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Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies.
Szabó T, Orosz P, Balogh E, Jávorszky E, Máttyus I, Bereczki C, Maróti Z, Kalmár T, Szabó AJ, Reusz G, Várkonyi I, Marián E, Gombos É, Orosz O, Madar L, Balla G, Kappelmayer J, Tory K, Balogh I. Szabó T, et al. Among authors: gombos e. Pediatr Nephrol. 2018 Oct;33(10):1713-1721. doi: 10.1007/s00467-018-3992-5. Epub 2018 Jun 28. Pediatr Nephrol. 2018. PMID: 29956005
Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations.
Kidd K, Vylet'al P, Schaeffer C, Olinger E, Živná M, Hodaňová K, Robins V, Johnson E, Taylor A, Martin L, Izzi C, Jorge SC, Calado J, Torres RJ, Lhotta K, Steubl D, Gale DP, Gast C, Gombos E, Ainsworth HC, Chen YM, Almeida JR, de Souza CF, Silveira C, Raposeiro R, Weller N, Conlon PJ, Murray SL, Benson KA, Cavalleri GL, Votruba M, Vrbacká A, Amoroso A, Gianchino D, Caridi G, Ghiggeri GM, Divers J, Scolari F, Devuyst O, Rampoldi L, Kmoch S, Bleyer AJ. Kidd K, et al. Among authors: gombos e. Kidney Int Rep. 2020 Jul 3;5(9):1472-1485. doi: 10.1016/j.ekir.2020.06.029. eCollection 2020 Sep. Kidney Int Rep. 2020. PMID: 32954071 Free PMC article.
Multicenter automated central vein sign detection performs as well as manual assessment for the diagnosis of multiple sclerosis.
Manning AR, Letchuman V, Martin ML, Gombos E, Roberts-Fitzgerald T, Cao Q, Raza P, O'Donnell CM, Renner B, Daboul L, Rodrigues P, Ramos M, Derbyshire J, Azevedo C, Bar-Or A, Caverzasi E, Calabresi PA, Cree BA, Freeman L, Henry RG, Longbrake EE, Oh J, Papinutto N, Pelletier D, Samudralwar RD, Suthiphosuwan S, Schindler MK, Bilello M, Song JW, Sotirchos ES, Sicotte NL, Al-Louzi O, Solomon AJ, Reich DS, Ontaneda D, Sati P, Shinohara RT; NAIMS Cooperative. Manning AR, et al. Among authors: gombos e. AJNR Am J Neuroradiol. 2024 Sep 27:ajnr.A8510. doi: 10.3174/ajnr.A8510. Online ahead of print. AJNR Am J Neuroradiol. 2024. PMID: 39332906
76 results