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Frequent COL4 mutations in familial microhematuria accompanied by later-onset Alport nephropathy due to focal segmental glomerulosclerosis.
Papazachariou L, Papagregoriou G, Hadjipanagi D, Demosthenous P, Voskarides K, Koutsofti C, Stylianou K, Ioannou P, Xydakis D, Tzanakis I, Papadaki A, Kallivretakis N, Nikolakakis N, Perysinaki G, Gale DP, Diamantopoulos A, Goudas P, Goumenos D, Soloukides A, Boletis I, Melexopoulou C, Georgaki E, Frysira E, Komianou F, Grekas D, Paliouras C, Alivanis P, Vergoulas G, Pierides A, Daphnis E, Deltas C. Papazachariou L, et al. Among authors: georgaki e. Clin Genet. 2017 Nov;92(5):517-527. doi: 10.1111/cge.13077. Epub 2017 Sep 25. Clin Genet. 2017. PMID: 28632965
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. Demosthenous P, et al. Among authors: georgaki e. Clin Genet. 2012 Mar;81(3):240-8. doi: 10.1111/j.1399-0004.2011.01647.x. Epub 2011 Mar 13. Clin Genet. 2012. PMID: 21332469
Novel and Founder Pathogenic Variants in X-Linked Alport Syndrome Families in Greece.
Hadjipanagi D, Papagregoriou G, Koutsofti C, Polydorou C, Alivanis P, Andrikos A, Christodoulidou S, Dardamanis M, Diamantopoulos AA, Fountoglou A, Frangou E, Georgaki E, Giannikouris I, Gkinis V, Goudas PC, Kalaitzidis RG, Kaperonis N, Koutroumpas G, Makrydimas G, Myserlis G, Mitsioni A, Paliouras C, Papachristou F, Papadopoulou D, Papagalanis N, Papagianni A, Perysinaki G, Siomou E, Sombolos K, Tzanakis I, Vergoulas GV, Printza N, Deltas C. Hadjipanagi D, et al. Among authors: georgaki e. Genes (Basel). 2022 Nov 24;13(12):2203. doi: 10.3390/genes13122203. Genes (Basel). 2022. PMID: 36553470 Free PMC article.
Skin biopsy for the diagnosis of Alport syndrome.
Lagona E, Tsartsali L, Kostaridou S, Skiathitou A, Georgaki E, Sotsiou F. Lagona E, et al. Among authors: georgaki e. Hippokratia. 2008 Apr;12(2):116-8. Hippokratia. 2008. PMID: 18923659 Free PMC article.
13 results