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The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision.
Chrystal PW, Lambacher NJ, Doucette LP, Bellingham J, Schiff ER, Noel NCL, Li C, Tsiropoulou S, Casey GA, Zhai Y, Nadolski NJ, Majumder MH, Tagoe J, D'Esposito F, Cordeiro MF, Downes S, Clayton-Smith J, Ellingford J; Genomics England Research Consortium; Mahroo OA, Hocking JC, Cheetham ME, Webster AR, Jansen G, Blacque OE, Allison WT, Au PYB, MacDonald IM, Arno G, Leroux MR. Chrystal PW, et al. Among authors: arno g. Nat Commun. 2022 Nov 3;13(1):6595. doi: 10.1038/s41467-022-33820-w. Nat Commun. 2022. PMID: 36329026 Free PMC article.
The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement.
Black GC, Sergouniotis P, Sodi A, Leroy BP, Van Cauwenbergh C, Liskova P, Grønskov K, Klett A, Kohl S, Taurina G, Sukys M, Haer-Wigman L, Nowomiejska K, Marques JP, Leroux D, Cremers FPM, De Baere E, Dollfus H; ERN-EYE study group. Black GC, et al. Orphanet J Rare Dis. 2021 Mar 20;16(1):142. doi: 10.1186/s13023-021-01756-x. Orphanet J Rare Dis. 2021. PMID: 33743793 Free PMC article.
In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.
Carmignac V, Thevenon J, Adès L, Callewaert B, Julia S, Thauvin-Robinet C, Gueneau L, Courcet JB, Lopez E, Holman K, Renard M, Plauchu H, Plessis G, De Backer J, Child A, Arno G, Duplomb L, Callier P, Aral B, Vabres P, Gigot N, Arbustini E, Grasso M, Robinson PN, Goizet C, Baumann C, Di Rocco M, Sanchez Del Pozo J, Huet F, Jondeau G, Collod-Beroud G, Beroud C, Amiel J, Cormier-Daire V, Rivière JB, Boileau C, De Paepe A, Faivre L. Carmignac V, et al. Among authors: arno g. Am J Hum Genet. 2012 Nov 2;91(5):950-7. doi: 10.1016/j.ajhg.2012.10.002. Epub 2012 Oct 25. Am J Hum Genet. 2012. PMID: 23103230 Free PMC article.
Letter to the editor.
Arno G, Comeglio P, Child AH. Arno G, et al. Int J Angiol. 2010 Summer;19(2):e94. doi: 10.1055/s-0031-1278369. Int J Angiol. 2010. PMID: 22477598 Free PMC article. No abstract available.
Alternative diagnoses with ectopia lentis.
Chandra A, Aragon Martin JA, Child AH, Arno G, Charteris DG. Chandra A, et al. Among authors: arno g. Eye (Lond). 2012 Mar;26(3):481; author reply 481-2. doi: 10.1038/eye.2011.306. Epub 2011 Dec 2. Eye (Lond). 2012. PMID: 22134590 Free PMC article. No abstract available.
176 results