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Page 1
The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centers.
Tylki-Szymańska A, Almássy Z, Christophidou-Anastasiadou V, Avdjieva-Tzavella D, Barisic I, Cerkauskiene R, Cuturilo G, Djiordjevic M, Gucev Z, Hlavata A, Kieć-Wilk B, Magner M, Pecin I, Plaiasu V, Samardzic M, Zafeiriou D, Zaganas I, Lampe C. Tylki-Szymańska A, et al. Among authors: cerkauskiene r. Orphanet J Rare Dis. 2022 Mar 24;17(1):136. doi: 10.1186/s13023-022-02285-x. Orphanet J Rare Dis. 2022. PMID: 35331284 Free PMC article.
Guidelines for Genetic Testing and Management of Alport Syndrome.
Savige J, Lipska-Zietkiewicz BS, Watson E, Hertz JM, Deltas C, Mari F, Hilbert P, Plevova P, Byers P, Cerkauskaite A, Gregory M, Cerkauskiene R, Ljubanovic DG, Becherucci F, Errichiello C, Massella L, Aiello V, Lennon R, Hopkinson L, Koziell A, Lungu A, Rothe HM, Hoefele J, Zacchia M, Martic TN, Gupta A, van Eerde A, Gear S, Landini S, Palazzo V, Al-Rabadi L, Claes K, Corveleyn A, Van Hoof E, van Geel M, Williams M, Ashton E, Belge H, Ars E, Bierzynska A, Gangemi C, Renieri A, Storey H, Flinter F. Savige J, et al. Among authors: cerkauskiene r. Clin J Am Soc Nephrol. 2022 Jan;17(1):143-154. doi: 10.2215/CJN.04230321. Epub 2021 Dec 20. Clin J Am Soc Nephrol. 2022. PMID: 34930753 Free PMC article.
Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria.
Savige J, Storey H, Watson E, Hertz JM, Deltas C, Renieri A, Mari F, Hilbert P, Plevova P, Byers P, Cerkauskaite A, Gregory M, Cerkauskiene R, Ljubanovic DG, Becherucci F, Errichiello C, Massella L, Aiello V, Lennon R, Hopkinson L, Koziell A, Lungu A, Rothe HM, Hoefele J, Zacchia M, Martic TN, Gupta A, van Eerde A, Gear S, Landini S, Palazzo V, Al-Rabadi L, Claes K, Corveleyn A, Van Hoof E, van Geel M, Williams M, Ashton E, Belge H, Ars E, Bierzynska A, Gangemi C, Lipska-Ziętkiewicz BS. Savige J, et al. Among authors: cerkauskiene r. Eur J Hum Genet. 2021 Aug;29(8):1186-1197. doi: 10.1038/s41431-021-00858-1. Epub 2021 Apr 15. Eur J Hum Genet. 2021. PMID: 33854215 Free PMC article.
Identification of 27 Novel Variants in Genes COL4A3, COL4A4, and COL4A5 in Lithuanian Families With Alport Syndrome.
Cerkauskaite A, Savige J, Janonyte K, Jeremiciute I, Miglinas M, Kazenaite E, Laurinavicius A, Strupaite-Sileikiene R, Vainutiene V, Burnyte B, Jankauskiene A, Rolfs A, Bauer P, Schröder S, Cerkauskiene R. Cerkauskaite A, et al. Among authors: cerkauskiene r. Front Med (Lausanne). 2022 Mar 28;9:859521. doi: 10.3389/fmed.2022.859521. eCollection 2022. Front Med (Lausanne). 2022. PMID: 35419377 Free PMC article.
Genotype⁻Phenotype Correlation in a New Fabry-Disease-Causing Mutation.
Čerkauskaitė A, Čerkauskienė R, Miglinas M, Laurinavičius A, Ding C, Rolfs A, Vencevičienė L, Barysienė J, Kazėnaitė E, Sadauskienė E. Čerkauskaitė A, et al. Among authors: cerkauskiene r. Medicina (Kaunas). 2019 May 7;55(5):122. doi: 10.3390/medicina55050122. Medicina (Kaunas). 2019. PMID: 31067829 Free PMC article.
An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients.
Almeida LS, Pereira C, Aanicai R, Schröder S, Bochinski T, Kaune A, Urzi A, Spohr TCLS, Viceconte N, Oppermann S, Alasel M, Ebadat S, Iftikhar S, Jasinge E, Elsayed SM, Tomoum H, Marzouk I, Jalan AB, Cerkauskaite A, Cerkauskiene R, Tkemaladze T, Nadeem AM, El Din Mahmoud IG, Mossad FA, Kamel M, Selim LA, Cheema HA, Paknia O, Cozma C, Juaristi-Manrique C, Guatibonza-Moreno P, Böttcher T, Vogel F, Pinto-Basto J, Bertoli-Avella A, Bauer P. Almeida LS, et al. Among authors: cerkauskiene r. Eur J Hum Genet. 2022 Sep;30(9):1029-1035. doi: 10.1038/s41431-022-01119-5. Epub 2022 May 25. Eur J Hum Genet. 2022. PMID: 35614200 Free PMC article.
Characteristics and outcomes of children with primary oxalosis requiring renal replacement therapy.
Harambat J, van Stralen KJ, Espinosa L, Groothoff JW, Hulton SA, Cerkauskiene R, Schaefer F, Verrina E, Jager KJ, Cochat P; European Society for Pediatric Nephrology/European Renal Association-European Dialysis and Transplant Association (ESPN/ERA-EDTA) Registry. Harambat J, et al. Among authors: cerkauskiene r. Clin J Am Soc Nephrol. 2012 Mar;7(3):458-65. doi: 10.2215/CJN.07430711. Epub 2012 Jan 5. Clin J Am Soc Nephrol. 2012. PMID: 22223608 Free PMC article.
Nationwide renal biopsy data in Lithuania 1994-2012.
Brazdziute E, Miglinas M, Gruodyte E, Priluckiene J, Tamosaitis A, Bumblyte IA, Kuzminskis V, Burbaickaja S, Sakalauskienė M, Jankauskienė A, Cerkauskiene R, Pundziene B, Laurinavicius A. Brazdziute E, et al. Among authors: cerkauskiene r. Int Urol Nephrol. 2015 Apr;47(4):655-62. doi: 10.1007/s11255-015-0927-y. Epub 2015 Feb 17. Int Urol Nephrol. 2015. PMID: 25686739
ADPedKD: A Global Online Platform on the Management of Children With ADPKD.
De Rechter S, Bockenhauer D, Guay-Woodford LM, Liu I, Mallett AJ, Soliman NA, Sylvestre LC, Schaefer F, Liebau MC, Mekahli D; ADPedKD Consortium. De Rechter S, et al. Kidney Int Rep. 2019 May 29;4(9):1271-1284. doi: 10.1016/j.ekir.2019.05.015. eCollection 2019 Sep. Kidney Int Rep. 2019. PMID: 31517146 Free PMC article.
Cystinuria: clinical practice recommendation.
Servais A, Thomas K, Dello Strologo L, Sayer JA, Bekri S, Bertholet-Thomas A, Bultitude M, Capolongo G, Cerkauskiene R, Daudon M, Doizi S, Gillion V, Gràcia-Garcia S, Halbritter J, Heidet L, van den Heijkant M, Lemoine S, Knebelmann B, Emma F, Levtchenko E; Metabolic Nephropathy Workgroup of the European Reference Network for Rare Kidney Diseases (ERKNet) and eUROGEN. Servais A, et al. Among authors: cerkauskiene r. Kidney Int. 2021 Jan;99(1):48-58. doi: 10.1016/j.kint.2020.06.035. Epub 2020 Sep 9. Kidney Int. 2021. PMID: 32918941
44 results