Results 131 to 140 of about 3,749 (193)

Typical presentation of autosomal recessive oculocutaneous albinism in two siblings. [PDF]

GMS Ophthalmol Cases
Nishant P, Aftab N, Saha B, Raj A.
europepmc   +1 more source

Alterations of Photoreceptor Synaptic Ribbons in the Retina of a Human Patient With Oculocutaneous Albinism Type 1 (OCA1). [PDF]

Invest Ophthalmol Vis Sci
Köller AF, Käsmann-Kellner B, Benseler F, Tschernig T, Löw U, Maxeiner S, Schwarz K, Brose N, Geerling G, Seitz B, Schmitz F.   +10 more
europepmc   +1 more source

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

Clinico-pathologic profile of skin cancers in oculocutaneous albinism at Universitas Academic Hospital. [PDF]

Health SA
Makuru MH, Maruma F, Ngwenya E, Mponda K.   +3 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

OA1: an intracellular GPCR involved in membrane trafficking during melanosome biogenesis

, 2008
Giordano, Francesca
core  

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

Oculocutaneous Albinism-A review

Pure and Applied Biology, 2022
openaire   +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