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Items: 1 to 20 of 39

1.

Keeping an Eye on Bardet-Biedl Syndrome: A Comprehensive Review of the Role of Bardet-Biedl Syndrome Genes in the Eye.

Weihbrecht K, Goar WA, Pak T, Garrison JE, DeLuca AP, Stone EM, Scheetz TE, Sheffield VC.

Med Res Arch. 2017 Sep;5(9). doi: 10.18103/mra.v5i9.1526. Epub 2017 Sep 18.

2.

Bardet-Biedl syndrome-8 (BBS8) protein is crucial for the development of outer segments in photoreceptor neurons.

Dilan TL, Singh RK, Saravanan T, Moye A, Goldberg AFX, Stoilov P, Ramamurthy V.

Hum Mol Genet. 2018 Jan 15;27(2):283-294. doi: 10.1093/hmg/ddx399.

PMID:
29126234
3.

Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families.

Ullah A, Umair M, Yousaf M, Khan SA, Nazim-Ud-Din M, Shah K, Ahmad F, Azeem Z, Ali G, Alhaddad B, Rafique A, Jan A, Haack TB, Strom TM, Meitinger T, Ghous T, Ahmad W.

Mol Vis. 2017 Jul 21;23:482-494. eCollection 2017.

4.

Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario.

Ali MU, Rahman MSU, Cao J, Yuan PX.

3 Biotech. 2017 Aug;7(4):251. doi: 10.1007/s13205-017-0878-3. Epub 2017 Jul 18. Review.

PMID:
28721681
5.

Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration.

Ku CA, Hull S, Arno G, Vincent A, Carss K, Kayton R, Weeks D, Anderson GW, Geraets R, Parker C, Pearce DA, Michaelides M, MacLaren RE, Robson AG, Holder GE, Heon E, Raymond FL, Moore AT, Webster AR, Pennesi ME.

JAMA Ophthalmol. 2017 Jul 1;135(7):749-760. doi: 10.1001/jamaophthalmol.2017.1401.

6.

Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families.

Li L, Chen Y, Jiao X, Jin C, Jiang D, Tanwar M, Ma Z, Huang L, Ma X, Sun W, Chen J, Ma Y, M'hamdi O, Govindarajan G, Cabrera PE, Li J, Gupta N, Naeem MA, Khan SN, Riazuddin S, Akram J, Ayyagari R, Sieving PA, Riazuddin SA, Hejtmancik JF.

Invest Ophthalmol Vis Sci. 2017 Apr 1;58(4):2218-2238. doi: 10.1167/iovs.17-21424. Erratum in: Invest Ophthalmol Vis Sci. 2017 May 1;58(5):2636.

7.

Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma.

Pierrache LHM, Kimchi A, Ratnapriya R, Roberts L, Astuti GDN, Obolensky A, Beryozkin A, Tjon-Fo-Sang MJH, Schuil J, Klaver CCW, Bongers EMHF, Haer-Wigman L, Schalij N, Breuning MH, Fischer GM, Banin E, Ramesar RS, Swaroop A, van den Born LI, Sharon D, Cremers FPM.

Ophthalmology. 2017 Jul;124(7):992-1003. doi: 10.1016/j.ophtha.2017.03.010. Epub 2017 Apr 13.

PMID:
28412069
8.

Simple and complex retinal dystrophies are associated with profoundly different disease networks.

Kiel C, Lastrucci C, Luthert PJ, Serrano L.

Sci Rep. 2017 Jan 31;7:41835. doi: 10.1038/srep41835.

9.

Unraveling the mysteries of pre-mRNA splicing in the retina via stem cell technology.

Collin RW.

Stem Cell Investig. 2016 Nov 4;3:72. eCollection 2016. No abstract available.

10.

Alternative Isoform Analysis of Ttc8 Expression in the Rat Pineal Gland Using a Multi-Platform Sequencing Approach Reveals Neural Regulation.

Hartley SW, Mullikin JC, Klein DC, Park M; NISC Comparative Sequencing Program, Coon SL.

PLoS One. 2016 Sep 29;11(9):e0163590. doi: 10.1371/journal.pone.0163590. eCollection 2016.

11.

The Musashi 1 Controls the Splicing of Photoreceptor-Specific Exons in the Vertebrate Retina.

Murphy D, Cieply B, Carstens R, Ramamurthy V, Stoilov P.

PLoS Genet. 2016 Aug 19;12(8):e1006256. doi: 10.1371/journal.pgen.1006256. eCollection 2016 Aug. Erratum in: PLoS Genet. 2016 Nov 3;12 (11):e1006432.

12.

Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases.

Ullah I, Kabir F, Iqbal M, Gottsch CB, Naeem MA, Assir MZ, Khan SN, Akram J, Riazuddin S, Ayyagari R, Hejtmancik JF, Riazuddin SA.

Mol Vis. 2016 Jul 16;22:797-815. eCollection 2016.

13.

Structural and molecular bases of rod photoreceptor morphogenesis and disease.

Wensel TG, Zhang Z, Anastassov IA, Gilliam JC, He F, Schmid MF, Robichaux MA.

Prog Retin Eye Res. 2016 Nov;55:32-51. doi: 10.1016/j.preteyeres.2016.06.002. Epub 2016 Jun 22. Review.

14.

Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases.

Kabir F, Ullah I, Ali S, Gottsch AD, Naeem MA, Assir MZ, Khan SN, Akram J, Riazuddin S, Ayyagari R, Hejtmancik JF, Riazuddin SA.

Mol Vis. 2016 Jun 10;22:610-25. eCollection 2016.

15.

Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21).

Heon E, Kim G, Qin S, Garrison JE, Tavares E, Vincent A, Nuangchamnong N, Scott CA, Slusarski DC, Sheffield VC.

Hum Mol Genet. 2016 Jun 1;25(11):2283-2294. Epub 2016 Mar 22.

16.

A Splice Variant of Bardet-Biedl Syndrome 5 (BBS5) Protein that Is Selectively Expressed in Retina.

Bolch SN, Dugger DR, Chong T, McDowell JH, Smith WC.

PLoS One. 2016 Feb 11;11(2):e0148773. doi: 10.1371/journal.pone.0148773. eCollection 2016.

17.

Retinal dystrophies, genomic applications in diagnosis and prospects for therapy.

Nash BM, Wright DC, Grigg JR, Bennetts B, Jamieson RV.

Transl Pediatr. 2015 Apr;4(2):139-63. doi: 10.3978/j.issn.2224-4336.2015.04.03. Review.

18.

FAM161A and TTC8 are Differentially Expressed in Non-Allelelic Early Onset Retinal Degeneration.

Downs LM, Aguirre GD.

Adv Exp Med Biol. 2016;854:201-7. doi: 10.1007/978-3-319-17121-0_27.

19.

A novel mutation in TTC8 is associated with progressive retinal atrophy in the golden retriever.

Downs LM, Wallin-Håkansson B, Bergström T, Mellersh CS.

Canine Genet Epidemiol. 2014 Apr 16;1:4. doi: 10.1186/2052-6687-1-4. eCollection 2014.

20.

Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies.

Beryozkin A, Shevah E, Kimchi A, Mizrahi-Meissonnier L, Khateb S, Ratnapriya R, Lazar CH, Blumenfeld A, Ben-Yosef T, Hemo Y, Pe'er J, Averbuch E, Sagi M, Boleda A, Gieser L, Zlotogorski A, Falik-Zaccai T, Alimi-Kasem O, Jacobson SG, Chowers I, Swaroop A, Banin E, Sharon D.

Sci Rep. 2015 Aug 26;5:13187. doi: 10.1038/srep13187.

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