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Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria.
Savige J, Storey H, Watson E, Hertz JM, Deltas C, Renieri A, Mari F, Hilbert P, Plevova P, Byers P, Cerkauskaite A, Gregory M, Cerkauskiene R, Ljubanovic DG, Becherucci F, Errichiello C, Massella L, Aiello V, Lennon R, Hopkinson L, Koziell A, Lungu A, Rothe HM, Hoefele J, Zacchia M, Martic TN, Gupta A, van Eerde A, Gear S, Landini S, Palazzo V, Al-Rabadi L, Claes K, Corveleyn A, Van Hoof E, van Geel M, Williams M, Ashton E, Belge H, Ars E, Bierzynska A, Gangemi C, Lipska-Ziętkiewicz BS. Savige J, et al. Among authors: deltas c. Eur J Hum Genet. 2024 Jan;32(1):132. doi: 10.1038/s41431-023-01288-x. Eur J Hum Genet. 2024. PMID: 36721056 Free PMC article. No abstract available.
Refinement of the gene locus for autosomal dominant medullary cystic kidney disease type 1 (MCKD1) and construction of a physical and partial transcriptional map of the region.
Fuchshuber A, Kroiss S, Karle S, Berthold S, Huck K, Burton C, Rahman N, Koptides M, Deltas C, Otto E, Rüschendorf F, Feest T, Hildebrandt F. Fuchshuber A, et al. Among authors: deltas c. Genomics. 2001 Mar 15;72(3):278-84. doi: 10.1006/geno.2000.6486. Genomics. 2001. PMID: 11401443
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. Ritis K, et al. Among authors: deltas cc. Ann Rheum Dis. 2004 Apr;63(4):438-43. doi: 10.1136/ard.2003.009258. Ann Rheum Dis. 2004. PMID: 15020340 Free PMC article.
Familial Mediterranean fever associated pyrin mutations in Greece.
Konstantopoulos K, Kanta A, Deltas C, Atamian V, Mavrogianni D, Tzioufas AG, Kollainis I, Ritis K, Moutsopoulos HM. Konstantopoulos K, et al. Among authors: deltas c. Ann Rheum Dis. 2003 May;62(5):479-81. doi: 10.1136/ard.62.5.479. Ann Rheum Dis. 2003. PMID: 12695165 Free PMC article.
133 results