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Page 1
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.
Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma.
Burnichon N, Buffet A, Parfait B, Letouzé E, Laurendeau I, Loriot C, Pasmant E, Abermil N, Valeyrie-Allanore L, Bertherat J, Amar L, Vidaud D, Favier J, Gimenez-Roqueplo AP. Burnichon N, et al. Among authors: pasmant e. Hum Mol Genet. 2012 Dec 15;21(26):5397-405. doi: 10.1093/hmg/dds374. Epub 2012 Sep 6. Hum Mol Genet. 2012. PMID: 22962301
Calling Chromosome Alterations, DNA Methylation Statuses, and Mutations in Tumors by Simple Targeted Next-Generation Sequencing: A Solution for Transferring Integrated Pangenomic Studies into Routine Practice?
Garinet S, Néou M, de La Villéon B, Faillot S, Sakat J, Da Fonseca JP, Jouinot A, Le Tourneau C, Kamal M, Luscap-Rondof W, Boeva V, Gaujoux S, Vidaud M, Pasmant E, Letourneur F, Bertherat J, Assié G. Garinet S, et al. Among authors: pasmant e. J Mol Diagn. 2017 Sep;19(5):776-787. doi: 10.1016/j.jmoldx.2017.06.005. J Mol Diagn. 2017. PMID: 28826610 Free article.
Detection and monitoring of circulating tumor DNA in adrenocortical carcinoma.
Garinet S, Nectoux J, Neou M, Pasmant E, Jouinot A, Sibony M, Orhant L, Pipoli da Fonseca J, Perlemoine K, Bricaire L, Groussin L, Soubrane O, Dousset B, Libe R, Letourneur F, Bertherat J, Assié G. Garinet S, et al. Among authors: pasmant e. Endocr Relat Cancer. 2018 Mar;25(3):L13-L17. doi: 10.1530/ERC-17-0467. Epub 2017 Dec 6. Endocr Relat Cancer. 2018. PMID: 29212777 No abstract available.
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
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
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.
115 results