Similar articles for PMID: 31884623

Year	Number of Results
2001	2
2002	2
2003	3
2004	7
2005	3
2007	3
2008	2
2009	1
2011	1
2012	2
2013	5
2015	5
2016	5
2017	9
2018	8
2019	7
2020	8
2021	10
2022	6
2023	1
2024	0

1

Analysis of the ABCA4 c.[2588G>C;5603A>T] Allele in the Australian Population.

Thompson JA, Chiang JP, De Roach JN, McLaren TL, Chen FK, Hoffmann L, Campbell I, Lamey TM. Thompson JA, et al. Adv Exp Med Biol. 2019;1185:269-273. doi: 10.1007/978-3-030-27378-1_44. Adv Exp Med Biol. 2019. PMID: 31884623

2

The impact of the c.5603A>T hypomorphic variant on founder mutation screening of ABCA4 for Stargardt disease in South Africa.

Midgley N, Roberts L, Rebello G, Ramesar R. Midgley N, et al. Mol Vis. 2020 Aug 23;26:613-622. eCollection 2020. Mol Vis. 2020. PMID: 32913387 Free PMC article.

3

Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration.

Zernant J, Lee W, Collison FT, Fishman GA, Sergeev YV, Schuerch K, Sparrow JR, Tsang SH, Allikmets R. Zernant J, et al. J Med Genet. 2017 Jun;54(6):404-412. doi: 10.1136/jmedgenet-2017-104540. Epub 2017 Apr 26. J Med Genet. 2017. PMID: 28446513 Free PMC article.

4

ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants.

Bauwens M, Garanto A, Sangermano R, Naessens S, Weisschuh N, De Zaeytijd J, Khan M, Sadler F, Balikova I, Van Cauwenbergh C, Rosseel T, Bauwens J, De Leeneer K, De Jaegere S, Van Laethem T, De Vries M, Carss K, Arno G, Fakin A, Webster AR, de Ravel de l'Argentière TJL, Sznajer Y, Vuylsteke M, Kohl S, Wissinger B, Cherry T, Collin RWJ, Cremers FPM, Leroy BP, De Baere E. Bauwens M, et al. Genet Med. 2019 Aug;21(8):1761-1771. doi: 10.1038/s41436-018-0420-y. Epub 2019 Jan 23. Genet Med. 2019. PMID: 30670881 Free PMC article.

5

Characterising splicing defects of ABCA4 variants within exons 13-50 in patient-derived fibroblasts.

Huang D, Thompson JA, Chen SC, Adams A, Pitout I, Lima A, Zhang D, Jeffery RCH, Attia MS, McLaren TL, Lamey TM, De Roach JN, McLenachan S, Aung-Htut MT, Fletcher S, Wilton SD, Chen FK. Huang D, et al. Exp Eye Res. 2022 Dec;225:109276. doi: 10.1016/j.exer.2022.109276. Epub 2022 Oct 6. Exp Eye Res. 2022. PMID: 36209838 Free article.

6

In Silico Functional Meta-Analysis of 5,962 ABCA4 Variants in 3,928 Retinal Dystrophy Cases.

Cornelis SS, Bax NM, Zernant J, Allikmets R, Fritsche LG, den Dunnen JT, Ajmal M, Hoyng CB, Cremers FP. Cornelis SS, et al. Hum Mutat. 2017 Apr;38(4):400-408. doi: 10.1002/humu.23165. Epub 2017 Feb 3. Hum Mutat. 2017. PMID: 28044389

7

Late-Onset Stargardt Disease Due to Mild, Deep-Intronic ABCA4 Alleles.

Runhart EH, Valkenburg D, Cornelis SS, Khan M, Sangermano R, Albert S, Bax NM, Astuti GDN, Gilissen C, Pott JR, Verheij JBGM, Blokland EAW, Cremers FPM, van den Born LI, Hoyng CB. Runhart EH, et al. Invest Ophthalmol Vis Sci. 2019 Oct 1;60(13):4249-4256. doi: 10.1167/iovs.19-27524. Invest Ophthalmol Vis Sci. 2019. PMID: 31618761

8

Non-syndromic inherited retinal diseases in Poland: Genes, mutations, and phenotypes.

Tracewska AM, Kocyła-Karczmarewicz B, Rafalska A, Murawska J, Jakubaszko-Jabłónska J, Rydzanicz M, Stawiński P, Ciara E, Lipska-Ziętkiewicz BS, Khan MI, Cremers FPM, Płoski R, Chrzanowska KH. Tracewska AM, et al. Mol Vis. 2021 Jul 16;27:457-465. eCollection 2021. Mol Vis. 2021. PMID: 34321860 Free PMC article.

9

The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants.

Runhart EH, Sangermano R, Cornelis SS, Verheij JBGM, Plomp AS, Boon CJF, Lugtenberg D, Roosing S, Bax NM, Blokland EAW, Jacobs-Camps MHM, van der Velde-Visser SD, Pott JR, Rohrschneider K, Thiadens AAHJ, Klaver CCW, van den Born LI, Hoyng CB, Cremers FPM. Runhart EH, et al. Invest Ophthalmol Vis Sci. 2018 Jul 2;59(8):3220-3231. doi: 10.1167/iovs.18-23881. Invest Ophthalmol Vis Sci. 2018. PMID: 29971439

10

Next-generation sequencing of ABCA4: High frequency of complex alleles and novel mutations in patients with retinal dystrophies from Central Europe.

Ścieżyńska A, Oziębło D, Ambroziak AM, Korwin M, Szulborski K, Krawczyński M, Stawiński P, Szaflik J, Szaflik JP, Płoski R, Ołdak M. Ścieżyńska A, et al. Exp Eye Res. 2016 Apr;145:93-99. doi: 10.1016/j.exer.2015.11.011. Epub 2015 Nov 22. Exp Eye Res. 2016. PMID: 26593885

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