Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Michael Koptides"'
Publikováno v:
BioTechniques, Vol 21, Iss 1, Pp 48-52 (1996)
Externí odkaz:
https://doaj.org/article/513bd31f25354159ad3b74ddce115eab
Publikováno v:
BioTechniques, Vol 36, Iss 5, Pp 758-760 (2004)
Externí odkaz:
https://doaj.org/article/037921cecec04f7f970e15e0b672b449
Autor:
Sotiris Trygonis, Panos Zirogiannis, Klea Lamnissou, Kyproula Demetriou, Michael Koptides, Constantinos Deltas, Alkis Pierides
Publikováno v:
Scopus-Elsevier
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
Autor:
Constantinos Deltas, Michael Koptides
Publikováno v:
Scopus-Elsevier
Mutations in three different genes, PKD1, PKD2 and PKD3, can cause a very similar clinical picture of the autosomal dominant form of polycystic kidney disease (ADPKD). Apparently, mutations in the PKD3 gene, which is still unmapped, are very rare, wh
Autor:
Christos Hadjimichael, Constantinos Deltas, Alkis Pierides, Michael Koptides, Panayiota Koupepidou
Publikováno v:
Scopus-Elsevier
Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations in one of three genes: PKD1 on chromosome 16 accounts for approximately 85% of cases whereas PKD2 on chromosome 4 accounts for approximately 15%. Mutations in the PKD3 gene a
Autor:
Anne M. Karinch, Gina Deiter, Michael Koptides, Joanna Floros, Roger G. Spragg, Heber C. Nielsen, Peter K. Rogan, Kristi L. Watterberg, Susan L. DiAngelo
Publikováno v:
Scopus-Elsevier
Two surfactant protein A (SP-A) genes and several alleles for each SP-A locus have been previously described. In this report we investigate the potential usefulness of the SP-A loci as markers for genetic studies. We establish conditions that allow t
Publikováno v:
BioTechniques. 36:758-760
The Silver Standard? Enzyme mismatch cleavage is a sensitive and accurate method for mutation detection. The approach entails bacteriophage resolvase cleavage of heteroduplex DNA formed by the anne...
Autor:
Alkis Pierides, Ioanna Zouvani, Christos Tombazos, Constantinos Deltas, Michael Koptides, Evlalia Psara, Kyriacos Kyriacou, Friedhelm Hildebrandt, Tasos C. Christofides, Christoforos Stavrou, Charalambos Patsias
Publikováno v:
Kidney international. 62(4)
Autosomal-dominant medullary cystic kidney disease type 1: Clinical and molecular findings in six large Cypriot families . Background Autosomal-dominant medullary cystic kidney disease (ADMCKD), a hereditary chronic interstitial nephropathy, recently
Autor:
Alkis Pierides, Michael Koptides, Constantinos Deltas, Kyproula Demetriou, Yiannis Athanasiou
Publikováno v:
Scopus-Elsevier
Background. The branchio-oto-renal (BOR) syndrome is an autosomal dominant disease characterized by hearing loss of early onset, preauricular pits, branchial clefts, and early progressive chronic renal failure in up to 40% of family affected members.
Autor:
Constantinos Deltas, Richard Mean, Peter C. Harris, Rolandos Constantinides, Michael Koptides, Kyproula Demetriou, Alkis Pierides
Publikováno v:
Scopus-Elsevier
Mutations in the PKD1 gene account for approximately 85% of cases with autosomal dominant polycystic kidney disease (ADPKD1; MIM# 601313), which is considered one of the most frequent monogenic disorders, with a frequency of approximately 1:1000. The