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Journal Abstract Search

137 related items for PubMed ID: 30260545

  • 1. The mutation-dependent pathogenicity of NPHS2 p.R229Q: A guide for clinical assessment.
    Mikó Á, K Menyhárd D, Kaposi A, Antignac C, Tory K.
    Hum Mutat; 2018 Dec; 39(12):1854-1860. PubMed ID: 30260545
    [Abstract] [Full Text] [Related]

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

  • 3. The p.R229Q variant of the NPHS2 (podocin) gene in focal segmental glomerulosclerosis and steroid-resistant nephrotic syndrome: a meta-analysis.
    Lu L, Wan H, Yin Y, Feng WJ, Wang M, Zou YC, Huang B, Wang DT, Shi Y, Zhao Y, Wei LB.
    Int Urol Nephrol; 2014 Jul; 46(7):1383-93. PubMed ID: 24715228
    [Abstract] [Full Text] [Related]

  • 4. 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; 8(2):63-75. PubMed ID: 16481888
    [Abstract] [Full Text] [Related]

  • 5. Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant.
    Machuca E, Hummel A, Nevo F, Dantal J, Martinez F, Al-Sabban E, Baudouin V, Abel L, Grünfeld JP, Antignac C.
    Kidney Int; 2009 Apr; 75(7):727-35. PubMed ID: 19145239
    [Abstract] [Full Text] [Related]

  • 6. Nephrotic Syndrome With Mutations in NPHS2: The Role of R229Q and Implications for Genetic Counseling.
    Rood IM, Deegens JKJ, Lugtenberg D, Bongers EMHF, Wetzels JFM.
    Am J Kidney Dis; 2019 Mar; 73(3):400-403. PubMed ID: 30241959
    [Abstract] [Full Text] [Related]

  • 7. 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; 7(5):399-403. PubMed ID: 24072153
    [Abstract] [Full Text] [Related]

  • 8. 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; 110(11):1659-66. PubMed ID: 12464671
    [Abstract] [Full Text] [Related]

  • 9. C-terminal oligomerization of podocin mediates interallelic interactions.
    Stráner P, Balogh E, Schay G, Arrondel C, Mikó Á, L'Auné G, Benmerah A, Perczel A, K Menyhárd D, Antignac C, Mollet G, Tory K.
    Biochim Biophys Acta Mol Basis Dis; 2018 Jul; 1864(7):2448-2457. PubMed ID: 29660491
    [Abstract] [Full Text] [Related]

  • 10. Broadening the spectrum of diseases related to podocin mutations.
    Caridi G, Bertelli R, Di Duca M, Dagnino M, Emma F, Onetti Muda A, Scolari F, Miglietti N, Mazzucco G, Murer L, Carrea A, Massella L, Rizzoni G, Perfumo F, Ghiggeri GM.
    J Am Soc Nephrol; 2003 May; 14(5):1278-86. PubMed ID: 12707396
    [Abstract] [Full Text] [Related]

  • 11. 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; 28(10):2061-4. PubMed ID: 23800802
    [Abstract] [Full Text] [Related]

  • 12. [NPHS2 Mutation analysis study in children with steroid-resistant nephrotic syndrome].
    Azocar M, Vega Á, Farfán M, Cano F.
    Rev Chil Pediatr; 2016 Oct; 87(1):31-6. PubMed ID: 26455708
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. Late onset of familial nephrotic syndrome associated with a compound heterozygous mutation of the podocin-encoding gene.
    Ardiles LG, Carrasco AE, Carpio JD, Mezzano SA.
    Nephrology (Carlton); 2005 Dec 29; 10(6):553-6. PubMed ID: 16354237
    [Abstract] [Full Text] [Related]

  • 15. 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 29; 94(4):187-196. PubMed ID: 32691731
    [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 Oct 29; 58(2):64-8. PubMed ID: 22578956
    [Abstract] [Full Text] [Related]

  • 17. Genetic basis of nephrotic syndrome--review.
    Obeidová H, Merta M, Reiterová J, Maixnerová D, Stekrová J, Rysavá R, Tesar V.
    Prague Med Rep; 2006 Oct 29; 107(1):5-16. PubMed ID: 16752799
    [Abstract] [Full Text] [Related]

  • 18. 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 29; 21(1):127-133. PubMed ID: 26820844
    [Abstract] [Full Text] [Related]

  • 19. 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]

  • 20. The podocin V260E mutation predicts steroid resistant nephrotic syndrome in black South African children with focal segmental glomerulosclerosis.
    Govender MA, Fabian J, Gottlich E, Levy C, Moonsamy G, Maher H, Winkler CA, Ramsay M.
    Commun Biol; 2019 Jan 29; 2():416. PubMed ID: 31754646
    [Abstract] [Full Text] [Related]

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