Results 121 to 130 of about 7,578 (154)

Retinal Pigment Epithelium-Targeting Gene Therapy Corrects Ocular Symptoms in Mouse and Rat Models of Oculocutaneous Albinism Type I. [PDF]

MedComm (2020)
Song L, Ren C, Luo M, Su J, Jin X, Fu J, Xu Q, Wu X, Liu F, Ye Q, Hu M, Liu M, Li Q, An Y, Li M, Wang Q, She K, Lu F, Yang Y.   +18 more
europepmc   +1 more source

Kidney melanosis associated with a novel HSP-1 Hermansky-Pudlak oculocutaneous albinism mutation: a case report. [PDF]

BMC Nephrol
Ali AA, Saleem ZSM, Jabali SS, Ibrahim NMR, Hughson MD.   +4 more
europepmc   +1 more source

Amelanotic Melanoma in Oculocutaneous Albinism: Clinical Presentation and Diagnostic Pitfalls with Dermoscopic-Histopathological Correlation. [PDF]

Dermatol Pract Concept
Gioco D, Girolami I, Inchaurraga MAG, Massone C, Sola S, Pizzichetta MA.   +5 more
europepmc   +1 more source

Clinical and mutational characteristics of oculocutaneous albinism type 7. [PDF]

Sci Rep
Kruijt CC, de Wit GC, van Minderhout HM, Schalij-Delfos NE, van Genderen MM.   +4 more
europepmc   +1 more source

Ancestral origins of TYR and OCA2 gene mutations in oculocutaneous albinism from two admixed populations in Colombia. [PDF]

PLoS One
Cárdenas WA, Conley AB, Nagar SD, Núñez-Ríos DL, Jordan IK, Lattig MC.   +5 more
europepmc   +1 more source

Comment on "low-vision intervention for oculocutaneous albinism in a tertiary eye care hospital in India". [PDF]

Saudi J Ophthalmol
Sharma N, Chaurasiya SK, Singh M, Kohli P.   +3 more
europepmc   +1 more source

Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families. [PDF]

BMC Ophthalmol
Khan J, Asif S, Ghani S, Khan H, Arshad MW, Khan SA, Lin S, Baple EL, Salter C, Crosby AH, Rawlins L, Shabbir MI.   +11 more
europepmc   +1 more source

Cataract surgery and artificial iris implantation in patient with oculocutaneous albinism: a case report. [PDF]

Arq Bras Oftalmol
Peixoto GV, Martinho GT, Conti CCT, Villaça Filho E, Pinheiro RK.   +4 more
europepmc   +1 more source

Successful treatment of retinopathy of prematurity in oculocutaneous albinism with OCA2 variants: a case report and review of literature. [PDF]

BMC Pediatr
Zheng XY, Wu DW, Yu L, Zhao ZY.
europepmc   +1 more source