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Page 1
Germline mutations in the new E1' cryptic exon of the VHL gene in patients with tumours of von Hippel-Lindau disease spectrum or with paraganglioma.
Buffet A, Calsina B, Flores S, Giraud S, Lenglet M, Romanet P, Deflorenne E, Aller J, Bourdeau I, Bressac-de Paillerets B, Calatayud M, Dehais C, De Mones Del Pujol E, Elenkova A, Herman P, Kamenický P, Lejeune S, Sadoul JL, Barlier A, Richard S, Favier J, Burnichon N, Gardie B, Dahia PL, Robledo M, Gimenez-Roqueplo AP. Buffet A, et al. Among authors: kamenicky p. J Med Genet. 2020 Nov;57(11):752-759. doi: 10.1136/jmedgenet-2019-106519. Epub 2020 Jan 29. J Med Genet. 2020. PMID: 31996412 Free PMC article.
High prevalence of venous thrombotic events in Cushing's syndrome: data from ERCUSYN and details in relation to surgery.
Isand K, Feelders R, Brue T, Toth M, Deutschbein T, Reincke M, Kršek M, Santos A, Demtröder F, Chabre O, Strasburger CJ, Aulinas Maso A, Volke V, Pereira AM, Lohmann R, Gich Saladich I; Ercusyn Study Group; Webb SM, Wass J, Valassi E. Isand K, et al. Eur J Endocrinol. 2024 Jan 3;190(1):75-85. doi: 10.1093/ejendo/lvad176. Eur J Endocrinol. 2024. PMID: 38146835 Free article.
The European Registry on Cushing's syndrome: 2-year experience. Baseline demographic and clinical characteristics.
Valassi E, Santos A, Yaneva M, Tóth M, Strasburger CJ, Chanson P, Wass JA, Chabre O, Pfeifer M, Feelders RA, Tsagarakis S, Trainer PJ, Franz H, Zopf K, Zacharieva S, Lamberts SW, Tabarin A, Webb SM; ERCUSYN Study Group. Valassi E, et al. Eur J Endocrinol. 2011 Sep;165(3):383-92. doi: 10.1530/EJE-11-0272. Epub 2011 Jun 29. Eur J Endocrinol. 2011. PMID: 21715416
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: kamenicky p. Int J Mol Sci. 2021 Jul 15;22(14):7570. doi: 10.3390/ijms22147570. Int J Mol Sci. 2021. PMID: 34299200 Free PMC article.
Adrenal GIPR expression and chromosome 19q13 microduplications in GIP-dependent Cushing's syndrome.
Lecoq AL, Stratakis CA, Viengchareun S, Chaligné R, Tosca L, Deméocq V, Hage M, Berthon A, Faucz FR, Hanna P, Boyer HG, Servant N, Salenave S, Tachdjian G, Adam C, Benhamo V, Clauser E, Guiochon-Mantel A, Young J, Lombès M, Bourdeau I, Maiter D, Tabarin A, Bertherat J, Lefebvre H, de Herder W, Louiset E, Lacroix A, Chanson P, Bouligand J, Kamenický P. Lecoq AL, et al. Among authors: kamenicky p. JCI Insight. 2017 Sep 21;2(18):e92184. doi: 10.1172/jci.insight.92184. eCollection 2017 Sep 21. JCI Insight. 2017. PMID: 28931750 Free PMC article.
Loss of KDM1A in GIP-dependent primary bilateral macronodular adrenal hyperplasia with Cushing's syndrome: a multicentre, retrospective, cohort study.
Chasseloup F, Bourdeau I, Tabarin A, Regazzo D, Dumontet C, Ladurelle N, Tosca L, Amazit L, Proust A, Scharfmann R, Mignot T, Fiore F, Tsagarakis S, Vassiliadi D, Maiter D, Young J, Lecoq AL, Deméocq V, Salenave S, Lefebvre H, Cloix L, Emy P, Dessailloud R, Vezzosi D, Scaroni C, Barbot M, de Herder W, Pattou F, Tétreault M, Corbeil G, Dupeux M, Lambert B, Tachdjian G, Guiochon-Mantel A, Beau I, Chanson P, Viengchareun S, Lacroix A, Bouligand J, Kamenický P. Chasseloup F, et al. Among authors: kamenicky p. Lancet Diabetes Endocrinol. 2021 Dec;9(12):813-824. doi: 10.1016/S2213-8587(21)00236-9. Epub 2021 Oct 13. Lancet Diabetes Endocrinol. 2021. PMID: 34655521
Galaxy Is a Suitable Bioinformatics Platform for the Molecular Diagnosis of Human Genetic Disorders Using High-Throughput Sequencing Data Analysis: Five Years of Experience in a Clinical Laboratory.
Chappell K, Francou B, Habib C, Huby T, Leoni M, Cottin A, Nadal F, Adnet E, Paoli E, Oliveira C, Verstuyft C, Davit-Spraul A, Gaignard P, Lebigot E, Duclos-Vallee JC, Young J, Kamenicky P, Adams D, Echaniz-Laguna A, Gonzales E, Bouvattier C, Linglart A, Picard V, Bergoin E, Jacquemin E, Guiochon-Mantel A, Proust A, Bouligand J. Chappell K, et al. Among authors: kamenicky p. Clin Chem. 2022 Feb 1;68(2):313-321. doi: 10.1093/clinchem/hvab220. Clin Chem. 2022. PMID: 34871369
117 results