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Page 1
Phenotypic characterization of seven individuals with Marbach-Schaaf neurodevelopmental syndrome.
Marbach F, Lipska-Ziętkiewicz BS, Knurowska A, Michaud V, Margot H, Lespinasse J, Tran Mau Them F, Coubes C, Park J, Grosch S, Roggia C, Grasshoff U, Kalsner L, Denommé-Pichon AS, Afenjar A, Héron B, Keren B, Caro P, Schaaf CP. Marbach F, et al. Among authors: lipska zietkiewicz bs. Am J Med Genet A. 2022 Sep;188(9):2627-2636. doi: 10.1002/ajmg.a.62884. Epub 2022 Jul 5. Am J Med Genet A. 2022. PMID: 35789103
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes.
Scala M, Drouot N, MacLennan SC, Wessels MW, Krygier M, Pavinato L, Telegrafi A, de Man SA, van Slegtenhorst M, Iacomino M, Madia F, Scudieri P, Uva P, Giacomini T, Nobile G, Mancardi MM, Balagura G, Galloni GB, Verrotti A, Umair M, Khan A, Liebelt J, Schmidts M, Langer T, Brusco A, Lipska-Ziętkiewicz BS, Saris JJ, Charlet-Berguerand N, Zara F, Striano P, Piton A. Scala M, et al. Among authors: lipska zietkiewicz bs. Hum Mutat. 2022 Sep;43(9):1299-1313. doi: 10.1002/humu.24414. Epub 2022 Jun 8. Hum Mutat. 2022. PMID: 35607920 Free PMC article.
Multicenter study on the genetics of glomerular diseases among southeast and south Asians: Deciphering Diversities - Renal Asian Genetics Network (DRAGoN).
Lu L, Yap YC, Nguyen DQ, Chan YH, Ng JL, Zhang YC, Chan CY, Than M, Liu ID, Asim S, Moorani K, Naeem B, Ijaz I, Nguyen TMT, Lee ML, Eng C, Huque SS, Ng YH, Ganesan I, Chao SM, Chong SL, Tan PH, Loh A, Davila S, Kumar V, Ling JZ, Moorakonda RB, Tan KM, Ng AY, Poon KS, Schaefer F, Lipska-Zietkiewicz B, Yap HK, Ng KH; Deciphering Diversities: Renal Asian Genetics Network (DRAGoN). Lu L, et al. Clin Genet. 2022 May;101(5-6):541-551. doi: 10.1111/cge.14116. Epub 2022 Feb 1. Clin Genet. 2022. PMID: 35064937
Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia.
Lipska-Ziętkiewicz BS, Gellermann J, Boyer O, Gribouval O, Ziętkiewicz S, Kari JA, Shalaby MA, Ozaltin F, Dusek J, Melk A, Bayazit AK, Massella L, Hyla-Klekot L, Habbig S, Godron A, Szczepańska M, Bieniaś B, Drożdż D, Odeh R, Jarmużek W, Zachwieja K, Trautmann A, Antignac C, Schaefer F; PodoNet Consortium. Lipska-Ziętkiewicz BS, et al. PLoS One. 2017 Aug 10;12(8):e0180926. doi: 10.1371/journal.pone.0180926. eCollection 2017. PLoS One. 2017. PMID: 28796785 Free PMC article.
Mild phenotype of a large partial 13q trisomy.
Krygier M, Lipska-Zietkiewicz BS, Koczkowska M, Wierzba J, Limon J. Krygier M, et al. Clin Dysmorphol. 2014 Oct;23(4):155-7. doi: 10.1097/MCD.0000000000000052. Clin Dysmorphol. 2014. PMID: 25144153 No abstract available.
Long-Term Outcome of Steroid-Resistant Nephrotic Syndrome in Children.
Trautmann A, Schnaidt S, Lipska-Ziętkiewicz BS, Bodria M, Ozaltin F, Emma F, Anarat A, Melk A, Azocar M, Oh J, Saeed B, Gheisari A, Caliskan S, Gellermann J, Higuita LMS, Jankauskiene A, Drozdz D, Mir S, Balat A, Szczepanska M, Paripovic D, Zurowska A, Bogdanovic R, Yilmaz A, Ranchin B, Baskin E, Erdogan O, Remuzzi G, Firszt-Adamczyk A, Kuzma-Mroczkowska E, Litwin M, Murer L, Tkaczyk M, Jardim H, Wasilewska A, Printza N, Fidan K, Simkova E, Borzecka H, Staude H, Hees K, Schaefer F; PodoNet Consortium. Trautmann A, et al. J Am Soc Nephrol. 2017 Oct;28(10):3055-3065. doi: 10.1681/ASN.2016101121. Epub 2017 May 31. J Am Soc Nephrol. 2017. PMID: 28566477 Free PMC article.
52 results