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Items: 1 to 20 of 490

1.

Molecular diagnosis of putative Stargardt Disease probands by exome sequencing.

Strom SP, Gao YQ, Martinez A, Ortube C, Chen Z, Nelson SF, Nusinowitz S, Farber DB, Gorin MB.

BMC Med Genet. 2012 Aug 3;13:67.

2.

Evaluation of the ELOVL4, PRPH2 and ABCA4 genes in patients with Stargardt macular degeneration.

Yi J, Li S, Jia X, Xiao X, Wang P, Guo X, Zhang Q.

Mol Med Rep. 2012 Nov;6(5):1045-9. doi: 10.3892/mmr.2012.1063. Epub 2012 Sep 4.

PMID:
22948568
3.

ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype.

Poloschek CM, Bach M, Lagrèze WA, Glaus E, Lemke JR, Berger W, Neidhardt J.

Invest Ophthalmol Vis Sci. 2010 Aug;51(8):4253-65. doi: 10.1167/iovs.09-4655. Epub 2010 Mar 24.

PMID:
20335603
4.

Molecular analysis of ABCA4 and CRB1 genes in a Spanish family segregating both Stargardt disease and autosomal recessive retinitis pigmentosa.

Riveiro-Alvarez R, Vallespin E, Wilke R, Garcia-Sandoval B, Cantalapiedra D, Aguirre-Lamban J, Avila-Fernandez A, Gimenez A, Trujillo-Tiebas MJ, Ayuso C.

Mol Vis. 2008 Feb 4;14:262-7.

5.

Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management.

Bocquet B, Lacroux A, Surget MO, Baudoin C, Marquette V, Manes G, Hebrard M, Sénéchal A, Delettre C, Roux AF, Claustres M, Dhaenens CM, Rozet JM, Perrault I, Bonnefont JP, Kaplan J, Dollfus H, Amati-Bonneau P, Bonneau D, Reynier P, Audo I, Zeitz C, Sahel JA, Paquis-Flucklinger V, Calvas P, Arveiler B, Kohl S, Wissinger B, Blanchet C, Meunier I, Hamel CP.

Ophthalmic Epidemiol. 2013;20(1):13-25. doi: 10.3109/09286586.2012.737890.

PMID:
23350551
6.

Novel mutations in CRB1 and ABCA4 genes cause Leber congenital amaurosis and Stargardt disease in a Swedish family.

Jonsson F, Burstedt MS, Sandgren O, Norberg A, Golovleva I.

Eur J Hum Genet. 2013 Nov;21(11):1266-71. doi: 10.1038/ejhg.2013.23. Epub 2013 Feb 27.

7.

Molecular diagnosis of putative Stargardt disease by capture next generation sequencing.

Zhang X, Ge X, Shi W, Huang P, Min Q, Li M, Yu X, Wu Y, Zhao G, Tong Y, Jin ZB, Qu J, Gu F.

PLoS One. 2014 Apr 24;9(4):e95528. doi: 10.1371/journal.pone.0095528. eCollection 2014.

8.

Whole exome sequencing identifies CRB1 defect in an unusual maculopathy phenotype.

Tsang SH, Burke T, Oll M, Yzer S, Lee W, Xie YA, Allikmets R.

Ophthalmology. 2014 Sep;121(9):1773-82. doi: 10.1016/j.ophtha.2014.03.010. Epub 2014 May 6.

9.

Autosomal dominant macular dystrophy in a large Canadian family.

Donoso LA, Hageman G, Frost A, Sheffield V, Beck J, Hébert M, MacDonald IM.

Can J Ophthalmol. 2003 Feb;38(1):33-40.

PMID:
12608515
10.

Intrafamilial phenotypic variability in families with RDS mutations: exclusion of ROM1 as a genetic modifier for those with retinitis pigmentosa.

Leroy BP, Kailasanathan A, De Laey JJ, Black GC, Manson FD.

Br J Ophthalmol. 2007 Jan;91(1):89-93. Epub 2006 Aug 17.

11.

ABCA4 mutational spectrum in Mexican patients with Stargardt disease: Identification of 12 novel mutations and evidence of a founder effect for the common p.A1773V mutation.

Chacón-Camacho OF, Granillo-Alvarez M, Ayala-Ramírez R, Zenteno JC.

Exp Eye Res. 2013 Apr;109:77-82. doi: 10.1016/j.exer.2013.02.006. Epub 2013 Feb 16.

PMID:
23419329
12.

Genetic heterogeneity of butterfly-shaped pigment dystrophy of the fovea.

van Lith-Verhoeven JJ, Cremers FP, van den Helm B, Hoyng CB, Deutman AF.

Mol Vis. 2003 Apr 24;9:138-43.

13.

Detection of CRB1 mutations in families with retinal dystrophy through phenotype-oriented mutational screening.

Li S, Shen T, Xiao X, Guo X, Zhang Q.

Int J Mol Med. 2014 Apr;33(4):913-8. doi: 10.3892/ijmm.2014.1655. Epub 2014 Feb 12.

PMID:
24535598
14.

Identification of Genetic Defects in 33 Probands with Stargardt Disease by WES-Based Bioinformatics Gene Panel Analysis.

Xin W, Xiao X, Li S, Jia X, Guo X, Zhang Q.

PLoS One. 2015 Jul 10;10(7):e0132635. doi: 10.1371/journal.pone.0132635. eCollection 2015.

15.

Inherited macular dystrophies and differential diagnostics.

Liutkevičienė R, Lesauskaitė V, Ašmonienė V, Gelžinis A, Zaliūnienė D, Jašinskas V.

Medicina (Kaunas). 2012;48(9):485-95. Review.

16.

A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration.

Rivera A, White K, Stöhr H, Steiner K, Hemmrich N, Grimm T, Jurklies B, Lorenz B, Scholl HP, Apfelstedt-Sylla E, Weber BH.

Am J Hum Genet. 2000 Oct;67(4):800-13. Epub 2000 Aug 24.

17.

Exome sequencing reveals novel and recurrent mutations with clinical significance in inherited retinal dystrophies.

González-del Pozo M, Méndez-Vidal C, Bravo-Gil N, Vela-Boza A, Dopazo J, Borrego S, Antiñolo G.

PLoS One. 2014 Dec 29;9(12):e116176. doi: 10.1371/journal.pone.0116176. eCollection 2014. Erratum in: PLoS One. 2015;10(3):e0120166.

18.

Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss.

Alapati A, Goetz K, Suk J, Navani M, Al-Tarouti A, Jayasundera T, Tumminia SJ, Lee P, Ayyagari R.

Invest Ophthalmol Vis Sci. 2014 Jul 31;55(9):5510-21. doi: 10.1167/iovs.14-14359.

19.

Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis.

Corton M, Nishiguchi KM, Avila-Fernández A, Nikopoulos K, Riveiro-Alvarez R, Tatu SD, Ayuso C, Rivolta C.

PLoS One. 2013 Jun 14;8(6):e65574. doi: 10.1371/journal.pone.0065574. Print 2013. Erratum in: PLoS One. 2016;11(3):e0153121.

20.

Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations.

Renner AB, Fiebig BS, Weber BH, Wissinger B, Andreasson S, Gal A, Cropp E, Kohl S, Kellner U.

Am J Ophthalmol. 2009 Mar;147(3):518-530.e1. doi: 10.1016/j.ajo.2008.09.007. Epub 2008 Nov 26.

PMID:
19038374
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