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116 results

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Page 1
Interfamilial clinical variability in four Polish families with cranioectodermal dysplasia and identical compound heterozygous variants in WDR35.
Walczak-Sztulpa J, Wawrocka A, Stańczyk M, Pesz K, Dudarewicz L, Chrul S, Bukowska-Olech E, Wieczorek-Cichecka N, Arts HH, Oud MM, Śmigiel R, Grenda R, Obersztyn E, Chrzanowska KH, Latos-Bieleńska A. Walczak-Sztulpa J, et al. Among authors: stanczyk m. Am J Med Genet A. 2021 Apr;185(4):1195-1203. doi: 10.1002/ajmg.a.62067. Epub 2021 Jan 9. Am J Med Genet A. 2021. PMID: 33421337
Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants.
Burgmaier K, Brinker L, Erger F, Beck BB, Benz MR, Bergmann C, Boyer O, Collard L, Dafinger C, Fila M, Kowalewska C, Lange-Sperandio B, Massella L, Mastrangelo A, Mekahli D, Miklaszewska M, Ortiz-Bruechle N, Patzer L, Prikhodina L, Ranchin B, Ranguelov N, Schild R, Seeman T, Sever L, Sikora P, Szczepanska M, Teixeira A, Thumfart J, Uetz B, Weber LT, Wühl E, Zerres K; ESCAPE Study group; GPN study group; Dötsch J, Schaefer F, Liebau MC; ARegPKD consortium. Burgmaier K, et al. Kidney Int. 2021 Sep;100(3):650-659. doi: 10.1016/j.kint.2021.04.019. Epub 2021 Apr 30. Kidney Int. 2021. PMID: 33940108
Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy.
Drovandi S, Lipska-Ziętkiewicz BS, Ozaltin F, Emma F, Gulhan B, Boyer O, Trautmann A, Ziętkiewicz S, Xu H, Shen Q, Rao J, Riedhammer KM, Heemann U, Hoefele J, Stenton SL, Tsygin AN, Ng KH, Fomina S, Benetti E, Aurelle M, Prikhodina L, Schijvens AM, Tabatabaeifar M, Jankowski M, Baiko S, Mao J, Feng C, Deng F, Rousset-Rouviere C, Stańczyk M, Bałasz-Chmielewska I, Fila M, Durkan AM, Levart TK, Dursun I, Esfandiar N, Haas D, Bjerre A, Anarat A, Benz MR, Talebi S, Hooman N, Ariceta G; PodoNet Consortium; mitoNET Consortium; CCGKDD Consortium; Schaefer F. Drovandi S, et al. Among authors: stanczyk m. Kidney Int. 2022 Sep;102(3):592-603. doi: 10.1016/j.kint.2022.02.040. Epub 2022 Apr 26. Kidney Int. 2022. PMID: 35483523 Free article.
Oral Coenzyme Q10 supplementation leads to better preservation of kidney function in steroid-resistant nephrotic syndrome due to primary Coenzyme Q10 deficiency.
Drovandi S, Lipska-Ziętkiewicz BS, Ozaltin F, Emma F, Gulhan B, Boyer O, Trautmann A, Xu H, Shen Q, Rao J, Riedhammer KM, Heemann U, Hoefele J, Stenton SL, Tsygin AN, Ng KH, Fomina S, Benetti E, Aurelle M, Prikhodina L, Schreuder MF, Tabatabaeifar M, Jankowski M, Baiko S, Mao J, Feng C, Liu C, Sun S, Deng F, Wang X, Clavé S, Stańczyk M, Bałasz-Chmielewska I, Fila M, Durkan AM, Levart TK, Dursun I, Esfandiar N, Haas D, Bjerre A, Anarat A, Benz MR, Talebi S, Hooman N, Ariceta G; PodoNet Consortium; mitoNET Consortium; CCGKDD Consortium; Schaefer F. Drovandi S, et al. Among authors: stanczyk m. Kidney Int. 2022 Sep;102(3):604-612. doi: 10.1016/j.kint.2022.04.029. Epub 2022 May 25. Kidney Int. 2022. PMID: 35643375 Free article.
What has changed in the prevalence of hypertension in dialyzed children during the last decade?
Tkaczyk M, Stańczyk M, Miklaszewska M, Zachwieja K, Wierciński R, Stankiewicz R, Firszt-Adamczyk A, Zachwieja J, Borzęcka H, Zagożdżon I, Leszczyńska B, Medyńska A, Adamczyk P, Szczepańska M, Fendler W. Tkaczyk M, et al. Among authors: stanczyk m. Ren Fail. 2017 Nov;39(1):283-289. doi: 10.1080/0886022X.2016.1260033. Epub 2016 Nov 24. Ren Fail. 2017. PMID: 27882810 Free PMC article.
"Apple does not fall far from the tree" - subclinical atherosclerosis in children with familial hypercholesterolemia.
Podgórski M, Szatko K, Stańczyk M, Pawlak-Bratkowska M, Konopka A, Starostecka E, Tkaczyk M, Góreczny S, Rutkowska L, Gach A, Łukaszewski M, Grzelak P, Banach M. Podgórski M, et al. Among authors: stanczyk m. Lipids Health Dis. 2020 Jul 14;19(1):169. doi: 10.1186/s12944-020-01335-2. Lipids Health Dis. 2020. PMID: 32664969 Free PMC article.
Kidney length normative values in children aged 0-19 years - a multicenter study.
Obrycki Ł, Sarnecki J, Lichosik M, Sopińska M, Placzyńska M, Stańczyk M, Mirecka J, Wasilewska A, Michalski M, Lewandowska W, Dereziński T, Pac M, Szwarc N, Annusewicz K, Rekuta V, Ažukaitis K, Čekuolis A, Wierzbicka-Rucińska A, Jankauskiene A, Kalicki B, Jobs K, Tkaczyk M, Feber J, Litwin M. Obrycki Ł, et al. Among authors: stanczyk m. Pediatr Nephrol. 2022 May;37(5):1075-1085. doi: 10.1007/s00467-021-05303-5. Epub 2021 Oct 16. Pediatr Nephrol. 2022. PMID: 34657197 Free PMC article.
116 results