These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

173 related items for PubMed ID: 10762296

  • 1. Frasier syndrome, part of the Denys Drash continuum or simply a WT1 gene associated disorder of intersex and nephropathy?
    Koziell A, Charmandari E, Hindmarsh PC, Rees L, Scambler P, Brook CG.
    Clin Endocrinol (Oxf); 2000 Apr; 52(4):519-24. PubMed ID: 10762296
    [Abstract] [Full Text] [Related]

  • 2. Effects of Denys-Drash syndrome point mutations on the DNA binding activity of the Wilms' tumor suppressor protein WT1.
    Borel F, Barilla KC, Hamilton TB, Iskandar M, Romaniuk PJ.
    Biochemistry; 1996 Sep 17; 35(37):12070-6. PubMed ID: 8810912
    [Abstract] [Full Text] [Related]

  • 3. 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 17; 17(4):467-70. PubMed ID: 9398852
    [Abstract] [Full Text] [Related]

  • 4. Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms.
    Klamt B, Koziell A, Poulat F, Wieacker P, Scambler P, Berta P, Gessler M.
    Hum Mol Genet; 1998 Apr 17; 7(4):709-14. PubMed ID: 9499425
    [Abstract] [Full Text] [Related]

  • 5. Frasier syndrome: a cause of focal segmental glomerulosclerosis in a 46,XX female.
    Demmer L, Primack W, Loik V, Brown R, Therville N, McElreavey K.
    J Am Soc Nephrol; 1999 Oct 17; 10(10):2215-8. PubMed ID: 10505699
    [Abstract] [Full Text] [Related]

  • 6. Mother-to-child transmitted WT1 splice-site mutation is responsible for distinct glomerular diseases.
    Denamur E, Bocquet N, Mougenot B, Da Silva F, Martinat L, Loirat C, Elion J, Bensman A, Ronco PM.
    J Am Soc Nephrol; 1999 Oct 17; 10(10):2219-23. PubMed ID: 10505700
    [Abstract] [Full Text] [Related]

  • 7. 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 17; 21(10):1393-8. PubMed ID: 16909243
    [Abstract] [Full Text] [Related]

  • 8. Spectrum of early onset nephrotic syndrome associated with WT1 missense mutations.
    Schumacher V, Schärer K, Wühl E, Altrogge H, Bonzel KE, Guschmann M, Neuhaus TJ, Pollastro RM, Kuwertz-Bröking E, Bulla M, Tondera AM, Mundel P, Helmchen U, Waldherr R, Weirich A, Royer-Pokora B.
    Kidney Int; 1998 Jun 17; 53(6):1594-600. PubMed ID: 9607189
    [Abstract] [Full Text] [Related]

  • 9. Clinical spectrum of Denys-Drash and Frasier syndrome.
    McTaggart SJ, Algar E, Chow CW, Powell HR, Jones CL.
    Pediatr Nephrol; 2001 Apr 17; 16(4):335-9. PubMed ID: 11354777
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome.
    Pelletier J, Bruening W, Kashtan CE, Mauer SM, Manivel JC, Striegel JE, Houghton DC, Junien C, Habib R, Fouser L.
    Cell; 1991 Oct 18; 67(2):437-47. PubMed ID: 1655284
    [Abstract] [Full Text] [Related]

  • 12. Refining the Diagnosis of Congenital Nephrotic Syndrome on Long-term Stored Tissue: c.1097G>A (p.(Arg366His)) WT1 Mutation Causing Denys Drash Syndrome.
    Hillen LM, Kamsteeg EJ, Schoots J, Tiebosch AT, Speel EJ, Roemen GM, Peutz-Koostra CJ, Stumpel CT.
    Fetal Pediatr Pathol; 2016 Oct 18; 35(2):112-9. PubMed ID: 26882358
    [Abstract] [Full Text] [Related]

  • 13. Do intronic mutations affecting splicing of WT1 exon 9 cause Frasier syndrome?
    Kikuchi H, Takata A, Akasaka Y, Fukuzawa R, Yoneyama H, Kurosawa Y, Honda M, Kamiyama Y, Hata J.
    J Med Genet; 1998 Jan 18; 35(1):45-8. PubMed ID: 9475094
    [Abstract] [Full Text] [Related]

  • 14. DNA binding capacity of the WT1 protein is abolished by Denys-Drash syndrome WT1 point mutations.
    Little M, Holmes G, Bickmore W, van Heyningen V, Hastie N, Wainwright B.
    Hum Mol Genet; 1995 Mar 18; 4(3):351-8. PubMed ID: 7795587
    [Abstract] [Full Text] [Related]

  • 15.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 16. Congenital diaphragmatic eventration with pulmonary dysplasia in Frasier syndrome due to a WT1 mutation of c.1432+5(IVS9)G>A.
    Zhang B, Ding Y, Ren X, Song C, Zhang X, Wang F, Yang X.
    Eur J Med Genet; 2022 Dec 18; 65(12):104655. PubMed ID: 36341869
    [Abstract] [Full Text] [Related]

  • 17.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 18. WT1 and glomerular diseases.
    Niaudet P, Gubler MC.
    Pediatr Nephrol; 2006 Nov 18; 21(11):1653-60. PubMed ID: 16927106
    [Abstract] [Full Text] [Related]

  • 19. 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 18; 87(6):2500-5. PubMed ID: 12050205
    [Abstract] [Full Text] [Related]

  • 20.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 9.