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154 related items for PubMed ID: 32691731

  • 1. Prevalence of the NPHS2 variants p.R229Q, p.A242V, and p.R138Q in patients with focal segmental glomerulosclerosis.
    de Almeida R, da Silva WC, Garbin HI, Itaquy TP, Dos Santos Pereira F, Garcia CD, Keitel E, Sales Luiz Vianna F, Veronese FV.
    Clin Nephrol; 2020 Oct; 94(4):187-196. PubMed ID: 32691731
    [Abstract] [Full Text] [Related]

  • 2. NPHS2 variation in focal and segmental glomerulosclerosis.
    Tonna SJ, Needham A, Polu K, Uscinski A, Appel GB, Falk RJ, Katz A, Al-Waheeb S, Kaplan BS, Jerums G, Savige J, Harmon J, Zhang K, Curhan GC, Pollak MR.
    BMC Nephrol; 2008 Sep 29; 9():13. PubMed ID: 18823551
    [Abstract] [Full Text] [Related]

  • 3. Podocyte-associated gene mutation screening in a heterogeneous cohort of patients with sporadic focal segmental glomerulosclerosis.
    Laurin LP, Lu M, Mottl AK, Blyth ER, Poulton CJ, Weck KE.
    Nephrol Dial Transplant; 2014 Nov 29; 29(11):2062-9. PubMed ID: 24500309
    [Abstract] [Full Text] [Related]

  • 4. 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 29; 6(2):344-54. PubMed ID: 20947785
    [Abstract] [Full Text] [Related]

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  • 6. NPHS2 homozygous p.R229Q variant: potential modifier instead of causal effect in focal segmental glomerulosclerosis.
    Kerti A, Csohány R, Wagner L, Jávorszky E, Maka E, Tory K.
    Pediatr Nephrol; 2013 Oct 29; 28(10):2061-4. PubMed ID: 23800802
    [Abstract] [Full Text] [Related]

  • 7. 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 29; 181(10):3595-3606. PubMed ID: 35920919
    [Abstract] [Full Text] [Related]

  • 8. Recessive NPHS2 (Podocin) mutations are rare in adult-onset idiopathic focal segmental glomerulosclerosis.
    He N, Zahirieh A, Mei Y, Lee B, Senthilnathan S, Wong B, Mucha B, Hildebrandt F, Cole DE, Cattran D, Pei Y.
    Clin J Am Soc Nephrol; 2007 Jan 29; 2(1):31-7. PubMed ID: 17699384
    [Abstract] [Full Text] [Related]

  • 9. R229Q polymorphism of NPHS2 gene in patients with late-onset steroid-resistance nephrotic syndrome: a preliminary study.
    Fotouhi N, Ardalan M, Jabbarpour Bonyadi M, Abdolmohammadi R, Kamalifar A, Nasri H, Einollahi B.
    Iran J Kidney Dis; 2013 Sep 29; 7(5):399-403. PubMed ID: 24072153
    [Abstract] [Full Text] [Related]

  • 10. NPHS2 variation in sporadic focal segmental glomerulosclerosis.
    McKenzie LM, Hendrickson SL, Briggs WA, Dart RA, Korbet SM, Mokrzycki MH, Kimmel PL, Ahuja TS, Berns JS, Simon EE, Smith MC, Trachtman H, Michel DM, Schelling JR, Cho M, Zhou YC, Binns-Roemer E, Kirk GD, Kopp JB, Winkler CA.
    J Am Soc Nephrol; 2007 Nov 29; 18(11):2987-95. PubMed ID: 17942957
    [Abstract] [Full Text] [Related]

  • 11. NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele.
    Tsukaguchi H, Sudhakar A, Le TC, Nguyen T, Yao J, Schwimmer JA, Schachter AD, Poch E, Abreu PF, Appel GB, Pereira AB, Kalluri R, Pollak MR.
    J Clin Invest; 2002 Dec 29; 110(11):1659-66. PubMed ID: 12464671
    [Abstract] [Full Text] [Related]

  • 12. Association Between NPHS2 p.R229Q and Focal Segmental Glomerular Sclerosis/Steroid-Resistant Nephrotic Syndrome.
    Zhou Q, Weng Q, Zhang X, Liu Y, Tong J, Hao X, Shi H, Shen P, Ren H, Xie J, Chen N.
    Front Med (Lausanne); 2022 Dec 29; 9():937122. PubMed ID: 35935761
    [Abstract] [Full Text] [Related]

  • 13. NPHS2 gene, nephrotic syndrome and focal segmental glomerulosclerosis: a HuGE review.
    Franceschini N, North KE, Kopp JB, McKenzie L, Winkler C.
    Genet Med; 2006 Feb 29; 8(2):63-75. PubMed ID: 16481888
    [Abstract] [Full Text] [Related]

  • 14. Spectrum of NPHS1 and NPHS2 variants in egyptian children with focal segmental glomerular sclerosis: identification of six novel variants and founder effect.
    Thomas MM, Ahmed HM, El-Dessouky SH, Ramadan A, Botrous OE, Abdel-Hamid MS.
    Mol Genet Genomics; 2022 May 29; 297(3):689-698. PubMed ID: 35278126
    [Abstract] [Full Text] [Related]

  • 15. Molecular analysis of NPHS2 and ACTN4 genes in a series of 33 Italian patients affected by adult-onset nonfamilial focal segmental glomerulosclerosis.
    Aucella F, De Bonis P, Gatta G, Muscarella LA, Vigilante M, di Giorgio G, D'Errico M, Zelante L, Stallone C, Bisceglia L.
    Nephron Clin Pract; 2005 May 29; 99(2):c31-6. PubMed ID: 15627790
    [Abstract] [Full Text] [Related]

  • 16. Mutational analysis of the NPHS2 gene in Czech patients with idiopathic nephrotic syndrome.
    Reiterová J, Safránková H, Obeidová L, Stěkrová J, Maixnerová D, Merta M, Tesař V.
    Folia Biol (Praha); 2012 May 29; 58(2):64-8. PubMed ID: 22578956
    [Abstract] [Full Text] [Related]

  • 17. Familial focal segmental glomerulosclerosis (FSGS) in a Nigerian family and exclusion of mutations in NPHS2,WT1 and APOL1.
    Anochie IC, Eke FU, Okpere AN.
    West Afr J Med; 2012 May 29; 31(4):273-6. PubMed ID: 23468032
    [Abstract] [Full Text] [Related]

  • 18. 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 29; 66(2):571-9. PubMed ID: 15253708
    [Abstract] [Full Text] [Related]

  • 19. NPHS2 mutations in sporadic steroid-resistant nephrotic syndrome in Japanese children.
    Maruyama K, Iijima K, Ikeda M, Kitamura A, Tsukaguchi H, Yoshiya K, Hoshii S, Wada N, Uemura O, Satomura K, Honda M, Yoshikawa N.
    Pediatr Nephrol; 2003 May 29; 18(5):412-6. PubMed ID: 12687458
    [Abstract] [Full Text] [Related]

  • 20. Retrospective mutational analysis of NPHS1, NPHS2, WT1 and LAMB2 in children with steroid-resistant focal segmental glomerulosclerosis - a single-centre experience.
    Bińczak-Kuleta A, Rubik J, Litwin M, Ryder M, Lewandowska K, Taryma-Leśniak O, Clark JS, Grenda R, Ciechanowicz A.
    Bosn J Basic Med Sci; 2014 May 29; 14(2):89-93. PubMed ID: 24856380
    [Abstract] [Full Text] [Related]

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