Format
Sort by

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 293

1.

Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration.

Azari AA, Aleman TS, Cideciyan AV, Schwartz SB, Windsor EA, Sumaroka A, Cheung AY, Steinberg JD, Roman AJ, Stone EM, Sheffield VC, Jacobson SG.

Invest Ophthalmol Vis Sci. 2006 Nov;47(11):5004-10.

PMID:
17065520
2.

Retinal degenerations with truncation mutations in the cone-rod homeobox (CRX) gene.

Jacobson SG, Cideciyan AV, Huang Y, Hanna DB, Freund CL, Affatigato LM, Carr RE, Zack DJ, Stone EM, McInnes RR.

Invest Ophthalmol Vis Sci. 1998 Nov;39(12):2417-26.

PMID:
9804150
3.

CERKL mutations cause an autosomal recessive cone-rod dystrophy with inner retinopathy.

Aleman TS, Soumittra N, Cideciyan AV, Sumaroka AM, Ramprasad VL, Herrera W, Windsor EA, Schwartz SB, Russell RC, Roman AJ, Inglehearn CF, Kumaramanickavel G, Stone EM, Fishman GA, Jacobson SG.

Invest Ophthalmol Vis Sci. 2009 Dec;50(12):5944-54. doi: 10.1167/iovs.09-3982. Epub 2009 Jul 2.

PMID:
19578027
4.

Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype.

Schwartz SB, Aleman TS, Cideciyan AV, Windsor EA, Sumaroka A, Roman AJ, Rane T, Smilko EE, Bennett J, Stone EM, Kimberling WJ, Liu XZ, Jacobson SG.

Invest Ophthalmol Vis Sci. 2005 Feb;46(2):734-43.

PMID:
15671307
5.

Phenotypic expression of Bardet-Biedl syndrome in patients homozygous for the common M390R mutation in the BBS1 gene.

Cox KF, Kerr NC, Kedrov M, Nishimura D, Jennings BJ, Stone EM, Sheffield VC, Iannaccone A.

Vision Res. 2012 Dec 15;75:77-87. doi: 10.1016/j.visres.2012.08.005. Epub 2012 Aug 24.

6.

TUDCA slows retinal degeneration in two different mouse models of retinitis pigmentosa and prevents obesity in Bardet-Biedl syndrome type 1 mice.

Drack AV, Dumitrescu AV, Bhattarai S, Gratie D, Stone EM, Mullins R, Sheffield VC.

Invest Ophthalmol Vis Sci. 2012 Jan 5;53(1):100-6. doi: 10.1167/iovs.11-8544.

7.

Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome.

Scheidecker S, Hull S, Perdomo Y, Studer F, Pelletier V, Muller J, Stoetzel C, Schaefer E, Defoort-Dhellemmes S, Drumare I, Holder GE, Hamel CP, Webster AR, Moore AT, Puech B, Dollfus HJ.

Am J Ophthalmol. 2015 Aug;160(2):364-372.e1. doi: 10.1016/j.ajo.2015.05.007. Epub 2015 May 15.

PMID:
25982971
8.

Genotype-phenotype correlation in a German family with a novel complex CRX mutation extending the open reading frame.

Paunescu K, Preising MN, Janke B, Wissinger B, Lorenz B.

Ophthalmology. 2007 Jul;114(7):1348-1357.e1. Epub 2007 Feb 22. Review.

PMID:
17320181
9.

Retinal disease in Usher syndrome III caused by mutations in the clarin-1 gene.

Herrera W, Aleman TS, Cideciyan AV, Roman AJ, Banin E, Ben-Yosef T, Gardner LM, Sumaroka A, Windsor EA, Schwartz SB, Stone EM, Liu XZ, Kimberling WJ, Jacobson SG.

Invest Ophthalmol Vis Sci. 2008 Jun;49(6):2651-60. doi: 10.1167/iovs.07-1505. Epub 2008 Feb 15.

PMID:
18281613
10.

Human retinal disease from AIPL1 gene mutations: foveal cone loss with minimal macular photoreceptors and rod function remaining.

Jacobson SG, Cideciyan AV, Aleman TS, Sumaroka A, Roman AJ, Swider M, Schwartz SB, Banin E, Stone EM.

Invest Ophthalmol Vis Sci. 2011 Jan 5;52(1):70-9. doi: 10.1167/iovs.10-6127.

PMID:
20702822
11.

Spinocerebellar ataxia type 7 (SCA7) shows a cone-rod dystrophy phenotype.

Aleman TS, Cideciyan AV, Volpe NJ, Stevanin G, Brice A, Jacobson SG.

Exp Eye Res. 2002 Jun;74(6):737-45.

PMID:
12126946
12.

The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene.

Klevering BJ, Deutman AF, Maugeri A, Cremers FP, Hoyng CB.

Graefes Arch Clin Exp Ophthalmol. 2005 Feb;243(2):90-100. Epub 2004 Dec 22.

PMID:
15614537
13.

Tubby-like protein 1 homozygous splice-site mutation causes early-onset severe retinal degeneration.

Lewis CA, Batlle IR, Batlle KG, Banerjee P, Cideciyan AV, Huang J, Alemán TS, Huang Y, Ott J, Gilliam TC, Knowles JA, Jacobson SG.

Invest Ophthalmol Vis Sci. 1999 Aug;40(9):2106-14.

PMID:
10440267
14.

Patterns of rod and cone dysfunction in Bardet-Biedl syndrome.

Jacobson SG, Borruat FX, Apáthy PP.

Am J Ophthalmol. 1990 Jun 15;109(6):676-88.

PMID:
2346197
15.

Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosa.

Jacobson SG, Cideciyan AV, Iannaccone A, Weleber RG, Fishman GA, Maguire AM, Affatigato LM, Bennett J, Pierce EA, Danciger M, Farber DB, Stone EM.

Invest Ophthalmol Vis Sci. 2000 Jun;41(7):1898-908.

PMID:
10845615
16.

Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity.

Hayashi T, Gekka T, Goto-Omoto S, Takeuchi T, Kubo A, Kitahara K.

Ophthalmology. 2005 Dec;112(12):2115. Epub 2005 Oct 12.

PMID:
16225923
17.

Genotype phenotype analysis of Bietti's crystalline dystrophy in patients with CYP4V2 mutations.

Lai TY, Ng TK, Tam PO, Yam GH, Ngai JW, Chan WM, Liu DT, Lam DS, Pang CP.

Invest Ophthalmol Vis Sci. 2007 Nov;48(11):5212-20.

PMID:
17962476
18.

Genotype-phenotype correlations in Bardet-Biedl syndrome.

Daniels AB, Sandberg MA, Chen J, Weigel-DiFranco C, Fielding Hejtmancic J, Berson EL.

Arch Ophthalmol. 2012 Jul;130(7):901-7. doi: 10.1001/archophthalmol.2012.89.

PMID:
22410627
19.

A novel founder BBS1 mutation explains a unique high prevalence of Bardet-Biedl syndrome in the Faroe Islands.

Hjortshøj TD, Grønskov K, Brøndum-Nielsen K, Rosenberg T.

Br J Ophthalmol. 2009 Mar;93(3):409-13. doi: 10.1136/bjo.2007.131110. Epub 2008 Jul 31.

PMID:
18669544
20.

Retinal dysfunction in carriers of bardet-biedl syndrome.

Kim LS, Fishman GA, Seiple WH, Szlyk JP, Stone EM.

Ophthalmic Genet. 2007 Sep;28(3):163-8.

PMID:
17896315
Items per page

Supplemental Content

Write to the Help Desk