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, D.P., 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.
Published in Clinical genetics (01.11.2017)
Published in Clinical genetics (01.11.2017)
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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
Published in Clinical genetics (01.03.2012)
Published in Clinical genetics (01.03.2012)
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PKD2, a Gene for Polycystic Kidney Disease That Encodes an Integral Membrane Protein
Mochizuki, Toshio, Wu, Guanqing, Hayashi, Tomohito, Xenophontos, Stavroulla L., Veldhuisen, Barbera, Saris, Jasper J., Reynolds, David M., Cai, Yiqiang, Gabow, Patricia A., Pierides, Alkis, Kimberling, William J., Breuning, Martijn H., Deltas, C. Constantinou, Dorien J. M. Peters, Somlo, Stefan
Published in Science (American Association for the Advancement of Science) (31.05.1996)
Published in Science (American Association for the Advancement of Science) (31.05.1996)
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Genetic evidence for a trans-heterozygous model for cystogenesis in autosomal dominant polycystic kidney disease
KOPTIDES, M, MEAN, R, DEMETRIOU, K, PIERIDES, A, DELTAS, C. C
Published in Human molecular genetics (12.02.2000)
Published in Human molecular genetics (12.02.2000)
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X-linked, COL4A5 hypomorphic Alport mutations such as G624D and P628L may only exhibit thin basement membrane nephropathy with microhematuria and late onset kidney failure
Pierides, A, Voskarides, K, Kkolou, M, Hadjigavriel, M, Deltas, C
Published in Hippokratia (01.01.2013)
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Published in Hippokratia (01.01.2013)
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Chromosome 1 Localization of a Gene for Autosomal Dominant Medullary Cystic Kidney Disease (ADMCKD)
Christodoulou, Kyproula, Tsingis, Marios, Stavrou, Christoforos, Eleftheriou, Andri, Papapavlou, Petros, Patsalis, Philippos C., Ioannou, Panos, Pierides, Alkis, Constantinou Deltas, C.
Published in Human molecular genetics (01.05.1998)
Published in Human molecular genetics (01.05.1998)
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Non-isotopic RNase cleavage assay for mutation detection in MEFV, the gene responsible for familial Mediterranean fever, in a cohort of Greek patients
Ritis, K, Giaglis, S, Spathari, N, Micheli, A, Zonios, D, Tzoanopoulos, D, Deltas, C C, Rafail, S, Mean, R, Papadopoulos, V, Tzioufas, A G, Moutsopoulos, H M, Kartalis, G
Published in Annals of the rheumatic diseases (01.04.2004)
Published in Annals of the rheumatic diseases (01.04.2004)
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Molecular investigation and long-term clinical progress in Greek Cypriot families with recessive distal renal tubular acidosis and sensorineural deafness due to mutations in the ATP6V1B1 gene
Feldman, M, Prikis, M, Athanasiou, Y, Elia, A, Pierides, A, Deltas, CC
Published in Clinical genetics (01.02.2006)
Published in Clinical genetics (01.02.2006)
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Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing
WOLF, Matthias T. F, MUCHA, Bettina E, HILDEBRANDT, Friedhelm, HENNIES, Hans C, ATTANASIO, Massimo, PANTHER, Franziska, ZALEWSKI, Isabella, KARLE, Stephanie M, OTTO, Edgar A, DELTAS, C. Constantinou, FUCHSHUBER, Arno
Published in Human genetics (01.07.2006)
Published in Human genetics (01.07.2006)
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Autosomal-dominant medullary cystic kidney disease type 1: Clinical and molecular findings in six large Cypriot families
Stavrou, Christoforos, Koptides, Michael, Tombazos, Christos, Psara, Evlalia, Patsias, Charalambos, Zouvani, Ioanna, Kyriacou, Kyriacos, Hildebrandt, Friedhelm, Christofides, Tasos, Pierides, Alkis, Deltas, C. Constantinou
Published in Kidney international (01.10.2002)
Published in Kidney international (01.10.2002)
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