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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: maumenee ih. Invest Ophthalmol Vis Sci. 2007 Dec;48(12):5690-8. doi: 10.1167/iovs.07-0610. Invest Ophthalmol Vis Sci. 2007. PMID: 18055821
IQCB1 mutations in patients with leber congenital amaurosis.
Estrada-Cuzcano A, Koenekoop RK, Coppieters F, Kohl S, Lopez I, Collin RW, De Baere EB, Roeleveld D, Marek J, Bernd A, Rohrschneider K, van den Born LI, Meire F, Maumenee IH, Jacobson SG, Hoyng CB, Zrenner E, Cremers FP, den Hollander AI. Estrada-Cuzcano A, et al. Among authors: maumenee ih. Invest Ophthalmol Vis Sci. 2011 Feb 11;52(2):834-9. doi: 10.1167/iovs.10-5221. Invest Ophthalmol Vis Sci. 2011. PMID: 20881296
The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations.
Dharmaraj S, Leroy BP, Sohocki MM, Koenekoop RK, Perrault I, Anwar K, Khaliq S, Devi RS, Birch DG, De Pool E, Izquierdo N, Van Maldergem L, Ismail M, Payne AM, Holder GE, Bhattacharya SS, Bird AC, Kaplan J, Maumenee IH. Dharmaraj S, et al. Among authors: maumenee ih. Arch Ophthalmol. 2004 Jul;122(7):1029-37. doi: 10.1001/archopht.122.7.1029. Arch Ophthalmol. 2004. PMID: 15249368
Mutational analysis and clinical correlation in Leber congenital amaurosis.
Dharmaraj SR, Silva ER, Pina AL, Li YY, Yang JM, Carter CR, Loyer MK, El-Hilali HK, Traboulsi EK, Sundin OK, Zhu DK, Koenekoop RK, Maumenee IH. Dharmaraj SR, et al. Among authors: maumenee ih. Ophthalmic Genet. 2000 Sep;21(3):135-50. Ophthalmic Genet. 2000. PMID: 11035546
Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.
den Hollander AI, Koenekoop RK, Mohamed MD, Arts HH, Boldt K, Towns KV, Sedmak T, Beer M, Nagel-Wolfrum K, McKibbin M, Dharmaraj S, Lopez I, Ivings L, Williams GA, Springell K, Woods CG, Jafri H, Rashid Y, Strom TM, van der Zwaag B, Gosens I, Kersten FF, van Wijk E, Veltman JA, Zonneveld MN, van Beersum SE, Maumenee IH, Wolfrum U, Cheetham ME, Ueffing M, Cremers FP, Inglehearn CF, Roepman R. den Hollander AI, et al. Among authors: maumenee ih. Nat Genet. 2007 Jul;39(7):889-95. doi: 10.1038/ng2066. Epub 2007 Jun 3. Nat Genet. 2007. PMID: 17546029
170 results