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Page 1
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: deltas c. Genes (Basel). 2022 Nov 24;13(12):2203. doi: 10.3390/genes13122203. Genes (Basel). 2022. PMID: 36553470 Free PMC article.
Refinement of the gene locus for autosomal dominant medullary cystic kidney disease type 1 (MCKD1) and construction of a physical and partial transcriptional map of the region.
Fuchshuber A, Kroiss S, Karle S, Berthold S, Huck K, Burton C, Rahman N, Koptides M, Deltas C, Otto E, Rüschendorf F, Feest T, Hildebrandt F. Fuchshuber A, et al. Among authors: deltas c. Genomics. 2001 Mar 15;72(3):278-84. doi: 10.1006/geno.2000.6486. Genomics. 2001. PMID: 11401443
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. Gale DP, et al. Among authors: deltas c. Lancet. 2010 Sep 4;376(9743):794-801. doi: 10.1016/S0140-6736(10)60670-8. Epub 2010 Aug 25. Lancet. 2010. PMID: 20800271 Free PMC article.
Analysis of published PKD1 gene sequence variants.
Gout AM; ADPKD Gene Variant Consortium; Ravine D, Harris PC, Rossetti S, Peters D, Breuning M, Henske EP, Koizumi A, Inoue S, Shimizu Y, Thongnoppakhun W, Yenchitsomanus PT, Deltas C, Sandford R, Torra R, Turco AE, Jeffery S, Fontes M, Somlo S, Furu LM, Smulders YM, Mercier B, Ferec C, Burtey S, Pei Y, Kalaydjieva L, Bogdanova N, McCluskey M, Geon LJ, Wouters CH, Reiterova J, Stekrová J, San Millan JL, Aguiari G, Del Senno L. Gout AM, et al. Among authors: deltas c. Nat Genet. 2007 Apr;39(4):427-8. doi: 10.1038/ng0407-427. Nat Genet. 2007. PMID: 17392796 Review. No abstract available.
Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease.
Magistroni R, He N, Wang K, Andrew R, Johnson A, Gabow P, Dicks E, Parfrey P, Torra R, San-Millan JL, Coto E, Van Dijk M, Breuning M, Peters D, Bogdanova N, Ligabue G, Albertazzi A, Hateboer N, Demetriou K, Pierides A, Deltas C, St George-Hyslop P, Ravine D, Pei Y. Magistroni R, et al. Among authors: deltas c. J Am Soc Nephrol. 2003 May;14(5):1164-74. doi: 10.1097/01.asn.0000061774.90975.25. J Am Soc Nephrol. 2003. PMID: 12707387 Free article.
Genetic variation of DKK3 may modify renal disease severity in ADPKD.
Liu M, Shi S, Senthilnathan S, Yu J, Wu E, Bergmann C, Zerres K, Bogdanova N, Coto E, Deltas C, Pierides A, Demetriou K, Devuyst O, Gitomer B, Laakso M, Lumiaho A, Lamnissou K, Magistroni R, Parfrey P, Breuning M, Peters DJ, Torra R, Winearls CG, Torres VE, Harris PC, Paterson AD, Pei Y. Liu M, et al. Among authors: deltas c. J Am Soc Nephrol. 2010 Sep;21(9):1510-20. doi: 10.1681/ASN.2010030237. Epub 2010 Jul 8. J Am Soc Nephrol. 2010. PMID: 20616171 Free PMC article.
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 CC, Rafail S, Mean R, Papadopoulos V, Tzioufas AG, Moutsopoulos HM, Kartalis G. Ritis K, et al. Among authors: deltas cc. Ann Rheum Dis. 2004 Apr;63(4):438-43. doi: 10.1136/ard.2003.009258. Ann Rheum Dis. 2004. PMID: 15020340 Free PMC article.
PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein.
Mochizuki T, Wu G, Hayashi T, Xenophontos SL, Veldhuisen B, Saris JJ, Reynolds DM, Cai Y, Gabow PA, Pierides A, Kimberling WJ, Breuning MH, Deltas CC, Peters DJ, Somlo S. Mochizuki T, et al. Among authors: deltas cc. Science. 1996 May 31;272(5266):1339-42. doi: 10.1126/science.272.5266.1339. Science. 1996. PMID: 8650545
133 results