Results 91 to 100 of about 14,286 (195)

Psychosocial Experiences and Support Resources of People With Albinism: A Thematic Synthesis [PDF]

Journal of Rehabilitation
Objective Albinism is a genetic disease that causes vision limitations and skin and hair problems as a result of a disorder in melanin conversion. This disease can have wide psychosocial consequences among the sufferers.
Taher Alizadeh, Bahman Bahmani, Mohammadsaeed khanjani, Manouchehr Azkhosh, Shima Shakiba, Mohsen Vahedi   +5 more
doaj  

Refractive development in albinism

, 2012
Albinism is an uncommon genetic condition characterised by hypopigmentation of the hair, skin and eyes; and is associated with reduced vision, nystagmus and high refractive errors.
Healey, Natasha
core  

Albinism [PDF]

, 2020
Mohsin H. Ali, Lejla Vajzovic
  +4 more sources

An experimental study on the partial albinism in Himalayan rabbits.

, 1925
AN EXPERIMENTAL STUDY ON THE PARTIAL ALBINISM IN HIMALAYAN RABBITS. An experimental study on the partial albinism in Himalayan rabbits. (vol. I) (-
Kaufman, L.
core   +1 more source

Optic Disc Morphology in Albinism

, 1994
Albinism refers to a group of genetically - determined disorders characterized by deficient melanin production and congenital hypopigmentation. Recognized ocular manifestations of albinism include nystagmus, iris transillumination, and macular hypoplasia.
Martha P. Schatz; Stephen C. Pollack
core  

A novel TYR variant implicated in oculocutaneous albinism type 1 (OCA1): a study in an indigenous population in Southern Brazil. [PDF]

J Community Genet
Corecco-Moura P, Cardoso-Júnior LM, Artigalás OAP, Vianna FSL, Junges APP, Bonamigo RR, Sales CR, Tejada GL, Gus PI, da Silva Kaingang L, Ribeiro LM, Sales DFC, Kaingang DS, Ornaghi AP, Beltrame MH, Schüler-Faccini L.   +15 more
europepmc   +1 more source

Evaluating the Role of MC1R Variants in Cutaneous and Ocular Phenotypes: A Candidate TYR-MC1R Genetic Interaction in Oculocutaneous Disorders. [PDF]

Genes (Basel)
Di Iorio E, Parmeggiani F, De Nardi A, Prevedello F, Affuso R, Demarinis A, Gazzin A, Rigon C, Barbaro V, De Nadai K, Cartabellotta A, Adamo GG, Mura M, Suppiej A, Palù G, Salviati L, Tavolato M.   +16 more
europepmc   +1 more source

Early Genotype-Driven Diagnosis of Hermansky-Pudlak Syndrome Type 4 in a Child With Oculocutaneous Albinism: An Ophthalmic Case Report. [PDF]

Cureus
Szabo D, Waldispühl-Geigl J, Kamper S, Pilch H, Plecko B, Vollnhofer K, Posch-Pertl L.   +6 more
europepmc   +1 more source

Ocular Phenotypes and Novel <i>SLC45A2</i> Variants in Patients with Oculocutaneous Albinism Type 4. [PDF]

Genes (Basel)
Chen C, Wang B, Zheng Y, Liu J, Yu X.
europepmc   +1 more source

Molecular Diagnostic Yield and Genotype-Phenotype Spectrum of Inherited Eye Diseases in a Tertiary Health Center in Türkiye. [PDF]

Beyoglu Eye J
Çevik MÖ.
europepmc   +1 more source