Výsledky vyhledávání - "Deltas, C. C."

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

Autor: Patsalis, P. C., Sismani, C., Hadjimarcou, M. I., Rose, N., Stylianidou, G., Koukoulli, R., Anastasiadou, V., Deltas, C. C., Lefkos Middleton

Publikováno v: Europe PubMed Central
Scopus-Elsevier
Imperial College London

The aim of this program was to investigate the patients with Mental Retardation Of Unknown Etiology (MROUE), on the island of Cyprus. The MROUE patients were examined cytogenetically for gross chromosomal abnormalities, and by molecular methods for t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::33da37303668189b66a689228060713c
https://pubmed.ncbi.nlm.nih.gov/9101271

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Akademický článek

Molecular investigation and long-term clinical progress in Greek Cypriot families with recessive distal renal tubular acidosis and sensorineural deafness due to mutations in the ATP6V1B1 gene.

Autor: Feldman, M., Prikis, M., Athanasiou, Y., Elia, A., Pierides, A., Deltas, C. C.

Publikováno v: Clinical Genetics; Feb2006, Vol. 69 Issue 2, p135-144, 10p, 1 Black and White Photograph, 4 Diagrams, 2 Charts

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Akademický článek

Non-isotopic RNase cleavage assay for mutation detection in MEFV, the gene responsible for familial Mediterranean fever, in a cohort of Greek patients.

Autor: Ritis, K., Giaglis, S., Spathari, N., Micheli, A., Zonios, D., Tzoanopoulos, D., Deltas, C. C., Rafail, S., Mean, R., Papadopoulos, V., Tzioufas, A. G., Moutsopoulos, H. M., Kartalis, G.

Publikováno v: Annals of the Rheumatic Diseases; Apr2004, p438-443, 6p

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Periodical

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

Autor: Demetriou, K, Tziakouri, C, Anninou, K, Eleftheriou, A, Koptides, M, Nicolaou, A, Deltas, C C, Pierides, A

Publikováno v: Nephrology Dialysis Transplantation; February 2000, Vol. 15 Issue: 2 p205-211, 7p

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Akademický článek

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

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

Publikováno v: Pediatric Nephrology. 1999, Vol. 13 Issue 6, p492-492. 1/5p.

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Periodical

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

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

Publikováno v: Nephrology Dialysis Transplantation; August 1998, Vol. 13 Issue: 8 p1955-1957, 3p

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Akademický článek

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

Autor: Koptides M; Department of Molecular Genetics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus., Mean R, Stavrou C, Pierides A, Demetriou K, Nakayama T, Hildebrandt F, Fuchshuber A, Deltas CC

Publikováno v: Molecular and cellular probes [Mol Cell Probes] 2001 Dec; Vol. 15 (6), pp. 357-61.

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Akademický článek

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

Autor: Bouba I; The Cyprus Institute of Neurology and Genetics, Department of Molecular Genetics, Nicosia, Cyprus., Koptides M, Mean R, Costi CE, Demetriou K, Georgiou I, Pierides A, Siamopoulos K, Deltas CC

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2001 Sep; Vol. 9 (9), pp. 677-84.

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