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Items: 1 to 20 of 496

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.

4.

Phenotypic features of CRB1-associated early-onset severe retinal dystrophy and the different molecular approaches to identifying the disease-causing variants.

Kousal B, Dudakova L, Gaillyova R, Hejtmankova M, Diblik P, Michaelides M, Liskova P.

Graefes Arch Clin Exp Ophthalmol. 2016 Sep;254(9):1833-9. doi: 10.1007/s00417-016-3358-2. Epub 2016 Apr 25.

PMID:
27113771
5.

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.

6.

A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration.

Gorin MB, Jackson KE, Ferrell RE, Sheffield VC, Jacobson SG, Gass JD, Mitchell E, Stone EM.

Ophthalmology. 1995 Feb;102(2):246-55.

PMID:
7862413
7.

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.

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.

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
10.

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.

11.

Analysis of ELOVL4 and PRPH2 genes in Turkish Stargardt disease patients.

Bardak H, Gunay M, Erçalık Y, Bardak Y, Ozbas H, Bagci O, Ayata A, Sönmez M, Alagöz C.

Genet Mol Res. 2016 Oct 24;15(4). doi: 10.4238/gmr15048774.

PMID:
27813578
12.

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.

13.

A Report on Molecular Diagnostic Testing for Inherited Retinal Dystrophies by Targeted Genetic Analyses.

Ramkumar HL, Gudiseva HV, Kishaba KT, Suk JJ, Verma R, Tadimeti K, Thorson JA, Ayyagari R.

Genet Test Mol Biomarkers. 2017 Feb;21(2):66-73. doi: 10.1089/gtmb.2016.0251. Epub 2016 Dec 22.

14.

PRPH2 (Peripherin/RDS) mutations associated with different macular dystrophies in a Spanish population: a new mutation.

Coco RM, Tellería JJ, Sanabria MR, Rodríguez-Rúa E, García MT.

Eur J Ophthalmol. 2010 Jul-Aug;20(4):724-32.

PMID:
20213611
15.

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
16.

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
17.

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.

18.

Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned.

Almoguera B, Li J, Fernandez-San Jose P, Liu Y, March M, Pellegrino R, Golhar R, Corton M, Blanco-Kelly F, López-Molina MI, García-Sandoval B, Guo Y, Tian L, Liu X, Guan L, Zhang J, Keating B, Xu X, Hakonarson H, Ayuso C.

PLoS One. 2015 Jul 21;10(7):e0133624. doi: 10.1371/journal.pone.0133624. eCollection 2015.

19.

Identification of Novel and Recurrent Disease-Causing Mutations in Retinal Dystrophies Using Whole Exome Sequencing (WES): Benefits and Limitations.

Tiwari A, Lemke J, Altmueller J, Thiele H, Glaus E, Fleischhauer J, Nürnberg P, Neidhardt J, Berger W.

PLoS One. 2016 Jul 8;11(7):e0158692. doi: 10.1371/journal.pone.0158692. eCollection 2016.

20.

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.

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