Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 112

1.

Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible.

Hinkes B, Wiggins RC, Gbadegesin R, Vlangos CN, Seelow D, Nürnberg G, Garg P, Verma R, Chaib H, Hoskins BE, Ashraf S, Becker C, Hennies HC, Goyal M, Wharram BL, Schachter AD, Mudumana S, Drummond I, Kerjaschki D, Waldherr R, Dietrich A, Ozaltin F, Bakkaloglu A, Cleper R, Basel-Vanagaite L, Pohl M, Griebel M, Tsygin AN, Soylu A, Müller D, Sorli CS, Bunney TD, Katan M, Liu J, Attanasio M, O'toole JF, Hasselbacher K, Mucha B, Otto EA, Airik R, Kispert A, Kelley GG, Smrcka AV, Gudermann T, Holzman LB, Nürnberg P, Hildebrandt F.

Nat Genet. 2006 Dec;38(12):1397-405. Epub 2006 Nov 5.

PMID:
17086182
2.

Mutational analysis of the PLCE1 gene in steroid resistant nephrotic syndrome.

Boyer O, Benoit G, Gribouval O, Nevo F, Pawtowski A, Bilge I, Bircan Z, Deschênes G, Guay-Woodford LM, Hall M, Macher MA, Soulami K, Stefanidis CJ, Weiss R, Loirat C, Gubler MC, Antignac C.

J Med Genet. 2010 Jul;47(7):445-52. doi: 10.1136/jmg.2009.076166.

3.

Identification of BRAF as a new interactor of PLCepsilon1, the protein mutated in nephrotic syndrome type 3.

Chaib H, Hoskins BE, Ashraf S, Goyal M, Wiggins RC, Hildebrandt F.

Am J Physiol Renal Physiol. 2008 Jan;294(1):F93-9. Epub 2007 Oct 17.

4.

Familial nephrotic syndrome: PLCE1 enters the fray.

Jefferson JA, Shankland SJ.

Nephrol Dial Transplant. 2007 Jul;22(7):1849-52. Epub 2007 Apr 20. Review. No abstract available.

PMID:
17449496
5.

NPHS3: new clues for understanding idiopathic nephrotic syndrome.

Hinkes BG.

Pediatr Nephrol. 2008 Jun;23(6):847-50. doi: 10.1007/s00467-008-0747-8.

PMID:
18270750
6.

Mutations in NPHS2 encoding podocin are a prevalent cause of steroid-resistant nephrotic syndrome among Israeli-Arab children.

Frishberg Y, Rinat C, Megged O, Shapira E, Feinstein S, Raas-Rothschild A.

J Am Soc Nephrol. 2002 Feb;13(2):400-5.

7.

Analysis of recessive CD2AP and ACTN4 mutations in steroid-resistant nephrotic syndrome.

Benoit G, Machuca E, Nevo F, Gribouval O, Lepage D, Antignac C.

Pediatr Nephrol. 2010 Mar;25(3):445-51. doi: 10.1007/s00467-009-1372-x. Epub 2009 Dec 3.

PMID:
19956976
8.

Exclusion of homozygous PLCE1 (NPHS3) mutations in 69 families with idiopathic and hereditary FSGS.

Gbadegesin R, Bartkowiak B, Lavin PJ, Mukerji N, Wu G, Bowling B, Eckel J, Damodaran T, Winn MP.

Pediatr Nephrol. 2009 Feb;24(2):281-5. doi: 10.1007/s00467-008-1025-5. Epub 2008 Oct 31.

9.

A new piece in the nephrotic puzzle.

Quaggin SE.

Nat Genet. 2006 Dec;38(12):1360-1. No abstract available.

PMID:
17133219
10.

[Changing ideas about the nephrotic syndrome].

Cornacchia F.

G Ital Nefrol. 2007 Mar-Apr;24(2):106. Italian. No abstract available.

PMID:
17458821
11.

Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome.

Karle SM, Uetz B, Ronner V, Glaeser L, Hildebrandt F, Fuchshuber A.

J Am Soc Nephrol. 2002 Feb;13(2):388-93.

12.

Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS).

Gbadegesin R, Hinkes BG, Hoskins BE, Vlangos CN, Heeringa SF, Liu J, Loirat C, Ozaltin F, Hashmi S, Ulmer F, Cleper R, Ettenger R, Antignac C, Wiggins RC, Zenker M, Hildebrandt F.

Nephrol Dial Transplant. 2008 Apr;23(4):1291-7. Epub 2007 Dec 8.

PMID:
18065803
13.

TRPC6 mutations in children with steroid-resistant nephrotic syndrome and atypical phenotype.

Gigante M, Caridi G, Montemurno E, Soccio M, d'Apolito M, Cerullo G, Aucella F, Schirinzi A, Emma F, Massella L, Messina G, De Palo T, Ranieri E, Ghiggeri GM, Gesualdo L.

Clin J Am Soc Nephrol. 2011 Jul;6(7):1626-34. doi: 10.2215/CJN.07830910.

14.

NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome.

Boute N, Gribouval O, Roselli S, Benessy F, Lee H, Fuchshuber A, Dahan K, Gubler MC, Niaudet P, Antignac C.

Nat Genet. 2000 Apr;24(4):349-54. Erratum in: Nat Genet 2000 May;25(1):125.

PMID:
10742096
15.

Disruption of PTPRO causes childhood-onset nephrotic syndrome.

Ozaltin F, Ibsirlioglu T, Taskiran EZ, Baydar DE, Kaymaz F, Buyukcelik M, Kilic BD, Balat A, Iatropoulos P, Asan E, Akarsu NA, Schaefer F, Yilmaz E, Bakkaloglu A; PodoNet Consortium.

Am J Hum Genet. 2011 Jul 15;89(1):139-47. doi: 10.1016/j.ajhg.2011.05.026. Epub 2011 Jun 30.

16.

Genetic forms of nephrotic syndrome: a single-center experience in Brussels.

Ismaili K, Pawtowski A, Boyer O, Wissing KM, Janssen F, Hall M.

Pediatr Nephrol. 2009 Feb;24(2):287-94. doi: 10.1007/s00467-008-0953-4. Epub 2008 Aug 16. Erratum in: Pediatr Nephrol. 2009 Feb;24(2):425. Pawtowski, Audrey [added]; Boyer, Olivia [added].

PMID:
18709391
17.

Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome.

Lovric S, Fang H, Vega-Warner V, Sadowski CE, Gee HY, Halbritter J, Ashraf S, Saisawat P, Soliman NA, Kari JA, Otto EA, Hildebrandt F; Nephrotic Syndrome Study Group.

Clin J Am Soc Nephrol. 2014 Jun 6;9(6):1109-16. doi: 10.2215/CJN.09010813. Epub 2014 Apr 17.

18.

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. Epub 2003 Apr 5.

PMID:
12687458
19.

CD2AP mutations are associated with sporadic nephrotic syndrome and focal segmental glomerulosclerosis (FSGS).

Gigante M, Pontrelli P, Montemurno E, Roca L, Aucella F, Penza R, Caridi G, Ranieri E, Ghiggeri GM, Gesualdo L.

Nephrol Dial Transplant. 2009 Jun;24(6):1858-64. doi: 10.1093/ndt/gfn712. Epub 2009 Jan 7.

PMID:
19131354
20.

Molecular pathology of nephrotic syndrome in childhood: a contemporary approach to diagnosis.

Liapis H.

Pediatr Dev Pathol. 2008 Jul-Aug;11(4):154-63. doi: 10.2350/07-11-0375.1. Review.

PMID:
18462046

Supplemental Content

Support Center