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

Autor: Koptides, Michael, Mean, Richard, Stavrou, Christoforos, Pierides, Alkis, Demetriou, Kyproula, Nakayama, Tomohiro, Hildebrandt, Friedhelm, Fuchshuber, Arno, Deltas, C.Constantinou

Publikováno v: In Molecular and Cellular Probes December 2001 15(6):357-361

Familial Homozygous Hypercholesterolemia: Effective Long-Term Treatment with Cascade Double Filtration Plasmapheresis.

Autor: Demetriou, Kyproula¹, H'Maltezou, Eleni¹, Pierides, Alkis M.¹

Publikováno v: Blood Purification. 2001, Vol. 19 Issue 3, p308-313. 6p.

Genetic variation of DKK3 may modify renal disease severity in ADPKD

Autor: Liu, M., Shi, S., Senthilnathan, S., Yu, J., Wu, E., Bergmann, C., Zerres, K., Bogdanova, N., Coto, E., Constantinou-Deltas, Constantinos D., Pierides, Alkis M., Demetriou, Kyproula, Devuyst, O., Gitomer, B., Laakso, M., Lumiaho, A., Lamnissou, Klea, Magistroni, R., Parfrey, P., Breuning, M., Peters, D. J. M., Torra, R., Winearls, C. G., Torres, V. E., Harris, Peter C., Paterson, A. D., Pei, Y.

Publikováno v: JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Journal of the American Society of Nephrology, 21(9), 1510-20
Università degli studi di Modena e Reggio Emilia-IRIS
Journal of the American Society of Nephrology
J.Am.Soc.Nephrol.
Journal of the American Society of Nephrology, Vol. 21, no.9, p. 1510-1520 (2010)

Significant variation in the course of autosomal dominant polycystic kidney disease (ADPKD) within families suggests the presence of effect modifiers. Recent studies of the variation within families harboring PKD1 mutations indicate that genetic back

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c319706fa64dc401a77cd77ea5caeb7
https://hdl.handle.net/1887/119239

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

Autor: Lamnissou, Klea, Zirogiannis, P., Trygonis, S., Demetriou, Kyproula, Pierides, Alkis M., Koptides, Michael, Constantinou-Deltas, Constantinos D.

Publikováno v: Genetic testing
Genet.Test.

Nitric oxide (NO) is thought to be an important factor in the deterioration of renal function. A variable-number tandem 27-bp repeat in intron 4 of the endothelial cell nitric oxide synthase (NOS3) gene has been found to be associated with the plasma

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______4485::19ee23aec16af89cb128e0f6e00c4296
http://gnosis.library.ucy.ac.cy/handle/7/53221

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

Autor: Bouba, I., Koptides, Michael, Mean, R., Costi, Constantina Eleni, Demetriou, Kyproula, Georgiou, Ioannis A., Pierides, Alkis M., Siamopoulos, K., Constantinou-Deltas, Constantinos D.

Publikováno v: European Journal of Human Genetics
Eur.J.Hum.Genet.

The autosomal dominant form of polycystic kidney disease is a very frequent genetically heterogeneous inherited condition affecting approximately 1: 1000 individuals of the Caucasian population. The main symptom is the formation of fluid-filled cysts

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f8bdc22a0d4b58ec39152bf626c8f39
http://gnosis.library.ucy.ac.cy/handle/7/52957