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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1965 1
1978 1
1982 1
1986 1
1988 3
1989 1
1992 1
1993 1
1994 5
1995 4
1996 3
1997 2
1998 3
1999 2
2000 2
2001 7
2002 4
2003 3
2004 9
2005 13
2006 1
2007 5
2008 2
2009 3
2010 8
2011 10
2012 5
2013 10
2014 8
2015 5
2016 9
2017 7
2018 11
2019 19
2020 26
2021 25
2022 12
2023 14
2024 14

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236 results

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Page 1
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.
Suga A, Yoshitake K, Minematsu N, Tsunoda K, Fujinami K, Miyake Y, Kuniyoshi K, Hayashi T, Mizobuchi K, Ueno S, Terasaki H, Kominami T, Nao-I N, Mawatari G, Mizota A, Shinoda K, Kondo M, Kato K, Sekiryu T, Nakamura M, Kusuhara S, Yamamoto H, Yamamoto S, Mochizuki K, Kondo H, Matsushita I, Kameya S, Fukuchi T, Hatase T, Horiguchi M, Shimada Y, Tanikawa A, Yamamoto S, Miura G, Ito N, Murakami A, Fujimaki T, Hotta Y, Tanaka K, Iwata T. Suga A, et al. Among authors: fujinami k. Hum Mutat. 2022 Dec;43(12):2251-2264. doi: 10.1002/humu.24492. Epub 2022 Nov 7. Hum Mutat. 2022. PMID: 36284460
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: fujinami k. 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.
Stargardt macular dystrophy and therapeutic approaches.
Fujinami K, Waheed N, Laich Y, Yang P, Fujinami-Yokokawa Y, Higgins JJ, Lu JT, Curtiss D, Clary C, Michaelides M. Fujinami K, et al. Br J Ophthalmol. 2024 Mar 20;108(4):495-505. doi: 10.1136/bjo-2022-323071. Br J Ophthalmol. 2024. PMID: 37940365 Free PMC article. Review.
Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8.
Fujinami K, Strauss RW, Chiang JP, Audo IS, Bernstein PS, Birch DG, Bomotti SM, Cideciyan AV, Ervin AM, Marino MJ, Sahel JA, Mohand-Said S, Sunness JS, Traboulsi EI, West S, Wojciechowski R, Zrenner E, Michaelides M, Scholl HPN; ProgStar Study Group; ProgStar Study Group. Fujinami K, et al. Br J Ophthalmol. 2019 Mar;103(3):390-397. doi: 10.1136/bjophthalmol-2018-312064. Epub 2018 Jun 20. Br J Ophthalmol. 2019. PMID: 29925512 Free PMC article.
CRB1-Associated Retinal Dystrophies: Genetics, Clinical Characteristics, and Natural History.
Daich Varela M, Georgiou M, Alswaiti Y, Kabbani J, Fujinami K, Fujinami-Yokokawa Y, Khoda S, Mahroo OA, Robson AG, Webster AR, AlTalbishi A, Michaelides M. Daich Varela M, et al. Among authors: fujinami k. Am J Ophthalmol. 2023 Feb;246:107-121. doi: 10.1016/j.ajo.2022.09.002. Epub 2022 Sep 12. Am J Ophthalmol. 2023. PMID: 36099972 Free PMC article.
Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndromes.
Georgiou M, Robson AG, Fujinami K, de Guimarães TAC, Fujinami-Yokokawa Y, Daich Varela M, Pontikos N, Kalitzeos A, Mahroo OA, Webster AR, Michaelides M. Georgiou M, et al. Among authors: fujinami k. Prog Retin Eye Res. 2024 Jan 24;100:101244. doi: 10.1016/j.preteyeres.2024.101244. Online ahead of print. Prog Retin Eye Res. 2024. PMID: 38278208 Review.
Japanese Cedar Pollen Allergens in Japan.
Ohashi-Doi K, Utsumi D, Mitobe Y, Fujinami K. Ohashi-Doi K, et al. Among authors: fujinami k. Curr Protein Pept Sci. 2022;23(12):837-850. doi: 10.2174/1389203723666220930155719. Curr Protein Pept Sci. 2022. PMID: 36200245
KCNV2-associated retinopathy: genotype-phenotype correlations - KCNV2 study group report 3.
de Guimaraes TAC, Georgiou M, Robson AG, Fujinami K, Vincent A, Nasser F, Khateb S, Mahroo OA, Pontikos N, Vargas ME, Thiadens AAHJ, Carvalho ER, Nguyen XT, Arno G, Fujinami-Yokokawa Y, Liu X, Tsunoda K, Hayashi T, Jiménez-Rolando B, Martin-Merida MI, Avila-Fernandez A, Salas EC, Garcia-Sandoval B, Ayuso C, Sharon D, Kohl S, Huckfeldt RM, Banin E, Pennesi ME, Khan AO, Wissinger B, Webster AR, Heon E, Boon CJF, Zrenner E, Michaelides M. de Guimaraes TAC, et al. Among authors: fujinami k. Br J Ophthalmol. 2023 Oct 18:bjo-2023-323640. doi: 10.1136/bjo-2023-323640. Online ahead of print. Br J Ophthalmol. 2023. PMID: 37852740 Free article.
236 results