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Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics.
Khan M, Cornelis SS, Pozo-Valero MD, Whelan L, Runhart EH, Mishra K, Bults F, AlSwaiti Y, AlTalbishi A, De Baere E, Banfi S, Banin E, Bauwens M, Ben-Yosef T, Boon CJF, van den Born LI, Defoort S, Devos A, Dockery A, Dudakova L, Fakin A, Farrar GJ, Sallum JMF, Fujinami K, Gilissen C, Glavač D, Gorin MB, Greenberg J, Hayashi T, Hettinga YM, Hoischen A, Hoyng CB, Hufendiek K, Jägle H, Kamakari S, Karali M, Kellner U, Klaver CCW, Kousal B, Lamey TM, MacDonald IM, Matynia A, McLaren TL, Mena MD, Meunier I, Miller R, Newman H, Ntozini B, Oldak M, Pieterse M, Podhajcer OL, Puech B, Ramesar R, Rüther K, Salameh M, Salles MV, Sharon D, Simonelli F, Spital G, Steehouwer M, Szaflik JP, Thompson JA, Thuillier C, Tracewska AM, van Zweeden M, Vincent AL, Zanlonghi X, Liskova P, Stöhr H, Roach JN, Ayuso C, Roberts L, Weber BHF, Dhaenens CM, Cremers FPM. Khan M, et al. Among authors: kamakari s. Genet Med. 2020 Jul;22(7):1235-1246. doi: 10.1038/s41436-020-0787-4. Epub 2020 Apr 20. Genet Med. 2020. PMID: 32307445 Free article.
Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease.
Runhart EH, Khan M, Cornelis SS, Roosing S, Del Pozo-Valero M, Lamey TM, Liskova P, Roberts L, Stöhr H, Klaver CCW, Hoyng CB, Cremers FPM, Dhaenens CM; Disease Consortium Study Group. Runhart EH, et al. JAMA Ophthalmol. 2020 Oct 1;138(10):1035-1042. doi: 10.1001/jamaophthalmol.2020.2990. JAMA Ophthalmol. 2020. PMID: 32815999 Free PMC article.
Corrigendum to "Mutation Spectrum of the ABCA4 Gene in a Greek Cohort with Stargardt Disease: Identification of Novel Mutations and Evidence of Three Prevalent Mutated Alleles".
Kamakari S, Kokkinou V, Koutsodontis G, Stamatiou P, Giatzakis C, Anastasakis A, Aslanides IM, Koukoula S, Panagiotoglou T, Datseris I, Tsilimbaris MK. Kamakari S, et al. J Ophthalmol. 2018 Dec 16;2018:3039672. doi: 10.1155/2018/3039672. eCollection 2018. J Ophthalmol. 2018. PMID: 30647958 Free PMC article.
Novel mutations of the HRAS gene and absence of hotspot mutations of the BRAF genes in oral squamous cell carcinoma in a Greek population.
Koumaki D, Kostakis G, Koumaki V, Papadogeorgakis N, Makris M, Katoulis A, Kamakari S, Koutsodontis G, Perisanidis C, Lambadiari V, Chrysomali E, Stavrianeas N, Alexandridis C, Rigopoulos D. Koumaki D, et al. Among authors: kamakari s. Oncol Rep. 2012 May;27(5):1555-60. doi: 10.3892/or.2012.1653. Epub 2012 Jan 26. Oncol Rep. 2012. PMID: 22294102
Greek BRCA1 and BRCA2 mutation spectrum: two BRCA1 mutations account for half the carriers found among high-risk breast/ovarian cancer patients.
Konstantopoulou I, Rampias T, Ladopoulou A, Koutsodontis G, Armaou S, Anagnostopoulos T, Nikolopoulos G, Kamakari S, Nounesis G, Stylianakis A, Karanikiotis C, Razis E, Gogas H, Keramopoulos A, Gaki V, Markopoulos C, Skarlos D, Pandis N, Bei T, Arzimanoglou I, Fountzilas G, Yannoukakos D. Konstantopoulou I, et al. Among authors: kamakari s. Breast Cancer Res Treat. 2008 Feb;107(3):431-41. doi: 10.1007/s10549-007-9571-2. Epub 2007 Apr 24. Breast Cancer Res Treat. 2008. PMID: 17453335
X chromosome linkage studies in familial Rett syndrome.
Curtis AR, Headland S, Lindsay S, Thomas NS, Boye E, Kamakari S, Roustan P, Anvret M, Wahlstrom J, McCarthy G, et al. Curtis AR, et al. Among authors: kamakari s. Hum Genet. 1993 Jan;90(5):551-5. doi: 10.1007/BF00217457. Hum Genet. 1993. PMID: 8094068
35 results