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Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum.
Matejas V, Hinkes B, Alkandari F, Al-Gazali L, Annexstad E, Aytac MB, Barrow M, Bláhová K, Bockenhauer D, Cheong HI, Maruniak-Chudek I, Cochat P, Dötsch J, Gajjar P, Hennekam RC, Janssen F, Kagan M, Kariminejad A, Kemper MJ, Koenig J, Kogan J, Kroes HY, Kuwertz-Bröking E, Lewanda AF, Medeira A, Muscheites J, Niaudet P, Pierson M, Saggar A, Seaver L, Suri M, Tsygin A, Wühl E, Zurowska A, Uebe S, Hildebrandt F, Antignac C, Zenker M. Matejas V, et al. Among authors: zurowska a. Hum Mutat. 2010 Sep;31(9):992-1002. doi: 10.1002/humu.21304. Hum Mutat. 2010. PMID: 20556798 Free PMC article. Review.
Ophthalmological aspects of Pierson syndrome.
Bredrup C, Matejas V, Barrow M, Bláhová K, Bockenhauer D, Fowler DJ, Gregson RM, Maruniak-Chudek I, Medeira A, Mendonça EL, Kagan M, Koenig J, Krastel H, Kroes HY, Saggar A, Sawyer T, Schittkowski M, Swietliński J, Thompson D, VanDeVoorde RG, Wittebol-Post D, Woodruff G, Zurowska A, Hennekam RC, Zenker M, Russell-Eggitt I. Bredrup C, et al. Among authors: zurowska a. Am J Ophthalmol. 2008 Oct;146(4):602-611. doi: 10.1016/j.ajo.2008.05.039. Epub 2008 Jul 31. Am J Ophthalmol. 2008. PMID: 18672223
Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study.
Weber S, Moriniere V, Knüppel T, Charbit M, Dusek J, Ghiggeri GM, Jankauskiené A, Mir S, Montini G, Peco-Antic A, Wühl E, Zurowska AM, Mehls O, Antignac C, Schaefer F, Salomon R. Weber S, et al. Among authors: zurowska am. J Am Soc Nephrol. 2006 Oct;17(10):2864-70. doi: 10.1681/ASN.2006030277. Epub 2006 Sep 13. J Am Soc Nephrol. 2006. PMID: 16971658
SIX2 and BMP4 mutations associate with anomalous kidney development.
Weber S, Taylor JC, Winyard P, Baker KF, Sullivan-Brown J, Schild R, Knüppel T, Zurowska AM, Caldas-Alfonso A, Litwin M, Emre S, Ghiggeri GM, Bakkaloglu A, Mehls O, Antignac C, Network E, Schaefer F, Burdine RD. Weber S, et al. Among authors: zurowska am. J Am Soc Nephrol. 2008 May;19(5):891-903. doi: 10.1681/ASN.2006111282. Epub 2008 Feb 27. J Am Soc Nephrol. 2008. PMID: 18305125 Free PMC article.
Genotype-phenotype associations in WT1 glomerulopathy.
Lipska BS, Ranchin B, Iatropoulos P, Gellermann J, Melk A, Ozaltin F, Caridi G, Seeman T, Tory K, Jankauskiene A, Zurowska A, Szczepanska M, Wasilewska A, Harambat J, Trautmann A, Peco-Antic A, Borzecka H, Moczulska A, Saeed B, Bogdanovic R, Kalyoncu M, Simkova E, Erdogan O, Vrljicak K, Teixeira A, Azocar M, Schaefer F; PodoNet Consortium. Lipska BS, et al. Among authors: zurowska a. Kidney Int. 2014 May;85(5):1169-78. doi: 10.1038/ki.2013.519. Epub 2014 Jan 8. Kidney Int. 2014. PMID: 24402088 Free article.
ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGS.
Korkmaz E, Lipska-Ziętkiewicz BS, Boyer O, Gribouval O, Fourrage C, Tabatabaei M, Schnaidt S, Gucer S, Kaymaz F, Arici M, Dinckan A, Mir S, Bayazit AK, Emre S, Balat A, Rees L, Shroff R, Bergmann C, Mourani C, Antignac C, Ozaltin F, Schaefer F; PodoNet Consortium. Korkmaz E, et al. J Am Soc Nephrol. 2016 Jan;27(1):63-8. doi: 10.1681/ASN.2014121240. Epub 2015 May 12. J Am Soc Nephrol. 2016. PMID: 25967120 Free PMC article.
Normal 25-Hydroxyvitamin D Levels Are Associated with Less Proteinuria and Attenuate Renal Failure Progression in Children with CKD.
Shroff R, Aitkenhead H, Costa N, Trivelli A, Litwin M, Picca S, Anarat A, Sallay P, Ozaltin F, Zurowska A, Jankauskiene A, Montini G, Charbit M, Schaefer F, Wühl E; ESCAPE Trial Group. Shroff R, et al. Among authors: zurowska a. J Am Soc Nephrol. 2016 Jan;27(1):314-22. doi: 10.1681/ASN.2014090947. Epub 2015 Jun 11. J Am Soc Nephrol. 2016. PMID: 26069294 Free PMC article.
152 results