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Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants.
Velde HM, Reurink J, Held S, Li CHZ, Yzer S, Oostrik J, Weeda J, Haer-Wigman L, Yntema HG, Roosing S, Pauleikhoff L, Lange C, Whelan L, Dockery A, Zhu J, Keegan DJ, Farrar GJ, Kremer H, Lanting CP, Damme M, Pennings RJE. Velde HM, et al. Among authors: yzer s. Hum Genet. 2022 Nov;141(11):1723-1738. doi: 10.1007/s00439-022-02441-0. Epub 2022 Feb 28. Hum Genet. 2022. PMID: 35226187 Free PMC article.
Evaluation of Sleep Quality and Fatigue in Patients with Usher Syndrome Type 2a.
Hendricks JM, Metz JR, Velde HM, Weeda J, Hartgers F, Yzer S, Hoyng CB, Pennings RJE, Collin RWJ, Boss MHM, de Vrieze E, van Wijk E. Hendricks JM, et al. Among authors: yzer s. Ophthalmol Sci. 2023 May 5;3(4):100323. doi: 10.1016/j.xops.2023.100323. eCollection 2023 Dec. Ophthalmol Sci. 2023. PMID: 37334034 Free PMC article.
Central serous chorioretinopathy: An evidence-based treatment guideline.
Feenstra HMA, van Dijk EHC, Cheung CMG, Ohno-Matsui K, Lai TYY, Koizumi H, Larsen M, Querques G, Downes SM, Yzer S, Breazzano MP, Subhi Y, Tadayoni R, Priglinger SG, Pauleikhoff LJB, Lange CAK, Loewenstein A, Diederen RMH, Schlingemann RO, Hoyng CB, Chhablani JK, Holz FG, Sivaprasad S, Lotery AJ, Yannuzzi LA, Freund KB, Boon CJF. Feenstra HMA, et al. Among authors: yzer s. Prog Retin Eye Res. 2024 Jan 31:101236. doi: 10.1016/j.preteyeres.2024.101236. Online ahead of print. Prog Retin Eye Res. 2024. PMID: 38301969 Free article. Review.
Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis.
den Hollander AI, Koenekoop RK, Yzer S, Lopez I, Arends ML, Voesenek KE, Zonneveld MN, Strom TM, Meitinger T, Brunner HG, Hoyng CB, van den Born LI, Rohrschneider K, Cremers FP. den Hollander AI, et al. Among authors: yzer s. Am J Hum Genet. 2006 Sep;79(3):556-61. doi: 10.1086/507318. Epub 2006 Jul 11. Am J Hum Genet. 2006. PMID: 16909394 Free PMC article.
Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis.
Yzer S, Leroy BP, De Baere E, de Ravel TJ, Zonneveld MN, Voesenek K, Kellner U, Ciriano JP, de Faber JT, Rohrschneider K, Roepman R, den Hollander AI, Cruysberg JR, Meire F, Casteels I, van Moll-Ramirez NG, Allikmets R, van den Born LI, Cremers FP. Yzer S, et al. Invest Ophthalmol Vis Sci. 2006 Mar;47(3):1167-76. doi: 10.1167/iovs.05-0848. Invest Ophthalmol Vis Sci. 2006. PMID: 16505055 Free article.
Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.
den Hollander AI, Lopez I, Yzer S, Zonneveld MN, Janssen IM, Strom TM, Hehir-Kwa JY, Veltman JA, Arends ML, Meitinger T, Musarella MA, van den Born LI, Fishman GA, Maumenee IH, Rohrschneider K, Cremers FP, Koenekoop RK. den Hollander AI, et al. Among authors: yzer s. Invest Ophthalmol Vis Sci. 2007 Dec;48(12):5690-8. doi: 10.1167/iovs.07-0610. Invest Ophthalmol Vis Sci. 2007. PMID: 18055821
Cadherin 5 is regulated by corticosteroids and associated with central serous chorioretinopathy.
Schubert C, Pryds A, Zeng S, Xie Y, Freund KB, Spaide RF, Merriam JC, Barbazetto I, Slakter JS, Chang S, Munch IC, Drack AV, Hernandez J, Yzer S, Merriam JE, Linneberg A, Larsen M, Yannuzzi LA, Mullins RF, Allikmets R. Schubert C, et al. Among authors: yzer s. Hum Mutat. 2014 Jul;35(7):859-67. doi: 10.1002/humu.22551. Hum Mutat. 2014. PMID: 24665005 Free PMC article.
A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population.
Yzer S, van den Born LI, Schuil J, Kroes HY, van Genderen MM, Boonstra FN, van den Helm B, Brunner HG, Koenekoop RK, Cremers FP. Yzer S, et al. J Med Genet. 2003 Sep;40(9):709-13. doi: 10.1136/jmg.40.9.709. J Med Genet. 2003. PMID: 12960219 Free PMC article. No abstract available.
67 results