 unselected patients.
Bouys L, Vaczlavik A, Jouinot A, Vaduva P, Espiard S, Assié G, Libé R, Perlemoine K, Ragazzon B, Guignat L, Groussin L, Bricaire L, Cavalcante IP, Bonnet-Serrano F, Lefebvre H, Raffin-Sanson ML, Chevalier N, Touraine P, Jublanc C, Vatier C, Raverot G, Haissaguerre M, Maione L, Kroiss M, Fassnacht M, Christin-Maitre S, Pasmant E, Borson-Chazot F, Tabarin A, Vantyghem MC, Reincke M, Kamenicky P, North MO, Bertherat J. Bouys L, et al. Among authors: pasmant e. Eur J Endocrinol. 2022 May 24;187(1):123-134. doi: 10.1530/EJE-21-1032. Eur J Endocrinol. 2022. PMID: 35521700
115 results