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Items: 10

1.

Frequency of COL4A3/COL4A4 mutations amongst families segregating glomerular microscopic hematuria and evidence for activation of the unfolded protein response. Focal and segmental glomerulosclerosis is a frequent development during ageing.

Papazachariou L, Demosthenous P, Pieri M, Papagregoriou G, Savva I, Stavrou C, Zavros M, Athanasiou Y, Ioannou K, Patsias C, Panagides A, Potamitis C, Demetriou K, Prikis M, Hadjigavriel M, Kkolou M, Loukaidou P, Pastelli A, Michael A, Lazarou A, Arsali M, Damianou L, Goutziamani I, Soloukides A, Yioukas L, Elia A, Zouvani I, Polycarpou P, Pierides A, Voskarides K, Deltas C.

PLoS One. 2014 Dec 16;9(12):e115015. doi: 10.1371/journal.pone.0115015. eCollection 2014.

2.

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.

3.

X-linked Alport syndrome in Hellenic families: phenotypic heterogeneity and mutations near interruptions of the collagen domain in COL4A5.

Demosthenous P, Voskarides K, Stylianou K, Hadjigavriel M, Arsali M, Patsias C, Georgaki E, Zirogiannis P, Stavrou C, Daphnis E, Pierides A, Deltas C; Hellenic Nephrogenetics Research Consortium.

Clin Genet. 2012 Mar;81(3):240-8. doi: 10.1111/j.1399-0004.2011.01647.x. Epub 2011 Mar 13.

PMID:
21332469
4.

Founder mutations in the ATP6V1B1 gene explain most Cypriot cases of distal renal tubular acidosis: first prenatal diagnosis.

Elia A, Voskarides K, Demosthenous P, Michalopoulou A, Malliarou MA, Georgaki E, Athanasiou Y, Patsias C, Pierides A, Deltas C.

Nephron Clin Pract. 2011;117(3):c206-12. doi: 10.1159/000320192. Epub 2010 Aug 30.

PMID:
20805693
5.

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.

PMID:
19357112
6.

Incidence of thin basement membrane nephropathy in 990 consecutive renal biopsies examined with electron microscopy.

Zouvani I, Aristodemou S, Hadjisavvas A, Michael T, Vassiliou M, Patsias C, Pierides A, Ioannou K, Kyriacou K.

Ultrastruct Pathol. 2008 Nov-Dec;32(6):221-6. doi: 10.1080/01913120802529859.

PMID:
19117263
7.

COL4A3 founder mutations in Greek-Cypriot families with thin basement membrane nephropathy and focal segmental glomerulosclerosis dating from around 18th century.

Voskarides K, Patsias C, Pierides A, Deltas C.

Genet Test. 2008 Jun;12(2):273-8. doi: 10.1089/gte.2007.0110.

PMID:
18439107
8.

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.

9.

Autosomal-dominant medullary cystic kidney disease type 1: clinical and molecular findings in six large Cypriot families.

Stavrou C, Koptides M, Tombazos C, Psara E, Patsias C, Zouvani I, Kyriacou K, Hildebrandt F, Christofides T, Pierides A, Deltas CC.

Kidney Int. 2002 Oct;62(4):1385-94. Erratum in: Kidney Int 2002 Nov;62(5):1920..

10.

Thin glomerular basement membranes in patients with hematuria and minimal change disease.

Marquez B, Stavrou F, Zouvani I, Anastasiades E, Patsias C, Pierides A, Kyriacou K.

Ultrastruct Pathol. 1999 May-Jun;23(3):149-56.

PMID:
10445281

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