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Journal Abstract Search

356 related items for PubMed ID: 21511817

  • 1. TRPC6 gene variants in Turkish children with steroid-resistant nephrotic syndrome.
    Mir S, Yavascan O, Berdeli A, Sozeri B.
    Nephrol Dial Transplant; 2012 Jan; 27(1):205-9. PubMed ID: 21511817
    [Abstract] [Full Text] [Related]

  • 2. TRPC6 mutations in children with steroid-resistant nephrotic syndrome and atypical phenotype.
    Gigante M, Caridi G, Montemurno E, Soccio M, d'Apolito M, Cerullo G, Aucella F, Schirinzi A, Emma F, Massella L, Messina G, De Palo T, Ranieri E, Ghiggeri GM, Gesualdo L.
    Clin J Am Soc Nephrol; 2011 Jul; 6(7):1626-34. PubMed ID: 21734084
    [Abstract] [Full Text] [Related]

  • 3. TRPC6 mutational analysis in a large cohort of patients with focal segmental glomerulosclerosis.
    Santín S, Ars E, Rossetti S, Salido E, Silva I, García-Maset R, Giménez I, Ruíz P, Mendizábal S, Luciano Nieto J, Peña A, Camacho JA, Fraga G, Cobo MA, Bernis C, Ortiz A, de Pablos AL, Sánchez-Moreno A, Pintos G, Mirapeix E, Fernández-Llama P, Ballarín J, Torra R, FSGS Study Group, Zamora I, López-Hellin J, Madrid A, Ventura C, Vilalta R, Espinosa L, García C, Melgosa M, Navarro M, Giménez A, Cots JV, Alexandra S, Caramelo C, Egido J, San José MD, de la Cerda F, Sala P, Raspall F, Vila A, Daza AM, Vázquez M, Ecija JL, Espinosa M, Justa ML, Poveda R, Aparicio C, Rosell J, Muley R, Montenegro J, González D, Hidalgo E, de Frutos DB, Trillo E, Gracia S, de los Ríos FJ.
    Nephrol Dial Transplant; 2009 Oct; 24(10):3089-96. PubMed ID: 19458060
    [Abstract] [Full Text] [Related]

  • 4. Screening of ACTN4 and TRPC6 mutations in a Chinese cohort of patients with adult-onset familial focal segmental glomerulosclerosis.
    Zhang Q, Ma J, Xie J, Wang Z, Zhu B, Hao X, Yang L, Ren H, Chen N.
    Contrib Nephrol; 2013 Oct; 181():91-100. PubMed ID: 23689571
    [Abstract] [Full Text] [Related]

  • 5. New TRPC6 gain-of-function mutation in a non-consanguineous Dutch family with late-onset focal segmental glomerulosclerosis.
    Hofstra JM, Lainez S, van Kuijk WH, Schoots J, Baltissen MP, Hoefsloot LH, Knoers NV, Berden JH, Bindels RJ, van der Vlag J, Hoenderop JG, Wetzels JF, Nijenhuis T.
    Nephrol Dial Transplant; 2013 Jul; 28(7):1830-8. PubMed ID: 23291369
    [Abstract] [Full Text] [Related]

  • 6. 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; 23(9):1192-9. PubMed ID: 25407002
    [Abstract] [Full Text] [Related]

  • 7. Mutations in NPHS2 in sporadic steroid-resistant nephrotic syndrome in Chinese children.
    Yu Z, Ding J, Huang J, Yao Y, Xiao H, Zhang J, Liu J, Yang J.
    Nephrol Dial Transplant; 2005 May; 20(5):902-8. PubMed ID: 15769810
    [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; 181(10):3595-3606. PubMed ID: 35920919
    [Abstract] [Full Text] [Related]

  • 9. Bigenic heterozygosity and the development of steroid-resistant focal segmental glomerulosclerosis.
    Löwik M, Levtchenko E, Westra D, Groenen P, Steenbergen E, Weening J, Lilien M, Monnens L, van den Heuvel L.
    Nephrol Dial Transplant; 2008 Oct; 23(10):3146-51. PubMed ID: 18443213
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. NPHS2 (podicin) mutations in Turkish children with idiopathic nephrotic syndrome.
    Berdeli A, Mir S, Yavascan O, Serdaroglu E, Bak M, Aksu N, Oner A, Anarat A, Donmez O, Yildiz N, Sever L, Tabel Y, Dusunsel R, Sonmez F, Cakar N.
    Pediatr Nephrol; 2007 Dec; 22(12):2031-40. PubMed ID: 17899208
    [Abstract] [Full Text] [Related]

  • 12. Mutational analysis of the PLCE1 gene in steroid resistant nephrotic syndrome.
    Boyer O, Benoit G, Gribouval O, Nevo F, Pawtowski A, Bilge I, Bircan Z, Deschênes G, Guay-Woodford LM, Hall M, Macher MA, Soulami K, Stefanidis CJ, Weiss R, Loirat C, Gubler MC, Antignac C.
    J Med Genet; 2010 Jul; 47(7):445-52. PubMed ID: 20591883
    [Abstract] [Full Text] [Related]

  • 13. In silico analysis of functional nsSNPs in human TRPC6 gene associated with steroid resistant nephrotic syndrome.
    Joshi BB, Koringa PG, Mistry KN, Patel AK, Gang S, Joshi CG.
    Gene; 2015 Nov 01; 572(1):8-16. PubMed ID: 26127002
    [Abstract] [Full Text] [Related]

  • 14. Genetic basis of nephrotic syndrome--review.
    Obeidová H, Merta M, Reiterová J, Maixnerová D, Stekrová J, Rysavá R, Tesar V.
    Prague Med Rep; 2006 Nov 01; 107(1):5-16. PubMed ID: 16752799
    [Abstract] [Full Text] [Related]

  • 15. A novel NPHS2 gene mutation in Turkish children with familial steroid-resistant nephrotic syndrome.
    Ozer EA, Aksu N, Erdogan H, Yavascan O, Kara O, Gribouval O, Gubler MC, Antignac C.
    Nephrology (Carlton); 2004 Oct 01; 9(5):310-2. PubMed ID: 15504144
    [Abstract] [Full Text] [Related]

  • 16. [Heterozygotic mutation in NPHS2 gene as a cause of familial steroid resistant nephrotic syndrome in two siblings--case report].
    Drozdz D, Pietrzyk JA, Wierzchowska-Słowiaczek E, Sancewicz-Pach K, Antignac C, Miezyński W.
    Przegl Lek; 2006 Oct 01; 63 Suppl 3():85-6. PubMed ID: 16898497
    [Abstract] [Full Text] [Related]

  • 17. NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence.
    Weber S, Gribouval O, Esquivel EL, Morinière V, Tête MJ, Legendre C, Niaudet P, Antignac C.
    Kidney Int; 2004 Aug 01; 66(2):571-9. PubMed ID: 15253708
    [Abstract] [Full Text] [Related]

  • 18. [TRPC6 mutations in children with steroid-resistant nephrotic syndrome].
    Gigante M, Caridi G, Montemurno E, Trunzo R, Schirinzi A, Aucella F, Messina G, Massella L, Ranieri E, Ghiggeri GM, Gesualdo L.
    G Ital Nefrol; 2011 Aug 01; 28(4):350-2. PubMed ID: 21809298
    [No Abstract] [Full Text] [Related]

  • 19. 254C>G: a TRPC6 promoter variation associated with enhanced transcription and steroid-resistant nephrotic syndrome in Chinese children.
    Kuang XY, Huang WY, Xu H, Shi Y, Zhang XL, Niu XL, Wu Y, Mei CZ, Zha XL, Zhao ZH, Zhang ZG.
    Pediatr Res; 2013 Nov 01; 74(5):511-6. PubMed ID: 23999069
    [Abstract] [Full Text] [Related]

  • 20. Prevalence of WT1 mutations in a large cohort of patients with steroid-resistant and steroid-sensitive nephrotic syndrome.
    Ruf RG, Schultheiss M, Lichtenberger A, Karle SM, Zalewski I, Mucha B, Everding AS, Neuhaus T, Patzer L, Plank C, Haas JP, Ozaltin F, Imm A, Fuchshuber A, Bakkaloglu A, Hildebrandt F, APN Study Group.
    Kidney Int; 2004 Aug 01; 66(2):564-70. PubMed ID: 15253707
    [Abstract] [Full Text] [Related]

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