Zobrazeno 1 - 10
of 65
pro vyhledávání: '"Pierides, Alkis M."'
Autor:
Athanasiou, Yiannis, Voskarides, Konstantinos, Chatzikyriakidou, Anthoula L., Ignatiou, Anastasia, Demosthenous, Panayiota, Elia, Avraam, Zavros, Michalis, Georgiou, Ioannis A., Pierides, Alkis M., Constantinou-Deltas, Constantinos D.
Publikováno v:
Genetic Testing and Molecular Biomarkers
Gent.Test.and Mol.Biomarkers
Gent.Test.and Mol.Biomarkers
Background and Aims: Cystinuria represents 3% of nephrolithiasis in humans. Two genes have been identified as the main genetic causes of cystinuria, SLC3A1 and SLC7A9, with an autosomal recessive mode of inheritance. In the present study, we studied
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b4043de9581f582c8491b7730853850
https://doi.org/10.1089/gtmb.2015.0144
https://doi.org/10.1089/gtmb.2015.0144
Autor:
Voskarides, Konstantinos, Arsali, Maria, Athanasiou, Yiannis, Elia, Avraam, Pierides, Alkis M., Constantinou-Deltas, Constantinos D.
Publikováno v:
Pediatric Nephrology
Pediatr.Nephrol.
Pediatr.Nephrol.
Background Familial hematuria (FH) is associated with at least two pathological entities: Thin basement membrane nephropathy (TBMN), caused by heterozygous COL4A3/ COL4A4 mutations, and C3 nephropathy caused by CFHR5 mutations. It is now known that T
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ffb68de4596aa9826a1120dff2a6c4f4
https://doi.org/10.1007/s00467-011-2084-6
https://doi.org/10.1007/s00467-011-2084-6
Publikováno v:
Pediatric Nephrology (Berlin, Germany)
Pediatric Nephrology
Pediatr.Nephrol.
Pediatric Nephrology
Pediatr.Nephrol.
Familial microscopic hematuria (MH) of glomer-ular origin represents a heterogeneous group of monogenic conditions involving several genes, some of which remain unknown. Recent advances have increased our understanding and our ability to use molecula
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7225b5a6cfd3454ab458b6af95d228cf
http://europepmc.org/articles/PMC3382641
http://europepmc.org/articles/PMC3382641
Autor:
Athanasiou, Yiannis, Voskarides, Konstantinos, Gale, D. P., Damianou, Loukas, Patsias, Charalambos, Zavros, Michalis, Maxwell, P. H., Cook, H. T., Demosthenous, Panayiota, Hadjisavvas, Andreas, Kyriacou, Kyriacos C., Zouvani, Ioanna, Pierides, Alkis M., Constantinou-Deltas, Constantinos D.
Publikováno v:
Clinical Journal of the American Society of Nephrology
Clin.J.Am.Soc.Nephrol.
Clin.J.Am.Soc.Nephrol.
Background and objectives Complement factor H and related proteins (CFHR) are key regulators of the alternative complement pathway, where loss of function mutations lead to a glomerulopathy with isolated mesangial C3 deposits without immunoglobulins.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6ef66ed74805daa8114127086a5fa51
https://doi.org/10.2215/cjn.09541010
https://doi.org/10.2215/cjn.09541010
Autor:
Voskarides, Konstantinos, Patsias, Charalambos, Pierides, Alkis M., Constantinou-Deltas, Constantinos D.
Publikováno v:
Genetic testing
Genet.Test.
Genet.Test.
Mutations in the COL4A3/COL4A4 genes of type IV collagen account for about 40% of cases of thin basement membrane nephropathy, a condition that is estimated to affect 1% or more of the general population. We recently described 10 Cypriot families wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e8d0fcf8c025a52f6fa8d641f704ab8
https://doi.org/10.1089/gte.2007.0110
https://doi.org/10.1089/gte.2007.0110
Publikováno v:
Pharmacological Research
Pharmacol.Res.
Pharmacol.Res.
Alport syndrome (AS) is a hereditary progressive glomerulonephritis with a high life-time risk for end-stage renal disease (ESRD). Most patients will reach ESRD before the age of 30 years, while a subset of them with milder mutations will do so at ol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::362bff02e6ee22962933c0166d7ce16c
https://pubmed.ncbi.nlm.nih.gov/26995302
https://pubmed.ncbi.nlm.nih.gov/26995302
Autor:
Constantinou-Deltas, Constantinos D., Savva, Isavella, Voskarides, Konstantinos, Papazachariou, Louiza, Pierides, Alkis M.
Publikováno v:
Nephron
Collagen IV nephropathies (COL4Ns) comprise benign familial microscopic hematuria, thin basement membrane nephropathy (TBMN), X-linked Alport syndrome (AS) and also autosomal recessive and dominant AS. Apart from the X-linked form of AS, which is cau
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e840a61196ab915cf3927f113ea00900
https://pubmed.ncbi.nlm.nih.gov/26201269
https://pubmed.ncbi.nlm.nih.gov/26201269
Autor:
Stefanou, Charalambos, Pieri, Myrtani, Savva, Isavella, Georgiou, Georgios C., Pierides, Alkis M., Voskarides, Konstantinos, Constantinou-Deltas, Constantinos D.
Publikováno v:
Nephron
Background/Aims: A subset of patients who present with proteinuria and are diagnosed with focal segmental glomerulosclerosis (FSGS) have inherited heterozygous COL4A3/A4 mutations and are also diagnosed with thin basement membrane nephropathy (TBMN-O
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35e9ef084c06ee89ec0d42f8a46a65ff
https://pubmed.ncbi.nlm.nih.gov/26138234
https://pubmed.ncbi.nlm.nih.gov/26138234
Publikováno v:
Blood Purification. 1983, Vol. 1 Issue 3, p145-153. 9p.
Autor:
Stavrou, Christoforos V., Constantinou-Deltas, Constantinos D., Christofides, Tasos C., Pierides, Alkis M.
Publikováno v:
Nephrology Dialysis Transplantation
Nephrol.Dial.Transplant.
Nephrol.Dial.Transplant.
Background. Autosomal dominant medullary cystic kidney disease (ADMCKD) is an inherited, distinct, chronic, tubulointerstitial, cystic-type nephropathy, often described together with juvenile nephronophthisis as a single disease complex (NPH-MCD). Ho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5ddee2297e43b4bed88a57c50290ea4
https://doi.org/10.1093/ndt/gfg196
https://doi.org/10.1093/ndt/gfg196