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2020 2
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2022 6
2023 2
2024 2

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14 results

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Page 1
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: mougel g. Eur J Endocrinol. 2022 May 24;187(1):K1-K6. doi: 10.1530/EJE-22-0171. Eur J Endocrinol. 2022. PMID: 35521764 Review.
Somatotroph Tumors and the Epigenetic Status of the GNAS Locus.
Romanet P, Galluso J, Kamenicky P, Hage M, Theodoropoulou M, Roche C, Graillon T, Etchevers HC, De Murat D, Mougel G, Figarella-Branger D, Dufour H, Cuny T, Assié G, Barlier A. Romanet P, et al. Among authors: mougel g. Int J Mol Sci. 2021 Jul 15;22(14):7570. doi: 10.3390/ijms22147570. Int J Mol Sci. 2021. PMID: 34299200 Free PMC article.
IGSF1 mutations are the most frequent genetic aetiology of thyrotropin deficiency.
Fourneaux R, Reynaud R, Mougel G, Castets S, Bretones P, Dauriat B, Edouard T, Raverot G, Barlier A, Brue T, Castinetti F, Saveanu A. Fourneaux R, et al. Among authors: mougel g. Eur J Endocrinol. 2022 Nov 3;187(6):787-795. doi: 10.1530/EJE-22-0520. Print 2022 Dec 1. Eur J Endocrinol. 2022. PMID: 36201163
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. J Med Genet. 2024 Mar 21;61(4):378-384. doi: 10.1136/jmg-2023-109550. J Med Genet. 2024. PMID: 37979962 Review.
Systematic detection of mosaicism by using digital NGS reveals three new MEN1 mosaicisms.
Lagarde A, Mougel G, Coppin L, Haissaguerre M, Le Collen L, Mohamed A, Klein M, Odou MF, Tabarin A, Brixi H, Cuny T, Delemer B, Barlier A, Romanet P. Lagarde A, et al. Among authors: mougel g. Endocr Connect. 2022 Oct 14;11(11):e220093. doi: 10.1530/EC-22-0093. Print 2022 Nov 1. Endocr Connect. 2022. PMID: 36112497 Free PMC article.
Brief CommunicationCirculating tumor DNA is present in the most aggressive meningiomas.
Graillon T, Roche C, Basset N, Mougel G, Meyer M, Farah K, Boissonneau S, Fuentes S, Tabouret E, Campello C, Appay R, Figarella-Branger D, Chinot O, Dufour H, Romanet P, Barlier A. Graillon T, et al. Among authors: mougel g. Neurooncol Adv. 2020 Jun 7;2(1):vdaa068. doi: 10.1093/noajnl/vdaa068. eCollection 2020 Jan-Dec. Neurooncol Adv. 2020. PMID: 32642718 Free PMC article. No abstract available.
14 results