Results 131 to 140 of about 5,408 (199)

Genotype frequency of Stargardt disease in Labrador Retrievers in Japan. [PDF]

J Vet Med Sci
Takanosu M.
europepmc   +1 more source

Integrating machine learning and GWAS for variant prioritization in the INCIPE cohort highlights ABC transporter genes in chronic kidney disease. [PDF]

Front Genet
Dramane D, Treccani M, Veschetti L, Koffi NBS, Patuzzo C, Ferraro PM, Gambaro G, Noel DD, Malerba G.   +8 more
europepmc   +1 more source

Rod-cone dystrophy with myriad systemic manifestations. [PDF]

Oman J Ophthalmol
Patil G, Pandarasamy P, Reddy NVSK, Ganne P.   +3 more
europepmc   +1 more source

ABCA4 Versus PRPH2-Associated Retinopathy: Clinical and Electrophysiological Findings. [PDF]

Invest Ophthalmol Vis Sci
Heath Jeffery RC, Thompson JA, Lo J, Vincent AL, Patil M, Bianco L, Battaglia Parodi M, Ziccardi L, Dell'Aquila C, Barbano L, Tang WC, Chan CM, Boon CJF, Hensman J, Chen TC, Lin CY, Chen PL, Vincent A, Tumber A, Heon E, Grigg JR, Jamieson RV, Cornish EE, Nash BM, Chou J, Lamey TM, McLenachan S, Roshandel D, Fujinami K, Chelva E, McLaren TL, Chen FK.   +31 more
europepmc   +1 more source

More insights from Abca4^-/- mouse models of recessive Stargardt disease. [PDF]

J Biol Chem
Zhao J, Montenegro D, Cheng S, Kim HJ, Sparrow JR.   +4 more
europepmc   +1 more source

Diagnostic yield and variant spectrum of whole-exome sequencing in Iranian probands with congenital and early-onset ocular disorders. [PDF]

Mol Genet Metab Rep
Asadi A, Sadat Shandiz SA, Ebrahimi A, Hosseini ZS, Shirsalimi N, Neamatzadeh H, Ebrahimi A.   +6 more
europepmc   +1 more source

The Genetic Landscape of Inherited Retinal Diseases in the Israeli Population. [PDF]

Invest Ophthalmol Vis Sci
Shalom S, Gradstein L, Pras E, Valensi J, Birk OS, Blumenfeld A, Eilat A, Macarov M, Poleg T, Cremers FPM, Roosing S, Panneman DM, Hollander N, Goldenberg-Cohen N, Yahalom C, Banin E, Ben-Yosef T, Sharon D.   +17 more
europepmc   +1 more source

Lipid transport mechanisms in human ABCA family transporters: a structural perspective. [PDF]

Biochem Soc Trans
Dolai S, Alam A.
europepmc   +1 more source

Genetic Correlates of Phenotypic Variability in c.5882G>A p.(Gly1961Glu)-Associated Stargardt Disease. [PDF]

Invest Ophthalmol Vis Sci
Pas JAAH, Künzel SH, Ansari G, Pfau K, Chang P, Herrmann P, Holz FG, Hoyng CB, Pfau M.   +8 more
europepmc   +1 more source

Pilot Study of Patient-Reported Outcomes in Stargardt Disease: Correlation With Functional and Structural Findings. [PDF]

Invest Ophthalmol Vis Sci
Hoang J, Amiri I, Dimalanta L, Iannaccone A, Zhang AY.   +4 more
europepmc   +1 more source