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252 results

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Page 1
Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic Diagnosis.
Ahram DF, Lim TY, Ke J, Jin G, Verbitsky M, Bodria M, Kil BH, Chatterjee D, Piva SE, Marasa M, Zhang JY, Cocchi E, Caridi G, Gucev Z, Lozanovski VJ, Pisani I, Izzi C, Savoldi G, Gnutti B, Capone VP, Morello W, Guarino S, Esposito P, Lambert S, Radhakrishnan J, Appel GB, Uy NS, Rao MK, Canetta PA, Bomback AS, Nestor JG, Hays T, Cohen DJ, Finale C, Wijk JAEV, La Scola C, Baraldi O, Tondolo F, Di Renzo D, Jamry-Dziurla A, Pezzutto A, Manca V, Mitrotti A, Santoro D, Conti G, Martino M, Giordano M, Gesualdo L, Zibar L, Masnata G, Bonomini M, Alberti D, La Manna G, Caliskan Y, Ranghino A, Marzuillo P, Kiryluk K, Krzemień G, Miklaszewska M, Lin F, Montini G, Scolari F, Fiaccadori E, Arapović A, Saraga M, McKiernan J, Alam S, Zaniew M, Szczepańska M, Szmigielska A, Sikora P, Drożdż D, Mizerska-Wasiak M, Mane S, Lifton RP, Tasic V, Latos-Bielenska A, Gharavi AG, Ghiggeri GM, Materna-Kiryluk A, Westland R, Sanna-Cherchi S. Ahram DF, et al. Among authors: szczepanska m. J Am Soc Nephrol. 2023 Jun 1;34(6):1105-1119. doi: 10.1681/ASN.0000000000000132. Epub 2023 Mar 30. J Am Soc Nephrol. 2023. PMID: 36995132 Free PMC article.
Genome-Wide Survey for Microdeletions or -Duplications in 155 Patients with Lower Urinary Tract Obstructions (LUTO).
Schierbaum LM, Schneider S, Herms S, Sivalingam S, Fabian J, Reutter H, Weber S, Merz WM, Tkaczyk M, Miklaszewska M, Sikora P, Szmigielska A, Krzemien G, Zachwieja K, Szczepanska M, Taranta-Janusz K, Kroll P, Polok M, Zaniew M, Hilger AC. Schierbaum LM, et al. Among authors: szczepanska m. Genes (Basel). 2021 Sep 20;12(9):1449. doi: 10.3390/genes12091449. Genes (Basel). 2021. PMID: 34573432 Free PMC article.
The Role of Complement Component C3 Activation in the Clinical Presentation and Prognosis of IgA Nephropathy-A National Study in Children.
Mizerska-Wasiak M, Such-Gruchot A, Cichoń-Kawa K, Turczyn A, Małdyk J, Miklaszewska M, Drożdż D, Firszt-Adamczyk A, Stankiewicz R, Rybi-Szumińska A, Wasilewska A, Szczepańska M, Bieniaś B, Sikora P, Pukajło-Marczyk A, Zwolińska D, Pawlak-Bratkowska M, Tkaczyk M, Zachwieja J, Drożyńska-Duklas M, Żurowska A, Gadomska-Prokop K, Grenda R, Pańczyk-Tomaszewska M. Mizerska-Wasiak M, et al. Among authors: szczepanska m. J Clin Med. 2021 Sep 26;10(19):4405. doi: 10.3390/jcm10194405. J Clin Med. 2021. PMID: 34640422 Free PMC article.
Antibiotic Prophylaxis in Infants with Grade III, IV, or V Vesicoureteral Reflux.
Morello W, Baskin E, Jankauskiene A, Yalcinkaya F, Zurowska A, Puccio G, Serafinelli J, La Manna A, Krzemień G, Pennesi M, La Scola C, Becherucci F, Brugnara M, Yuksel S, Mekahli D, Chimenz R, De Palma D, Zucchetta P, Vajauskas D, Drozdz D, Szczepanska M, Caliskan S, Lombet J, Minoli DG, Guarino S, Gulleroglu K, Ruzgiene D, Szmigielska A, Barbi E, Ozcakar ZB, Kranz A, Pasini A, Materassi M, De Rechter S, Ariceta G, Weber LT, Marzuillo P, Alberici I, Taranta-Janusz K, Caldas Afonso A, Tkaczyk M, Català M, Cabrera Sevilla JE, Mehls O, Schaefer F, Montini G; PREDICT Study Group. Morello W, et al. Among authors: szczepanska m. N Engl J Med. 2023 Sep 14;389(11):987-997. doi: 10.1056/NEJMoa2300161. Epub 2023 Sep 12. N Engl J Med. 2023. PMID: 37702442 Free article. Clinical Trial.
X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems.
Kolvenbach CM, Felger T, Schierbaum L, Thiffault I, Pastinen T, Szczepańska M, Zaniew M, Adamczyk P, Bayat A, Yilmaz Ö, Lindenberg TT, Thiele H, Hildebrandt F, Hinderhofer K, Moog U, Hilger AC, Sullivan B, Bartik L, Gnyś P, Grote P, Odermatt B, Reutter HM, Dworschak GC. Kolvenbach CM, et al. Among authors: szczepanska m. J Med Genet. 2023 Jun;60(6):587-596. doi: 10.1136/jmg-2022-108738. Epub 2022 Nov 15. J Med Genet. 2023. PMID: 36379543 Free PMC article.
Exome sequencing identifies a likely causative variant in 53% of families with ciliopathy-related features on renal ultrasound after excluding NPHP1 deletions.
Deutsch K, Klämbt V, Kitzler TM, Jobst-Schwan T, Schneider R, Buerger F, Seltzsam S, El Desoky S, Kari JA, Hafeez F, Szczepańska M, Eid LA, Awad HS, Al-Saffar M, Soliman NA, Tasic V, Nicolas-Frank C, Yousef K, Schierbaum LM, Schneider S, Halawi A, Elmubarak I, Lemberg K, Shril S, Mane SM, Rodig N, Hildebrandt F. Deutsch K, et al. Among authors: szczepanska m. Genes Dis. 2023 Sep 15;11(5):101111. doi: 10.1016/j.gendis.2023.101111. eCollection 2024 Sep. Genes Dis. 2023. PMID: 38868576 Free PMC article. No abstract available.
Outcomes of steroid-resistant nephrotic syndrome in children not treated with intensified immunosuppression.
Trautmann A, Seide S, Lipska-Ziętkiewicz BS, Ozaltin F, Szczepanska M, Azocar M, Jankauskiene A, Zurowska A, Caliskan S, Saeed B, Morello W, Emma F, Litwin M, Tsygin A, Fomina S, Wasilewska A, Melk A, Benetti E, Gellermann J, Stajic N, Tkaczyk M, Baiko S, Prikhodina L, Csaicsich D, Medynska A, Krisam R, Breitschwerdt H, Schaefer F; PodoNet Consortium. Trautmann A, et al. Among authors: szczepanska m. Pediatr Nephrol. 2023 May;38(5):1499-1511. doi: 10.1007/s00467-022-05762-4. Epub 2022 Oct 31. Pediatr Nephrol. 2023. PMID: 36315273 Free PMC article.
Real-world evidence on the dosing and safety of C.E.R.A. in pediatric dialysis patients: findings from the International Pediatric Dialysis Network registries.
Kohlhas L, Studer M, Rutten-Jacobs L, Reigner SM, Sander A, Yap HK, Vondrak K, Coccia PA, Cano F, Schmitt CP, Warady BA, Schaefer F; IPDN collaborators. Kohlhas L, et al. Pediatr Nephrol. 2024 Mar;39(3):807-818. doi: 10.1007/s00467-023-05977-z. Epub 2023 Aug 11. Pediatr Nephrol. 2024. PMID: 37566114 Free PMC article.
252 results