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Journal Abstract Search

132 related items for PubMed ID: 27719739

  • 1. Early recognition of gonadal dysgenesis in congenital nephrotic syndrome
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    Ukarapong S, Berkovitz G, McElreavey K, Bashamboo A, Bao Y.
    Clin Nephrol; 2016 Dec; 86 (2016)(12):341-344. PubMed ID: 27719739
    [Abstract] [Full Text] [Related]

  • 2. 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; 66(2):564-70. PubMed ID: 15253707
    [Abstract] [Full Text] [Related]

  • 3. WT1 and NPHS2 mutations in Korean children with steroid-resistant nephrotic syndrome.
    Cho HY, Lee JH, Choi HJ, Lee BH, Ha IS, Choi Y, Cheong HI.
    Pediatr Nephrol; 2008 Jan; 23(1):63-70. PubMed ID: 17934764
    [Abstract] [Full Text] [Related]

  • 4. WT1 mutations in nephrotic syndrome revisited. High prevalence in young girls, associations and renal phenotypes.
    Aucella F, Bisceglia L, De Bonis P, Gigante M, Caridi G, Barbano G, Mattioli G, Perfumo F, Gesualdo L, Ghiggeri GM.
    Pediatr Nephrol; 2006 Oct; 21(10):1393-8. PubMed ID: 16909243
    [Abstract] [Full Text] [Related]

  • 5. Mutations in WT1 in boys with sporadic isolated steroid-resistant nephrotic syndrome.
    Yang Y, Zhao F, Tu X, Yu Z.
    Genet Mol Res; 2016 Mar 11; 15(1):15017559. PubMed ID: 26985958
    [Abstract] [Full Text] [Related]

  • 6. Wilms' tumor suppressor gene mutations in girls with sporadic isolated steroid-resistant nephrotic syndrome.
    Yang YH, Zhao F, Feng DN, Wang JJ, Wang CF, Huang J, Nie XJ, Xia GZ, Chen GM, Yu ZH.
    Genet Mol Res; 2013 Dec 04; 12(4):6184-91. PubMed ID: 24338413
    [Abstract] [Full Text] [Related]

  • 7. Wilms' tumour 1 gene mutations in south Indian children with steroid-resistant nephrotic syndrome.
    Kumar AS, Srilakshmi R, Karthickeyan S, Balakrishnan K, Padmaraj R, Senguttuvan P.
    Indian J Med Res; 2016 Aug 04; 144(2):276-280. PubMed ID: 27934809
    [Abstract] [Full Text] [Related]

  • 8. 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 04; 426(1-2):177-181. PubMed ID: 27885584
    [Abstract] [Full Text] [Related]

  • 9. Broad and unexpected phenotypic expression in Greek children with steroid-resistant nephrotic syndrome due to mutations in the Wilms' tumor 1 (WT1) gene.
    Megremis S, Mitsioni A, Fylaktou I, Tzeli SK, Komianou F, Stefanidis CJ, Kanavakis E, Traeger-Synodinos J.
    Eur J Pediatr; 2011 Dec 04; 170(12):1529-34. PubMed ID: 21499692
    [Abstract] [Full Text] [Related]

  • 10. Genotype-phenotype analysis of pediatric patients with WT1 glomerulopathy.
    Ahn YH, Park EJ, Kang HG, Kim SH, Cho HY, Shin JI, Lee JH, Park YS, Kim KS, Ha IS, Cheong HI.
    Pediatr Nephrol; 2017 Jan 04; 32(1):81-89. PubMed ID: 27300205
    [Abstract] [Full Text] [Related]

  • 11. Clinical characteristics and WT1 genetic analysis of patients with steroid resistant nephrotic syndrome accompanied with genitourinary malformations.
    Li JG, Zhao D, Ding J, Xiao HJ, Guan N, Fan QF, Zhang HW.
    Zhong Nan Da Xue Xue Bao Yi Xue Ban; 2007 Dec 04; 32(6):949-57. PubMed ID: 18182709
    [Abstract] [Full Text] [Related]

  • 12. [Clinical characteristics and WT1 genetic analysis of patients with steroid-resistant nephrotic syndrome accompanied with genitourinary malformations].
    Li JG, Zhao D, Ding J, Xiao HJ, Fan QF, Guan N, Chen Y, Zhang HW.
    Zhonghua Er Ke Za Zhi; 2008 Sep 04; 46(9):692-7. PubMed ID: 19099861
    [Abstract] [Full Text] [Related]

  • 13. Frasier syndrome: four new cases with unusual presentations.
    Guaragna MS, Lutaif AC, Bittencourt VB, Piveta CS, Soardi FC, Castro LC, Belangero VM, Maciel-Guerra AT, Guerra-Junior G, Mello MP.
    Arq Bras Endocrinol Metabol; 2012 Nov 04; 56(8):525-32. PubMed ID: 23295293
    [Abstract] [Full Text] [Related]

  • 14. A Unique Presentation of XY Gonadal Dysgenesis in Frasier Syndrome due to WT1 Mutation and a Literature Review.
    Lavi E, Zighan M, Abu Libdeh A, Klopstock T, Weinberg-Shukron A, Renbaum P, Levy-Lahad E, Zangen D.
    Pediatr Endocrinol Rev; 2020 Aug 04; 17(4):302-307. PubMed ID: 32780953
    [Abstract] [Full Text] [Related]

  • 15. WT1 gene mutations in Chinese children with early onset nephrotic syndrome.
    Li J, Ding J, Zhao D, Yu Z, Fan Q, Chen Y, Zhang H, Zhong X, Huang J, Yao Y, Xiao H.
    Pediatr Res; 2010 Aug 04; 68(2):155-8. PubMed ID: 20442690
    [Abstract] [Full Text] [Related]

  • 16. An unusual phenotype of Frasier syndrome due to IVS9 +4C>T mutation in the WT1 gene: predominantly male ambiguous genitalia and absence of gonadal dysgenesis.
    Melo KF, Martin RM, Costa EM, Carvalho FM, Jorge AA, Arnhold IJ, Mendonca BB.
    J Clin Endocrinol Metab; 2002 Jun 04; 87(6):2500-5. PubMed ID: 12050205
    [Abstract] [Full Text] [Related]

  • 17. A female infant with Frasier syndrome showing splice site mutation in Wilms' tumor gene (WT1) intron 9.
    Fujita S, Sugimoto K, Miyazawa T, Yanagida H, Tabata N, Okada M, Takemura T.
    Clin Nephrol; 2010 Jun 04; 73(6):487-91. PubMed ID: 20497763
    [Abstract] [Full Text] [Related]

  • 18. Donor splice-site mutations in WT1 are responsible for Frasier syndrome.
    Barbaux S, Niaudet P, Gubler MC, Grünfeld JP, Jaubert F, Kuttenn F, Fékété CN, Souleyreau-Therville N, Thibaud E, Fellous M, McElreavey K.
    Nat Genet; 1997 Dec 04; 17(4):467-70. PubMed ID: 9398852
    [Abstract] [Full Text] [Related]

  • 19. Genotype-phenotype associations in WT1 glomerulopathy.
    Lipska BS, Ranchin B, Iatropoulos P, Gellermann J, Melk A, Ozaltin F, Caridi G, Seeman T, Tory K, Jankauskiene A, Zurowska A, Szczepanska M, Wasilewska A, Harambat J, Trautmann A, Peco-Antic A, Borzecka H, Moczulska A, Saeed B, Bogdanovic R, Kalyoncu M, Simkova E, Erdogan O, Vrljicak K, Teixeira A, Azocar M, Schaefer F, PodoNet Consortium.
    Kidney Int; 2014 May 04; 85(5):1169-78. PubMed ID: 24402088
    [Abstract] [Full Text] [Related]

  • 20. WT1 deletion leading to severe 46,XY gonadal dysgenesis, Wilms tumor and gonadoblastoma: case report.
    Finken MJ, Hendriks YM, van der Voorn JP, Veening MA, Lombardi MP, Rotteveel J.
    Horm Res Paediatr; 2015 May 04; 83(3):211-6. PubMed ID: 25613702
    [Abstract] [Full Text] [Related]

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