Deltas C - Search Results

1

Germline MBD4 deficiency causes a multi-tumor predisposition syndrome.

Palles C, West HD, Chew E, Galavotti S, Flensburg C, Grolleman JE, Jansen EAM, Curley H, Chegwidden L, Arbe-Barnes EH, Lander N, Truscott R, Pagan J, Bajel A, Sherwood K, Martin L, Thomas H, Georgiou D, Fostira F, Goldberg Y, Adams DJ, van der Biezen SAM, Christie M, Clendenning M, Thomas LE, Deltas C, Dimovski AJ, Dymerska D, Lubinski J, Mahmood K, van der Post RS, Sanders M, Weitz J, Taylor JC, Turnbull C, Vreede L, van Wezel T, Whalley C, Arnedo-Pac C, Caravagna G, Cross W, Chubb D, Frangou A, Gruber AJ, Kinnersley B, Noyvert B, Church D, Graham T, Houlston R, Lopez-Bigas N, Sottoriva A, Wedge D; Genomics England Research Consortium; CORGI Consortium; WGS500 Consortium; Jenkins MA, Kuiper RP, Roberts AW, Cheadle JP, Ligtenberg MJL, Hoogerbrugge N, Koelzer VH, Rivas AD, Winship IM, Ponte CR, Buchanan DD, Power DG, Green A, Tomlinson IPM, Sampson JR, Majewski IJ, de Voer RM. Palles C, et al. Among authors: deltas c. Am J Hum Genet. 2022 May 5;109(5):953-960. doi: 10.1016/j.ajhg.2022.03.018. Epub 2022 Apr 22. Am J Hum Genet. 2022. PMID: 35460607 Free PMC article.

2

New amino acid polymorphism, Ala/Val4058, in exon 45 of the polycystic kidney disease 1 gene: evolution of alleles.

Constantinides R, Xenophontos S, Neophytou P, Nomura S, Pierides A, Deltas CC. Constantinides R, et al. Among authors: deltas cc. Hum Genet. 1997 May;99(5):644-7. doi: 10.1007/s004390050421. Hum Genet. 1997. PMID: 9150733

3

Loss of heterozygosity in polycystic kidney disease with a missense mutation in the repeated region of PKD1.

Koptides M, Constantinides R, Kyriakides G, Hadjigavriel M, Patsalis PC, Pierides A, Deltas CC. Koptides M, et al. Among authors: deltas cc. Hum Genet. 1998 Dec;103(6):709-17. doi: 10.1007/s004390050896. Hum Genet. 1998. PMID: 9921908

4

Detection of a novel nonsense mutation and an intragenic polymorphism in the PKD1 gene of a Cypriot family with autosomal dominant polycystic kidney disease.

Neophytou P, Constantinides R, Lazarou A, Pierides A, Deltas CC. Neophytou P, et al. Among authors: deltas cc. Hum Genet. 1996 Oct;98(4):437-42. doi: 10.1007/s004390050235. Hum Genet. 1996. PMID: 8792818

5

A translation frameshift mutation induced by a cytosine insertion in the polycystic kidney disease 2 gene (PDK2).

Xenophontos S, Constantinides R, Hayashi T, Mochizuki T, Somlo S, Pierides A, Deltas CC. Xenophontos S, et al. Among authors: deltas cc. Hum Mol Genet. 1997 Jun;6(6):949-52. doi: 10.1093/hmg/6.6.949. Hum Mol Genet. 1997. PMID: 9175744

6

Autosomal dominant polycystic kidney disease: molecular genetics and molecular pathogenesis.

Koptides M, Deltas CC. Koptides M, et al. Among authors: deltas cc. Hum Genet. 2000 Aug;107(2):115-26. doi: 10.1007/s004390000347. Hum Genet. 2000. PMID: 11030408 Review.

7

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

Bouba I, Koptides M, Mean R, Costi CE, Demetriou K, Georgiou I, Pierides A, Siamopoulos K, Deltas CC. Bouba I, et al. Among authors: deltas cc. Eur J Hum Genet. 2001 Sep;9(9):677-84. doi: 10.1038/sj.ejhg.5200696. Eur J Hum Genet. 2001. PMID: 11571556

8

Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing.

Wolf MT, Mucha BE, Hennies HC, Attanasio M, Panther F, Zalewski I, Karle SM, Otto EA, Deltas CC, Fuchshuber A, Hildebrandt F. Wolf MT, et al. Among authors: deltas cc. Hum Genet. 2006 Jul;119(6):649-58. doi: 10.1007/s00439-006-0176-3. Epub 2006 Apr 26. Hum Genet. 2006. PMID: 16738948

9

X-linked Alport syndrome in Hellenic families: phenotypic heterogeneity and mutations near interruptions of the collagen domain in COL4A5.

Demosthenous P, Voskarides K, Stylianou K, Hadjigavriel M, Arsali M, Patsias C, Georgaki E, Zirogiannis P, Stavrou C, Daphnis E, Pierides A, Deltas C; Hellenic Nephrogenetics Research Consortium. Demosthenous P, et al. Among authors: deltas c. Clin Genet. 2012 Mar;81(3):240-8. doi: 10.1111/j.1399-0004.2011.01647.x. Epub 2011 Mar 13. Clin Genet. 2012. PMID: 21332469

10

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. 2021 Aug;29(8):1186-1197. doi: 10.1038/s41431-021-00858-1. Epub 2021 Apr 15. Eur J Hum Genet. 2021. PMID: 33854215 Free PMC article.

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