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Items: 31

1.

Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease.

Živná M, Kidd K, Přistoupilová A, Barešová V, DeFelice M, Blumenstiel B, Harden M, Conlon P, Lavin P, Connaughton DM, Hartmannová H, Hodaňová K, Stránecký V, Vrbacká A, Vyleťal P, Živný J, Votruba M, Sovová J, Hůlková H, Robins V, Perry R, Wenzel A, Beck BB, Seeman T, Viklický O, Rajnochová-Bloudíčková S, Papagregoriou G, Deltas CC, Alper SL, Greka A, Bleyer AJ, Kmoch S.

J Am Soc Nephrol. 2018 Sep;29(9):2418-2431. doi: 10.1681/ASN.2018020180. Epub 2018 Jul 2.

2.

Renal graft outcome in autosomal dominant medullary cystic kidney disease type 1.

Soloukides AP, Moutzouris DA, Papagregoriou GN, Stavrou CV, Deltas CC, Tzanatos HA.

J Nephrol. 2013 Jul-Aug;26(4):793-8. doi: 10.5301/jn.5000249. Epub 2013 Feb 25.

PMID:
23475468
3.

Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing.

Wolf MT, Mucha BE, Hennies HC, Attanasio M, Panther F, Zalewski I, Karle SM, Otto EA, Deltas CC, Fuchshuber A, Hildebrandt F.

Hum Genet. 2006 Jul;119(6):649-58. Epub 2006 Apr 26.

PMID:
16738948
5.

Evidence for association of endothelial cell nitric oxide synthase gene polymorphism with earlier progression to end-stage renal disease in a cohort of Hellens from Greece and Cyprus.

Lamnissou K, Zirogiannis P, Trygonis S, Demetriou K, Pierides A, Koptides M, Deltas CC.

Genet Test. 2004 Fall;8(3):319-24.

PMID:
15727257
6.

Description of the first two seemingly unrelated Greek Cypriot families with a common C618R RET proto-oncogene mutation.

Neocleous V, Passalaris T, Spanou E, Kitsios P, Skordis N, Deltas CC.

Genet Test. 2004 Summer;8(2):163-8.

PMID:
15345114
7.

Modification of the enzyme mismatch cleavage method using T7 endonuclease I and silver staining.

Mean RJ, Pierides A, Deltas CC, Koptides M.

Biotechniques. 2004 May;36(5):758-60. No abstract available.

8.

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.

Ann Rheum Dis. 2004 Apr;63(4):438-43.

9.

Outcome of kidney transplantation in autosomal dominant medullary cystic kidney disease type 1.

Stavrou C, Deltas CC, Christophides TC, Pierides A.

Nephrol Dial Transplant. 2003 Oct;18(10):2165-9.

PMID:
13679497
10.

Discovery of old diseases: the molecular approach.

Deltas CC.

Eur J Hum Genet. 2003 Jan;11(1):3-4. No abstract available.

11.

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..

12.

Familial Mediterranean fever (FMF) mutations occur frequently in the Greek-Cypriot population of Cyprus.

Deltas CC, Mean R, Rossou E, Costi C, Koupepidou P, Hadjiyanni I, Hadjiroussos V, Petrou P, Pierides A, Lamnisou K, Koptides M.

Genet Test. 2002 Spring;6(1):15-21.

PMID:
12180071
13.

A family with the branchio-oto-renal syndrome: clinical and genetic correlations.

Pierides AM, Athanasiou Y, Demetriou K, Koptides M, Deltas CC.

Nephrol Dial Transplant. 2002 Jun;17(6):1014-8.

PMID:
12032190
14.

Novel NPR1 polymorphic variants and its exclusion as a candidate gene for medullary cystic kidney disease (ADMCKD) type 1.

Koptides M, Mean R, Stavrou C, Pierides A, Demetriou K, Nakayama T, Hildebrandt F, Fuchshuber A, Deltas CC.

Mol Cell Probes. 2001 Dec;15(6):357-61.

PMID:
11851379
15.

Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families.

Bouba I, Koptides M, Mean R, Costi CE, Demetriou K, Georgiou I, Pierides A, Siamopoulos K, Deltas CC.

Eur J Hum Genet. 2001 Sep;9(9):677-84.

16.

Mutations of the human polycystic kidney disease 2 (PKD2) gene.

Deltas CC.

Hum Mutat. 2001;18(1):13-24. Review.

PMID:
11438989
17.

Autosomal dominant polycystic kidney disease: molecular genetics and molecular pathogenesis.

Koptides M, Deltas CC.

Hum Genet. 2000 Aug;107(2):115-26. Review.

PMID:
11030408
18.

Screening of the PKD1 duplicated region reveals multiple single nucleotide polymorphisms and a de novo mutation in Hellenic polycystic kidney disease families.

Koptides M, Mean R, Demetriou K, Constantinides R, Pierides A, Harris PC, Deltas CC.

Hum Mutat. 2000 Aug;16(2):176.

PMID:
10923040
19.

Genetic evidence for a trans-heterozygous model for cystogenesis in autosomal dominant polycystic kidney disease.

Koptides M, Mean R, Demetriou K, Pierides A, Deltas CC.

Hum Mol Genet. 2000 Feb 12;9(3):447-52.

PMID:
10655555
20.

Autosomal dominant polycystic kidney disease-type 2. Ultrasound, genetic and clinical correlations.

Demetriou K, Tziakouri C, Anninou K, Eleftheriou A, Koptides M, Nicolaou A, Deltas CC, Pierides A.

Nephrol Dial Transplant. 2000 Feb;15(2):205-11.

PMID:
10648666
21.

Loss of heterozygosity in polycystic kidney disease with a missense mutation in the repeated region of PKD1.

Koptides M, Constantinides R, Kyriakides G, Hadjigavriel M, Patsalis PC, Pierides A, Deltas CC.

Hum Genet. 1998 Dec;103(6):709-17.

PMID:
9921908
22.

Autosomal dominant medullary cystic kidney disease: evidence of gene locus heterogeneity.

Fuchshuber A, Deltas CC, Berthold S, Stavrou C, Vollmer M, Burton C, Feest T, Krieter D, Gal A, Brandis M, Pierides A, Hildebrandt F.

Nephrol Dial Transplant. 1998 Aug;13(8):1955-7.

PMID:
9719147
23.

Medullary cystic kidney disease with hyperuricemia and gout in a large Cypriot family: no allelism with nephronophthisis type 1.

Stavrou C, Pierides A, Zouvani I, Kyriacou K, Antignac C, Neophytou P, Christodoulou K, Deltas CC.

Am J Med Genet. 1998 May 1;77(2):149-54.

PMID:
9605289
24.

A translation frameshift mutation induced by a cytosine insertion in the polycystic kidney disease 2 gene (PDK2).

Xenophontos S, Constantinides R, Hayashi T, Mochizuki T, Somlo S, Pierides A, Deltas CC.

Hum Mol Genet. 1997 Jun;6(6):949-52.

PMID:
9175744
25.

New amino acid polymorphism, Ala/Val4058, in exon 45 of the polycystic kidney disease 1 gene: evolution of alleles.

Constantinides R, Xenophontos S, Neophytou P, Nomura S, Pierides A, Deltas CC.

Hum Genet. 1997 May;99(5):644-7.

PMID:
9150733
26.

Clinical aspects of cystinuria.

Pierides AM, Deltas CC.

Contrib Nephrol. 1997;122:167-72. No abstract available.

PMID:
9399060
27.

Cytogenetic and fragile X molecular testing of individuals with mental retardation of unknown etiology.

Patsalis PC, Sismani C, Hadjimarcou MI, Rose N, Stylianidou G, Koukoulli R, Anastasiadou V, Deltas CC, Middleton L.

Genet Couns. 1997;8(1):1-6.

PMID:
9101271
28.
29.

Description of a symptomless cystic fibrosis L346P/M348K compound heterozygous Cypriot individual.

Deltas CC, Boteva K, Georgiou A, Papageorgiou E, Georgiou C.

Mol Cell Probes. 1996 Aug;10(4):315-8.

PMID:
8865181
30.
31.

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.

Science. 1996 May 31;272(5266):1339-42.

PMID:
8650545

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