MYO7A-associated and other genetic forms of Usher syndrome

SUMMARY

MYO7A-, USH2A-associated and other genetic forms of Usher syndrome

 


9 PUBLICATIONS ON USHER SYNDROME

191. Calzetti G, Levy RA,  CIDECIYAN AV, Garafalo AV, Roman AJ, Sumaroka A, Charng J, Heon E, Jacobson SG. Efficacy outcome measures for clinical trials of USH2A caused by the common c.2299delG mutation. American Journal of Ophthalmology, 193:114–129, 2018. [PubMed]

163. Sumaroka A, Matsui R, CIDECIYAN AV, McGuigan DB 3rd, Sheplock R, Schwartz SB, Jacobson SG. Outer retinal changes including the ellipsoid zone band in Usher syndrome 1B due to MYO7A mutations. Investigative Ophthalmology & Visual Science 57:OCT253-61, 2016. [PubMed]

108. Jacobson SG, Roman AJ, Aleman TS, Sumaroka A, Herrera W, Windsor EAM, Atkinson LA, Schwartz SB, Steinberg JD, CIDECIYAN AV. Normal central retinal function and structure preserved in retinitis pigmentosa. Investigative Ophthalmology & Visual Science, 51:1079 –1085, 2010. [PubMed]

105. Gibbs D, CIDECIYAN AV, Jacobson SG, Williams DS. Retinal pigment epithelium defects in humans and mice with mutations in MYO7A: imaging melanosome-specific autofluorescence. Investigative Ophthalmology & Visual Science, 50:4386-4393, 2009. [PubMed]

100. Jacobson SG, Aleman TS, Sumaroka A, CIDECIYAN AV, Roman AJ, Windsor EAM, Schwartz SB, Rehm HL, Kimberling WJ. Disease boundaries in the retina of patients with Usher syndrome caused by MYO7A gene mutations. Investigative Ophthalmology & Visual Science, 50:1886-1894, 2009. [PubMed]

94. Jacobson SG, CIDECIYAN AV, Aleman TS, Sumaroka A, Roman AJ, Gardner LM, Prosser HM, Mishra M, Bech-Hansen NT, Herrera W, Schwartz SB, Liu XZ, Kimberling WJ, Steel KP, Williams DS. Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism. Human Molecular Genetics, 17:2405-2415, 2008. [PubMed]

91. Herrera W, Aleman TS, CIDECIYAN AV, Roman AJ, Banin E, Ben-Yosef T, Gardner LM, Sumaroka A, Windsor EAM, Schwartz SB, Stone EM, Liu X-Z, Kimberling WJ, Jacobson SG. Retinal disease in Usher syndrome III caused by mutations in the Clarin-1 gene. Investigative Ophthalmology & Visual Science, 49:2651-2660, 2008.[PubMed]

66. Schwartz SB, Aleman TS, CIDECIYAN AV, Windsor EAM, Sumaroka A, Roman AJ, Rane T, Smilko EE, Bennett J, Stone EM, Kimberling WJ, Liu X-Z, Jacobson SG. Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype. Investigative Ophthalmology & Visual Science 46:734–743, 2005. [PubMed]

44. Aleman TS, Duncan JL, Bieber ML, de Castro E, Marks DA, Gardner LM, Steinberg JD, CIDECIYAN AV, Maguire MG, Jacobson SG. Macular pigment and lutein supplementation in retinitis pigmentosa and Usher syndrome. Investigative Ophthalmology & Visual Science 42:1873-1881, 2001. [PubMed]


Last updated June 28, 2018