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Journal Abstract Search

729 related items for PubMed ID: 28117080

  • 1. Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management.
    Bierzynska A, McCarthy HJ, Soderquest K, Sen ES, Colby E, Ding WY, Nabhan MM, Kerecuk L, Hegde S, Hughes D, Marks S, Feather S, Jones C, Webb NJ, Ognjanovic M, Christian M, Gilbert RD, Sinha MD, Lord GM, Simpson M, Koziell AB, Welsh GI, Saleem MA.
    Kidney Int; 2017 Apr; 91(4):937-947. PubMed ID: 28117080
    [Abstract] [Full Text] [Related]

  • 2. Novel NPHS2 variant in patients with familial steroid-resistant nephrotic syndrome with early onset, slow progression and dominant inheritance pattern.
    Suvanto M, Patrakka J, Jahnukainen T, Sjöström PM, Nuutinen M, Arikoski P, Kataja J, Kestilä M, Jalanko H.
    Clin Exp Nephrol; 2017 Aug; 21(4):677-684. PubMed ID: 27573339
    [Abstract] [Full Text] [Related]

  • 3. Rapid Response to Cyclosporin A and Favorable Renal Outcome in Nongenetic Versus Genetic Steroid-Resistant Nephrotic Syndrome.
    Büscher AK, Beck BB, Melk A, Hoefele J, Kranz B, Bamborschke D, Baig S, Lange-Sperandio B, Jungraithmayr T, Weber LT, Kemper MJ, Tönshoff B, Hoyer PF, Konrad M, Weber S, German Pediatric Nephrology Association (GPN).
    Clin J Am Soc Nephrol; 2016 Feb 05; 11(2):245-53. PubMed ID: 26668027
    [Abstract] [Full Text] [Related]

  • 4. Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome.
    Warejko JK, Tan W, Daga A, Schapiro D, Lawson JA, Shril S, Lovric S, Ashraf S, Rao J, Hermle T, Jobst-Schwan T, Widmeier E, Majmundar AJ, Schneider R, Gee HY, Schmidt JM, Vivante A, van der Ven AT, Ityel H, Chen J, Sadowski CE, Kohl S, Pabst WL, Nakayama M, Somers MJG, Rodig NM, Daouk G, Baum M, Stein DR, Ferguson MA, Traum AZ, Soliman NA, Kari JA, El Desoky S, Fathy H, Zenker M, Bakkaloglu SA, Müller D, Noyan A, Ozaltin F, Cadnapaphornchai MA, Hashmi S, Hopcian J, Kopp JB, Benador N, Bockenhauer D, Bogdanovic R, Stajić N, Chernin G, Ettenger R, Fehrenbach H, Kemper M, Munarriz RL, Podracka L, Büscher R, Serdaroglu E, Tasic V, Mane S, Lifton RP, Braun DA, Hildebrandt F.
    Clin J Am Soc Nephrol; 2018 Jan 06; 13(1):53-62. PubMed ID: 29127259
    [Abstract] [Full Text] [Related]

  • 5. Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome.
    Wang F, Zhang Y, Mao J, Yu Z, Yi Z, Yu L, Sun J, Wei X, Ding F, Zhang H, Xiao H, Yao Y, Tan W, Lovric S, Ding J, Hildebrandt F.
    Pediatr Nephrol; 2017 Jul 06; 32(7):1181-1192. PubMed ID: 28204945
    [Abstract] [Full Text] [Related]

  • 6. Steroid-resistant nephrotic syndrome: impact of genetic testing.
    Kari JA, El-Desoky SM, Gari M, Malik K, Vega-Warner V, Lovric S, Bockenhauer D.
    Ann Saudi Med; 2013 Jul 06; 33(6):533-8. PubMed ID: 24413855
    [Abstract] [Full Text] [Related]

  • 7. Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome.
    Büscher AK, Kranz B, Büscher R, Hildebrandt F, Dworniczak B, Pennekamp P, Kuwertz-Bröking E, Wingen AM, John U, Kemper M, Monnens L, Hoyer PF, Weber S, Konrad M.
    Clin J Am Soc Nephrol; 2010 Nov 06; 5(11):2075-84. PubMed ID: 20798252
    [Abstract] [Full Text] [Related]

  • 8. Causal and putative pathogenic mutations identified in 39% of children with primary steroid-resistant nephrotic syndrome in South Africa.
    Nandlal L, Winkler CA, Bhimma R, Cho S, Nelson GW, Haripershad S, Naicker T.
    Eur J Pediatr; 2022 Oct 06; 181(10):3595-3606. PubMed ID: 35920919
    [Abstract] [Full Text] [Related]

  • 9. WT1 and NPHS2 gene mutation analysis and clinical management of steroid-resistant nephrotic syndrome.
    Ramanathan AS, Vijayan M, Rajagopal S, Rajendiran P, Senguttuvan P.
    Mol Cell Biochem; 2017 Feb 06; 426(1-2):177-181. PubMed ID: 27885584
    [Abstract] [Full Text] [Related]

  • 10. Report of novel genetic variation in NPHS2 gene associated with idiopathic nephrotic syndrome in South Indian children.
    Dhandapani MC, Venkatesan V, Rengaswamy NB, Gowrishankar K, Ekambaram S, Sengutavan P, Perumal V.
    Clin Exp Nephrol; 2017 Feb 06; 21(1):127-133. PubMed ID: 26820844
    [Abstract] [Full Text] [Related]

  • 11. A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.
    Sadowski CE, Lovric S, Ashraf S, Pabst WL, Gee HY, Kohl S, Engelmann S, Vega-Warner V, Fang H, Halbritter J, Somers MJ, Tan W, Shril S, Fessi I, Lifton RP, Bockenhauer D, El-Desoky S, Kari JA, Zenker M, Kemper MJ, Mueller D, Fathy HM, Soliman NA, SRNS Study Group, Hildebrandt F.
    J Am Soc Nephrol; 2015 Jun 06; 26(6):1279-89. PubMed ID: 25349199
    [Abstract] [Full Text] [Related]

  • 12. Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome.
    Santín S, Bullich G, Tazón-Vega B, García-Maset R, Giménez I, Silva I, Ruíz P, Ballarín J, Torra R, Ars E.
    Clin J Am Soc Nephrol; 2011 May 06; 6(5):1139-48. PubMed ID: 21415313
    [Abstract] [Full Text] [Related]

  • 13. Steroid Resistant Nephrotic Syndrome-Genetic Consideration.
    Tasic V, Gucev Z, Polenakovic M.
    Pril (Makedon Akad Nauk Umet Odd Med Nauki); 2015 May 06; 36(3):5-12. PubMed ID: 27442391
    [Abstract] [Full Text] [Related]

  • 14. Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome.
    Santín S, Tazón-Vega B, Silva I, Cobo MÁ, Giménez I, Ruíz P, García-Maset R, Ballarín J, Torra R, Ars E, FSGS Spanish Study Group.
    Clin J Am Soc Nephrol; 2011 Feb 06; 6(2):344-54. PubMed ID: 20947785
    [Abstract] [Full Text] [Related]

  • 15. Low prevalence of NPHS2 mutations in African American children with steroid-resistant nephrotic syndrome.
    Chernin G, Heeringa SF, Gbadegesin R, Liu J, Hinkes BG, Vlangos CN, Vega-Warner V, Hildebrandt F.
    Pediatr Nephrol; 2008 Sep 06; 23(9):1455-60. PubMed ID: 18543005
    [Abstract] [Full Text] [Related]

  • 16. Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity.
    Bullich G, Trujillano D, Santín S, Ossowski S, Mendizábal S, Fraga G, Madrid Á, Ariceta G, Ballarín J, Torra R, Estivill X, Ars E.
    Eur J Hum Genet; 2015 Sep 06; 23(9):1192-9. PubMed ID: 25407002
    [Abstract] [Full Text] [Related]

  • 17. Targeted gene panel for genetic testing of south Indian children with steroid resistant nephrotic syndrome.
    Siji A, Karthik KN, Pardeshi VC, Hari PS, Vasudevan A.
    BMC Med Genet; 2018 Nov 20; 19(1):200. PubMed ID: 30458709
    [Abstract] [Full Text] [Related]

  • 18. Analysis of 24 genes reveals a monogenic cause in 11.1% of cases with steroid-resistant nephrotic syndrome at a single center.
    Tan W, Lovric S, Ashraf S, Rao J, Schapiro D, Airik M, Shril S, Gee HY, Baum M, Daouk G, Ferguson MA, Rodig N, Somers MJG, Stein DR, Vivante A, Warejko JK, Widmeier E, Hildebrandt F.
    Pediatr Nephrol; 2018 Feb 20; 33(2):305-314. PubMed ID: 28921387
    [Abstract] [Full Text] [Related]

  • 19. Genetic diagnosis of steroid-resistant nephrotic syndrome in a longitudinal collection of Czech and Slovak patients: a high proportion of causative variants in NUP93.
    Bezdíčka M, Štolbová Š, Seeman T, Cinek O, Malina M, Šimánková N, Průhová Š, Zieg J.
    Pediatr Nephrol; 2018 Aug 20; 33(8):1347-1363. PubMed ID: 29869118
    [Abstract] [Full Text] [Related]

  • 20. Genetic screening in adolescents with steroid-resistant nephrotic syndrome.
    Lipska BS, Iatropoulos P, Maranta R, Caridi G, Ozaltin F, Anarat A, Balat A, Gellermann J, Trautmann A, Erdogan O, Saeed B, Emre S, Bogdanovic R, Azocar M, Balasz-Chmielewska I, Benetti E, Caliskan S, Mir S, Melk A, Ertan P, Baskin E, Jardim H, Davitaia T, Wasilewska A, Drozdz D, Szczepanska M, Jankauskiene A, Higuita LM, Ardissino G, Ozkaya O, Kuzma-Mroczkowska E, Soylemezoglu O, Ranchin B, Medynska A, Tkaczyk M, Peco-Antic A, Akil I, Jarmolinski T, Firszt-Adamczyk A, Dusek J, Simonetti GD, Gok F, Gheissari A, Emma F, Krmar RT, Fischbach M, Printza N, Simkova E, Mele C, Ghiggeri GM, Schaefer F, PodoNet Consortium.
    Kidney Int; 2013 Jul 20; 84(1):206-13. PubMed ID: 23515051
    [Abstract] [Full Text] [Related]

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