Results 171 to 180 of about 6,439 (248)

Oculocutaneous albinism in southern Africa: Historical background, genetic, clinical and psychosocial issues. [PDF]

Afr J Disabil, 2022
Kromberg JGR, Kerr R.
europepmc   +1 more source

Identification of two novel mutations in the gene in a Hungarian pedigree affected by unusual OCA type 4 [PDF]

core   +1 more source

Complicated Crohn's-like colitis, associated with Hermansky-Pudlak syndrome, treated with Infliximab: a case report and brief review of the literature [PDF]

, 2007
George Kouklakis, Eleni I Efremidou, Michael S Papageorgiou, Evdoxia Pavlidou, Konstantinos J Manolas, Nikolaos Liratzopoulos, RA Schinella, Y Erzin, D Hazzan, AL Grucela, A De Leusse, CJ Witkop, CJ Witkop, A Sherman, N Hussain, WC Lim   +15 more
core   +1 more source

Molecular and Functional Studies of Tyrosinase Variants Among Indian Oculocutaneous Albinism Type 1 Patients [PDF]

, 2010
Moumita Chaki, Mainak Sengupta, Maitreyee Mondal, Abhisek Bhattacharya, Shampa Mallick, Ranjan Bhadra, Kunal Ray   +6 more
openalex   +1 more source

Investigation of albinism genes in congenital esotropia [PDF]

, 2003
Barbour, Julie M, Burdon, Kathryn Penelope, Dickinson, Joanne L, Mackey, David A, Sale, Michele M, Stankovich, Jim M, Wilkinson, Robin M   +6 more
core  

Dynamic analysis of human tyrosinase intra-melanosomal domain and mutant variants to further understand oculocutaneous albinism type 1

, 2018
S. Katie Farney, Monika B. Dolinska, Yuri V. Sergeev   +2 more
openalex   +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

OCA2 splice site variant in German Spitz dogs with oculocutaneous albinism

, 2017
Madleina Caduff, Anina Bauer, Vidhya Jagannathan, Tosso Leeb   +3 more
openalex   +1 more source