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191 results

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Page 1
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: barlier a. J Med Genet. 2024 Mar 21;61(4):378-384. doi: 10.1136/jmg-2023-109550. J Med Genet. 2024. PMID: 37979962 Review.
European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study.
Garin I, Mantovani G, Aguirre U, Barlier A, Brix B, Elli FM, Freson K, Grybek V, Izzi B, Linglart A, Perez de Nanclares G, Silve C, Thiele S, Werner R; EuroPHP Consortium. Garin I, et al. Among authors: barlier a. Eur J Hum Genet. 2015 Apr;23(4):438-44. doi: 10.1038/ejhg.2014.127. Epub 2014 Jul 9. Eur J Hum Genet. 2015. PMID: 25005735 Free PMC article.
A cohort study of CNS tumors in Multiple Endocrine Neoplasia Type 1.
Graillon T, Romanet P, Camilla C, Gelin C, Appay R, Roche C, Lagarde A, Mougel G, Farah K, Le Bras M, Engelhardt J, Kalamarides M, Peyre M, Amelot A, Emery E, Magro E, Cebula H, Aboukais R, Bauters C, Jouanneau E, Berhouma M, Cuny T, Dufour H, Loiseau H, Figarella-Branger D, Bauchet L, Binquet C, Barlier A, Goudet P. Graillon T, et al. Among authors: barlier a. Clin Cancer Res. 2024 Apr 17. doi: 10.1158/1078-0432.CCR-23-3308. Online ahead of print. Clin Cancer Res. 2024. PMID: 38630553
Beyond MEN1, when to think about MEN4? Retrospective study on 5600 patients in the French population & literature review.
Chevalier B, Coppin L, Romanet P, Cuny T, Maiza JC, Abeillon J, Forestier J, Walter T, Gilly O, Le Bras M, Smati S, Nunes ML, Geslot A, Grunenwald S, Mouly C, Arnault G, Wagner K, Koumakis E, Cortet-Rudelli C, Merlen É, Jannin A, Espiard S, Morange I, Baudin É, Cavaille M, Tauveron I, Teissier MP, Borson-Chazot F, Mirebeau-Prunier D, Savagner F, Pasmant É, Giraud S, Vantyghem MC, Goudet P, Barlier A, Cardot-Bauters C, Odou MF. Chevalier B, et al. Among authors: barlier a. J Clin Endocrinol Metab. 2024 Jan 30:dgae055. doi: 10.1210/clinem/dgae055. Online ahead of print. J Clin Endocrinol Metab. 2024. PMID: 38288531
Radio-chemotherapy feasibility for biopsy-only unresectable IDH wild-type glioblastomas (BO-GBM).
Harlay V, Appay R, Bequet C, Petrirena G, Campello C, Barrié M, Autran D, Graillon T, Boissonneau S, Dufour H, Figarella-Branger D, Padovani L, Barlier A, Nanni I, Tabouret E, Chinot O. Harlay V, et al. Among authors: barlier a. Neurooncol Pract. 2023 May 30;10(6):536-543. doi: 10.1093/nop/npad028. eCollection 2023 Dec. Neurooncol Pract. 2023. PMID: 38009116 Free article.
Genetic testing in prolactinomas: a cohort study.
Boukerrouni A, Cuny T, Anjou T, Raingeard I, Ferrière A, Grunenwald S, Maïza JC, Marquant E, Sahakian N, Fodil-Cherif S, Salle L, Niccoli P, Randrianaivo H, Sonnet E, Chevalier N, Thuillier P, Vezzosi D, Reynaud R, Dufour H, Brue T, Tabarin A, Delemer B, Kerlan V, Castinetti F, Barlier A, Romanet P. Boukerrouni A, et al. Among authors: barlier a. Eur J Endocrinol. 2023 Dec 6;189(6):567-574. doi: 10.1093/ejendo/lvad148. Eur J Endocrinol. 2023. PMID: 37956455
French guidelines from the GTE, AFCE and ENDOCAN-RENATEN (Groupe d'étude des Tumeurs Endocrines/Association Francophone de Chirurgie Endocrinienne/Reseau national de prise en charge des tumeurs endocrines) for the screening, diagnosis and management of Multiple Endocrine Neoplasia Type 1.
Goudet P, Cadiot G, Barlier A, Baudin E, Borson-Chazot F, Brunaud L, Caiazzo R, Cardot-Bauters C, Castinetti F, Chanson P, Cuny T, Dansin E, Gaujoux S, Giraud S, Groussin L, Le Bras M, Lifante JC, Mathonnet M, de Mestier L, Mirallié E, Pattou F, Romanet P, Sebag F, Tresallet C, Vezzosi D, Walter T, Tabarin A. Goudet P, et al. Among authors: barlier a. Ann Endocrinol (Paris). 2024 Feb;85(1):2-19. doi: 10.1016/j.ando.2023.09.003. Epub 2023 Sep 20. Ann Endocrinol (Paris). 2024. PMID: 37739121 No abstract available.
The clinical and therapeutic profiles of prolactinomas associated with germline pathogenic variants in the aryl hydrocarbon receptor interacting protein (AIP) gene.
Vroonen L, Beckers A, Camby S, Cuny T, Beckers P, Jaffrain-Rea ML, Cogne M, Naves L, Ferriere A, Romanet P, Elenkova A, Karhu A, Brue T, Barlier A, Pétrossians P, Daly AF. Vroonen L, et al. Among authors: barlier a. Front Endocrinol (Lausanne). 2023 Aug 29;14:1242588. doi: 10.3389/fendo.2023.1242588. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37711900 Free PMC article.
Editorial: New insights into multiple endocrine neoplasia type 1.
Barlier A, Romanet P, Pellegata NS. Barlier A, et al. Front Endocrinol (Lausanne). 2023 Aug 11;14:1266148. doi: 10.3389/fendo.2023.1266148. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37635979 Free PMC article. No abstract available.
Gene fusions in poroma, porocarcinoma and related adnexal skin tumours: An update.
Kervarrec T, Pissaloux D, Tirode F, de la Fouchardière A, Sohier P, Frouin E, Hamard A, Houben R, Schrama D, Barlier A, Cribier B, Battistella M, Macagno N. Kervarrec T, et al. Among authors: barlier a. Histopathology. 2024 Jan;84(2):266-278. doi: 10.1111/his.15023. Epub 2023 Aug 23. Histopathology. 2024. PMID: 37609771 Review.
191 results