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Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study.
Iacovazzo D, Caswell R, Bunce B, Jose S, Yuan B, Hernández-Ramírez LC, Kapur S, Caimari F, Evanson J, Ferraù F, Dang MN, Gabrovska P, Larkin SJ, Ansorge O, Rodd C, Vance ML, Ramírez-Renteria C, Mercado M, Goldstone AP, Buchfelder M, Burren CP, Gurlek A, Dutta P, Choong CS, Cheetham T, Trivellin G, Stratakis CA, Lopes MB, Grossman AB, Trouillas J, Lupski JR, Ellard S, Sampson JR, Roncaroli F, Korbonits M. Iacovazzo D, et al. Among authors: buchfelder m. Acta Neuropathol Commun. 2016 Jun 1;4(1):56. doi: 10.1186/s40478-016-0328-1. Acta Neuropathol Commun. 2016. PMID: 27245663 Free PMC article.
Landscape of Familial Isolated and Young-Onset Pituitary Adenomas: Prospective Diagnosis in AIP Mutation Carriers.
Hernández-Ramírez LC, Gabrovska P, Dénes J, Stals K, Trivellin G, Tilley D, Ferrau F, Evanson J, Ellard S, Grossman AB, Roncaroli F, Gadelha MR, Korbonits M; International FIPA Consortium. Hernández-Ramírez LC, et al. J Clin Endocrinol Metab. 2015 Sep;100(9):E1242-54. doi: 10.1210/jc.2015-1869. J Clin Endocrinol Metab. 2015. PMID: 26186299 Free PMC article.
The Gene of the Ubiquitin-Specific Protease 8 Is Frequently Mutated in Adenomas Causing Cushing's Disease.
Perez-Rivas LG, Theodoropoulou M, Ferraù F, Nusser C, Kawaguchi K, Stratakis CA, Faucz FR, Wildemberg LE, Assié G, Beschorner R, Dimopoulou C, Buchfelder M, Popovic V, Berr CM, Tóth M, Ardisasmita AI, Honegger J, Bertherat J, Gadelha MR, Beuschlein F, Stalla G, Komada M, Korbonits M, Reincke M. Perez-Rivas LG, et al. Among authors: buchfelder m. J Clin Endocrinol Metab. 2015 Jul;100(7):E997-1004. doi: 10.1210/jc.2015-1453. Epub 2015 May 5. J Clin Endocrinol Metab. 2015. PMID: 25942478 Free PMC article.
Clinical review: Diagnosis and management of pituitary carcinomas.
Kaltsas GA, Nomikos P, Kontogeorgos G, Buchfelder M, Grossman AB. Kaltsas GA, et al. Among authors: buchfelder m. J Clin Endocrinol Metab. 2005 May;90(5):3089-99. doi: 10.1210/jc.2004-2231. Epub 2005 Mar 1. J Clin Endocrinol Metab. 2005. PMID: 15741248 Review.
Adamantinomatous and papillary craniopharyngiomas are characterized by distinct epigenomic as well as mutational and transcriptomic profiles.
Hölsken A, Sill M, Merkle J, Schweizer L, Buchfelder M, Flitsch J, Fahlbusch R, Metzler M, Kool M, Pfister SM, von Deimling A, Capper D, Jones DT, Buslei R. Hölsken A, et al. Among authors: buchfelder m. Acta Neuropathol Commun. 2016 Feb 29;4:20. doi: 10.1186/s40478-016-0287-6. Acta Neuropathol Commun. 2016. PMID: 26927026 Free PMC article.
Somatic USP8 mutations are frequent events in corticotroph tumor progression causing Nelson's tumor.
Pérez-Rivas LG, Theodoropoulou M, Puar TH, Fazel J, Stieg MR, Ferraù F, Assié G, Gadelha MR, Deutschbein T, Fragoso MC, Kusters B, Saeger W, Honegger J, Buchfelder M, Korbonits M, Bertherat J, Stalla GK, Hermus AR, Beuschlein F, Reincke M. Pérez-Rivas LG, et al. Among authors: buchfelder m. Eur J Endocrinol. 2018 Jan;178(1):57-63. doi: 10.1530/EJE-17-0634. Epub 2017 Oct 5. Eur J Endocrinol. 2018. PMID: 28982703
Corticotroph tumor progression after bilateral adrenalectomy (Nelson's syndrome): systematic review and expert consensus recommendations.
Reincke M, Albani A, Assie G, Bancos I, Brue T, Buchfelder M, Chabre O, Ceccato F, Daniele A, Detomas M, Di Dalmazi G, Elenkova A, Findling J, Grossman AB, Gomez-Sanchez CE, Heaney AP, Honegger J, Karavitaki N, Lacroix A, Laws ER, Losa M, Murakami M, Newell-Price J, Pecori Giraldi F, Pérez-Rivas LG, Pivonello R, Rainey WE, Sbiera S, Schopohl J, Stratakis CA, Theodoropoulou M, van Rossum EFC, Valassi E, Zacharieva S, Rubinstein G, Ritzel K. Reincke M, et al. Among authors: buchfelder m. Eur J Endocrinol. 2021 Mar;184(3):P1-P16. doi: 10.1530/EJE-20-1088. Eur J Endocrinol. 2021. PMID: 33444221 Free PMC article.
Neuropathologic measurements in focal cortical dysplasias: validation of the ILAE 2011 classification system and diagnostic implications for MRI.
Mühlebner A, Coras R, Kobow K, Feucht M, Czech T, Stefan H, Weigel D, Buchfelder M, Holthausen H, Pieper T, Kudernatsch M, Blümcke I. Mühlebner A, et al. Among authors: buchfelder m. Acta Neuropathol. 2012 Feb;123(2):259-72. doi: 10.1007/s00401-011-0920-1. Epub 2011 Nov 27. Acta Neuropathol. 2012. PMID: 22120580
602 results