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1.

Familial C3 glomerulopathy associated with CFHR5 mutations: clinical characteristics of 91 patients in 16 pedigrees.

Athanasiou Y, Voskarides K, Gale DP, Damianou L, Patsias C, Zavros M, Maxwell PH, Cook HT, Demosthenous P, Hadjisavvas A, Kyriacou K, Zouvani I, Pierides A, Deltas C.

Clin J Am Soc Nephrol. 2011 Jun;6(6):1436-46. doi: 10.2215/CJN.09541010. Epub 2011 May 12.

2.

Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis.

Gale DP, de Jorge EG, Cook HT, Martinez-Barricarte R, Hadjisavvas A, McLean AG, Pusey CD, Pierides A, Kyriacou K, Athanasiou Y, Voskarides K, Deltas C, Palmer A, Frémeaux-Bacchi V, de Cordoba SR, Maxwell PH, Pickering MC.

Lancet. 2010 Sep 4;376(9743):794-801. doi: 10.1016/S0140-6736(10)60670-8. Epub 2010 Aug 25.

3.

C3 glomerulonephritis/CFHR5 nephropathy is an endemic disease in Cyprus: clinical and molecular findings in 21 families.

Deltas C, Gale D, Cook T, Voskarides K, Athanasiou Y, Pierides A.

Adv Exp Med Biol. 2013;735:189-96. Review.

PMID:
23402027
4.

C3 glomerulopathy: clinicopathologic features and predictors of outcome.

Medjeral-Thomas NR, O'Shaughnessy MM, O'Regan JA, Traynor C, Flanagan M, Wong L, Teoh CW, Awan A, Waldron M, Cairns T, O'Kelly P, Dorman AM, Pickering MC, Conlon PJ, Cook HT.

Clin J Am Soc Nephrol. 2014 Jan;9(1):46-53. doi: 10.2215/CJN.04700513. Epub 2013 Oct 31.

5.

Recurrence of complement factor H-related protein 5 nephropathy in a renal transplant.

Vernon KA, Gale DP, de Jorge EG, McLean AG, Galliford J, Pierides A, Maxwell PH, Taube D, Pickering MC, Cook HT.

Am J Transplant. 2011 Jan;11(1):152-5. doi: 10.1111/j.1600-6143.2010.03333.x. Epub 2010 Nov 29.

6.

Clinico-pathological correlations in 127 patients in 11 large pedigrees, segregating one of three heterozygous mutations in the COL4A3/ COL4A4 genes associated with familial haematuria and significant late progression to proteinuria and chronic kidney disease from focal segmental glomerulosclerosis.

Pierides A, Voskarides K, Athanasiou Y, Ioannou K, Damianou L, Arsali M, Zavros M, Pierides M, Vargemezis V, Patsias C, Zouvani I, Elia A, Kyriacou K, Deltas C.

Nephrol Dial Transplant. 2009 Sep;24(9):2721-9. doi: 10.1093/ndt/gfp158. Epub 2009 Apr 8.

7.

Evidence that NPHS2-R229Q predisposes to proteinuria and renal failure in familial hematuria.

Voskarides K, Arsali M, Athanasiou Y, Elia A, Pierides A, Deltas C.

Pediatr Nephrol. 2012 Apr;27(4):675-9. doi: 10.1007/s00467-011-2084-6. Epub 2012 Jan 8.

PMID:
22228437
8.

A large family with a gain-of-function mutation of complement C3 predisposing to atypical hemolytic uremic syndrome, microhematuria, hypertension and chronic renal failure.

Lhotta K, Janecke AR, Scheiring J, Petzlberger B, Giner T, Fally V, Würzner R, Zimmerhackl LB, Mayer G, Fremeaux-Bacchi V.

Clin J Am Soc Nephrol. 2009 Aug;4(8):1356-62. doi: 10.2215/CJN.06281208. Epub 2009 Jul 9.

9.

C3 glomerulonephritis: clinicopathological findings, complement abnormalities, glomerular proteomic profile, treatment, and follow-up.

Sethi S, Fervenza FC, Zhang Y, Zand L, Vrana JA, Nasr SH, Theis JD, Dogan A, Smith RJ.

Kidney Int. 2012 Aug;82(4):465-73.

PMID:
22673887
10.

Acquired and genetic complement abnormalities play a critical role in dense deposit disease and other C3 glomerulopathies.

Servais A, Noël LH, Roumenina LT, Le Quintrec M, Ngo S, Dragon-Durey MA, Macher MA, Zuber J, Karras A, Provot F, Moulin B, Grünfeld JP, Niaudet P, Lesavre P, Frémeaux-Bacchi V.

Kidney Int. 2012 Aug;82(4):454-64. doi: 10.1038/ki.2012.63. Epub 2012 Mar 28.

PMID:
22456601
11.

A novel CFHR5 fusion protein causes C3 glomerulopathy in a family without Cypriot ancestry.

Medjeral-Thomas N, Malik TH, Patel MP, Toth T, Cook HT, Tomson C, Pickering MC.

Kidney Int. 2014 Apr;85(4):933-7. doi: 10.1038/ki.2013.348. Epub 2013 Sep 25.

12.

Molecular genetics of familial hematuric diseases.

Deltas C, Pierides A, Voskarides K.

Nephrol Dial Transplant. 2013 Dec;28(12):2946-60. doi: 10.1093/ndt/gft253. Epub 2013 Sep 17. Review.

PMID:
24046192
13.

Membranous glomerulonephritis with ANCA-associated necrotizing and crescentic glomerulonephritis.

Nasr SH, Said SM, Valeri AM, Stokes MB, Masani NN, D'Agati VD, Markowitz GS.

Clin J Am Soc Nephrol. 2009 Feb;4(2):299-308. doi: 10.2215/CJN.04060808. Epub 2009 Jan 21.

14.

Hereditary glomerulonephritis of non-Alport type.

Doherty CC, Middleton DT, Hill CM.

Proc Eur Dial Transplant Assoc. 1983;19:575-81.

PMID:
6878256
15.

C3 glomerulonephritis and CFHR5 nephropathy.

Gale DP, Maxwell PH.

Nephrol Dial Transplant. 2013 Feb;28(2):282-8. doi: 10.1093/ndt/gfs441. Epub 2012 Nov 2. Review.

16.

COL4A3/COL4A4 mutations producing focal segmental glomerulosclerosis and renal failure in thin basement membrane nephropathy.

Voskarides K, Damianou L, Neocleous V, Zouvani I, Christodoulidou S, Hadjiconstantinou V, Ioannou K, Athanasiou Y, Patsias C, Alexopoulos E, Pierides A, Kyriacou K, Deltas C.

J Am Soc Nephrol. 2007 Nov;18(11):3004-16. Epub 2007 Oct 17.

17.

Relative role of genetic complement abnormalities in sporadic and familial aHUS and their impact on clinical phenotype.

Noris M, Caprioli J, Bresin E, Mossali C, Pianetti G, Gamba S, Daina E, Fenili C, Castelletti F, Sorosina A, Piras R, Donadelli R, Maranta R, van der Meer I, Conway EM, Zipfel PF, Goodship TH, Remuzzi G.

Clin J Am Soc Nephrol. 2010 Oct;5(10):1844-59. doi: 10.2215/CJN.02210310. Epub 2010 Jul 1.

18.

Primary glomerulonephritis with isolated C3 deposits: a new entity which shares common genetic risk factors with haemolytic uraemic syndrome.

Servais A, Frémeaux-Bacchi V, Lequintrec M, Salomon R, Blouin J, Knebelmann B, Grünfeld JP, Lesavre P, Noël LH, Fakhouri F.

J Med Genet. 2007 Mar;44(3):193-9. Epub 2006 Oct 3.

19.

C3 glomerulopathy.

Servais A, Noël LH, Frémeaux-Bacchi V, Lesavre P.

Contrib Nephrol. 2013;181:185-93. doi: 10.1159/000348654. Epub 2013 May 8. Review.

PMID:
23689580
20.

C3 glomerulonephritis associated with a missense mutation in the factor H gene.

Sugimoto K, Fujita S, Miyazaki K, Okada M, Takemura T.

Tohoku J Exp Med. 2012;227(3):211-5.

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