Results 101 to 110 of about 7,578 (154)

Clinical Manifestations and Genetic Spectrum of Oculocutaneous Albinism Type 2 in Chinese Patients. [PDF]

Genes (Basel)
Chen C, Li J, Wang B, Liu J, Yu X.
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

Clusters of oculocutaneous albinism in isolated populations in Brazil: A community genetics challenge. [PDF]

Genet Mol Biol, 2023
Moura P, Cardoso-Dos-Santos AC, Schuler-Faccini L.   +2 more
europepmc   +1 more source

A rescue assay for genetic diagnosis of oculocutaneous albinism using melanocytic MNT1 knock-out cells. [PDF]

Front Genet
Mercier E, Michaud V, Sequeira A, Arveiler B, Javerzat S.   +4 more
europepmc   +1 more source

Quantifying functional vision in a mouse model of oculocutaneous albinism type 1. [PDF]

Sci Rep
Kriebel WG, Larimer-Picciani AM, Nukala M, Sahel JA, Byrne LC.   +4 more
europepmc   +1 more source

Mild Oculocutaneous Albinism Type 1B With Subtle Cutaneous Findings: A Dermatology-Oriented Case Report. [PDF]

Cureus
Montané C, Guarda D, Marquez P, Bascuñan G.   +3 more
europepmc   +1 more source

Sentinel Nystagmus: The Key to Identifying Type II Oculocutaneous Albinism (OCA2) in the Pediatric Setting. [PDF]

Case Rep Pediatr
Niknam J, Petrosyan A, Agustin V, Shoubaki A.   +3 more
europepmc   +1 more source

Oculocutaneous albinism variants in 28 consanguineous families and functional classification of a pathogenic deep intron variant in TYR. [PDF]

Eur J Hum Genet
Farooq M, Bruun GH, Sarusie MVK, Kessel L, Akhtar H, Abdullah U, Ali Z, Shah SA, Ali N, Anjum I, Doktor TK, Andresen BS, Baig SM, Larsen LA, Grønskov K.   +14 more
europepmc   +1 more source

Black Piedra in an Amerindian Girl with Oculocutaneous Albinism Type 2. [PDF]

Dermatol Pract Concept, 2023
Piquero-Casals J, Sesto-Casals D, Savino-Asprino JS, Rozas-Muñoz E, Mir-Bonafé JF, Morgado-Carrasco D.   +5 more
europepmc   +1 more source

Cataract surgery with implantation of small aperture acrylic hydrophobic IOL to reduce photophobia in a patient affected by oculocutaneous albinism. [PDF]

Am J Ophthalmol Case Rep
Mularoni A, Mularoni K, Gaudenzi D, Mussoni G, Ravagli V, Gaudenzi F, Forlini M, Mautone L.   +7 more
europepmc   +1 more source