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Recognizing differentiating clinical signs of CLN3 disease (Batten disease) at presentation.
Kuper WFE, Talsma HE, van Schooneveld MJ, Pott JWR, Huijgen BCH, de Wit GC, van Hasselt PM, van Genderen MM. Kuper WFE, et al. Among authors: van genderen mm, van schooneveld mj, van hasselt pm. Acta Ophthalmol. 2021 Jun;99(4):397-404. doi: 10.1111/aos.14630. Epub 2020 Oct 18. Acta Ophthalmol. 2021. PMID: 33073538 Free PMC article.
Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations.
Littink KW, Koenekoop RK, van den Born LI, Collin RW, Moruz L, Veltman JA, Roosing S, Zonneveld MN, Omar A, Darvish M, Lopez I, Kroes HY, van Genderen MM, Hoyng CB, Rohrschneider K, van Schooneveld MJ, Cremers FP, den Hollander AI. Littink KW, et al. Among authors: van genderen mm, van schooneveld mj, van den born li. Invest Ophthalmol Vis Sci. 2010 Nov;51(11):5943-51. doi: 10.1167/iovs.10-5797. Epub 2010 Jun 16. Invest Ophthalmol Vis Sci. 2010. PMID: 20554613 Free PMC article.
Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy.
Thiadens AA, Phan TM, Zekveld-Vroon RC, Leroy BP, van den Born LI, Hoyng CB, Klaver CC; Writing Committee for the Cone Disorders Study Group Consortium; Roosing S, Pott JW, van Schooneveld MJ, van Moll-Ramirez N, van Genderen MM, Boon CJ, den Hollander AI, Bergen AA, De Baere E, Cremers FP, Lotery AJ. Thiadens AA, et al. Among authors: van genderen mm, van schooneveld mj, van den born li, van moll ramirez n. Ophthalmology. 2012 Apr;119(4):819-26. doi: 10.1016/j.ophtha.2011.10.011. Epub 2012 Jan 20. Ophthalmology. 2012. PMID: 22264887
A homozygous frameshift mutation in LRAT causes retinitis punctata albescens.
Littink KW, van Genderen MM, van Schooneveld MJ, Visser L, Riemslag FC, Keunen JE, Bakker B, Zonneveld MN, den Hollander AI, Cremers FP, van den Born LI. Littink KW, et al. Among authors: van genderen mm, van schooneveld mj, van den born li. Ophthalmology. 2012 Sep;119(9):1899-906. doi: 10.1016/j.ophtha.2012.02.037. Epub 2012 May 3. Ophthalmology. 2012. PMID: 22559933
Crowding ratio in young normally sighted children.
Dekker MJ, Pilon F, Bijveld MM, de Wit GC, van Genderen MM. Dekker MJ, et al. Among authors: van genderen mm. Strabismus. 2012 Jun;20(2):49-54. doi: 10.3109/09273972.2012.680233. Strabismus. 2012. PMID: 22612352
Genotype and phenotype of 101 dutch patients with congenital stationary night blindness.
Bijveld MM, Florijn RJ, Bergen AA, van den Born LI, Kamermans M, Prick L, Riemslag FC, van Schooneveld MJ, Kappers AM, van Genderen MM. Bijveld MM, et al. Among authors: van genderen mm, van schooneveld mj, van den born li. Ophthalmology. 2013 Oct;120(10):2072-81. doi: 10.1016/j.ophtha.2013.03.002. Epub 2013 May 25. Ophthalmology. 2013. PMID: 23714322
88 results