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Page 1
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
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
Genotypic and Phenotypic Characteristics of CRB1-Associated Retinal Dystrophies: A Long-Term Follow-up Study.
Talib M, van Schooneveld MJ, van Genderen MM, Wijnholds J, Florijn RJ, Ten Brink JB, Schalij-Delfos NE, Dagnelie G, Cremers FPM, Wolterbeek R, Fiocco M, Thiadens AA, Hoyng CB, Klaver CC, Bergen AA, Boon CJF. Talib M, et al. Among authors: van genderen mm, van schooneveld mj. Ophthalmology. 2017 Jun;124(6):884-895. doi: 10.1016/j.ophtha.2017.01.047. Epub 2017 Mar 21. Ophthalmology. 2017. PMID: 28341475
CLINICAL AND GENETIC CHARACTERISTICS OF MALE PATIENTS WITH RPGR-ASSOCIATED RETINAL DYSTROPHIES: A Long-Term Follow-up Study.
Talib M, van Schooneveld MJ, Thiadens AA, Fiocco M, Wijnholds J, Florijn RJ, Schalij-Delfos NE, van Genderen MM, Putter H, Cremers FPM, Dagnelie G, Ten Brink JB, Klaver CCW, van den Born LI, Hoyng CB, Bergen AA, Boon CJF. Talib M, et al. Among authors: van genderen mm, van schooneveld mj, van den born li. Retina. 2019 Jun;39(6):1186-1199. doi: 10.1097/IAE.0000000000002125. Retina. 2019. PMID: 29528978
The Spectrum of Structural and Functional Abnormalities in Female Carriers of Pathogenic Variants in the RPGR Gene.
Talib M, van Schooneveld MJ, Van Cauwenbergh C, Wijnholds J, Ten Brink JB, Florijn RJ, Schalij-Delfos NE, Dagnelie G, van Genderen MM, De Baere E, Meester-Smoor MA, De Zaeytijd J, Cremers FPM, van den Born LI, Thiadens AA, Hoyng CB, Klaver CC, Leroy BP, Bergen AA, Boon CJF. Talib M, et al. Among authors: van genderen mm, van schooneveld mj, van den born li, van cauwenbergh c. Invest Ophthalmol Vis Sci. 2018 Aug 1;59(10):4123-4133. doi: 10.1167/iovs.17-23453. Invest Ophthalmol Vis Sci. 2018. PMID: 30105367
Clinical Characterization of 66 Patients With Congenital Retinal Disease Due to the Deep-Intronic c.2991+1655A>G Mutation in CEP290.
Valkenburg D, van Cauwenbergh C, Lorenz B, van Genderen MM, Bertelsen M, Pott JR, Coppieters F, de Zaeytijd J, Thiadens AAHJ, Klaver CCW, Kroes HY, van Schooneveld MJ, Preising M, Hoyng CB, Leroy BP, van den Born LI, Collin RWJ. Valkenburg D, et al. Among authors: van genderen mm, van schooneveld mj, van den born li, van cauwenbergh c. Invest Ophthalmol Vis Sci. 2018 Sep 4;59(11):4384-4391. doi: 10.1167/iovs.18-24817. Invest Ophthalmol Vis Sci. 2018. PMID: 30193310
CLINICAL CHARACTERISTICS AND NATURAL HISTORY OF RHO-ASSOCIATED RETINITIS PIGMENTOSA: A Long-Term Follow-Up Study.
Nguyen XT, Talib M, van Cauwenbergh C, van Schooneveld MJ, Fiocco M, Wijnholds J, Ten Brink JB, Florijn RJ, Schalij-Delfos NE, Dagnelie G, van Genderen MM, de Baere E, Meester-Smoor MA, De Zaeytijd J, Balikova I, Thiadens AA, Hoyng CB, Klaver CC, van den Born LI, Bergen AA, Leroy BP, Boon CJF. Nguyen XT, et al. Among authors: van genderen mm, van schooneveld mj, van den born li, van cauwenbergh c. Retina. 2021 Jan 1;41(1):213-223. doi: 10.1097/IAE.0000000000002808. Retina. 2021. PMID: 32301896
94 results