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252 related items for PubMed ID: 30241959

  • 1. 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]

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

  • 4. 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]

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

  • 7. 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]

  • 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. 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]

  • 10. 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]

  • 11. 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; 66(2):571-9. PubMed ID: 15253708
    [Abstract] [Full Text] [Related]

  • 12. 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; 18(5):412-6. PubMed ID: 12687458
    [Abstract] [Full Text] [Related]

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

  • 14. Nucleotide variations in the NPHS2 gene in Greek children with steroid-resistant nephrotic syndrome.
    Megremis S, Mitsioni A, Mitsioni AG, Fylaktou I, Kitsiou-Tzelli S, Stefanidis CJ, Kanavakis E, Traeger-Synodinos J.
    Genet Test Mol Biomarkers; 2009 Apr; 13(2):249-56. PubMed ID: 19371226
    [Abstract] [Full Text] [Related]

  • 15. 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]

  • 16. In vivo expression of podocyte slit diaphragm-associated proteins in nephrotic patients with NPHS2 mutation.
    Zhang SY, Marlier A, Gribouval O, Gilbert T, Heidet L, Antignac C, Gubler MC.
    Kidney Int; 2004 Sep; 66(3):945-54. PubMed ID: 15327385
    [Abstract] [Full Text] [Related]

  • 17. 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; 426(1-2):177-181. PubMed ID: 27885584
    [Abstract] [Full Text] [Related]

  • 18. 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]

  • 19. 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; 23(9):1455-60. PubMed ID: 18543005
    [Abstract] [Full Text] [Related]

  • 20. [Mutations in NPHS2 in familial steroid-resistant nephrotic syndrome in Southern Chinese Han ethnic group].
    Fu R, Chen XM, Wang QH, Chen SP, Yu ZH, Ye LY, Ren RN, Huang J, Wang CF.
    Zhonghua Er Ke Za Zhi; 2008 Aug; 46(8):591-6. PubMed ID: 19099831
    [Abstract] [Full Text] [Related]

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