Results 161 to 170 of about 6,439 (248)

Abnormal foveal morphology in carriers of oculocutaneous albinism. [PDF]

Br J Ophthalmol, 2023
Kuht HJ, Thomas MG, McLean RJ, Sheth V, Proudlock FA, Gottlob I.   +5 more
europepmc   +1 more source

Visual deficits in Nepalese patients with oculocutaneous albinism

, 2015
Safal Khanal, Amrit Pokharel, Himal Kandel   +2 more
openalex   +1 more source

Mutation Analysis of 63 Northwest Chinese Probands with Oculocutaneous Albinism

, 2020
Chuan Zhang, Yousheng Yan, Shengju Hao, Qinghua Zhang, Bingbo Zhou, Xuan Feng, Xing Wang, Furong Liu, Lei Zheng, Zongfu Cao, Xu Ma   +10 more
openalex   +2 more sources

Phenotypic variations in ocular features among siblings with oculocutaneous albinism. [PDF]

Indian J Ophthalmol, 2022
Bhate M, Lalwani S, Chakrabarti S.
europepmc   +1 more source

Genome-wide association studies identify multiple genetic loci influencing eyebrow color variation in Europeans [PDF]

, 2019
Chen, Yan, Duffy, David L., Eller, Ryan J., Hamer, Merel A., Hopkins, Racquel L., Hysi, Pirro G., Ikram, M. Arfan, Jacobus, Case L., Kayser, Manfred, Li, Yi, Liu, Fan, Martin, Nicholas G., Medland, Sarah E., Nijsten, Tamar, Peng, Fuduan, Spector, Timothy D., Uitterlinden, André G., Wallace, Paige L., Walsh, Susan, Zeng, Changqing, Zhu, Gu   +20 more
core   +1 more source

Expanding the Spectrum of Oculocutaneous Albinism: Does Isolated Foveal Hypoplasia Really Exist? [PDF]

Int J Mol Sci, 2022
Rocca C, Tiberi L, Bargiacchi S, Palazzo V, Landini S, Marziali E, Caputo R, Tinelli F, Marchi V, Benedetto A, Pagliazzi A, Bacci GM.   +11 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

Oculocutaneous albinism and bleeding diathesis due to a novel deletion in the HPS3 gene. [PDF]

Front Genet, 2022
Marek-Yagel D, Abudi-Sinreich S, Macarov M, Veber A, Shalva N, Philosoph AM, Pode-Shakked B, Malicdan MCV, Anikster Y.   +8 more
europepmc   +1 more source

P617: Automated functional assessments of OCA2 variant pathogenicity in individuals with oculocutaneous albinism [PDF]

Madeleine Ames, M. Gillis, Stephen Wincovitch, Heidi Dorward, Stacie Anderson, Martha Kirby, William Oetting, William Gahl, David Adams, K. Loftus Stacie   +9 more
openalex   +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