Results 121 to 130 of about 7,886 (197)

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

Novel Quantitative Metrics for Foveal Hypoplasia Derived from Optical Coherence Tomography Angiography Using AngioTool. [PDF]

J Clin Med
Egbring C, Kleemann S, Eter N, Storp JJ.
europepmc   +1 more source

Leukotrichia: A comprehensive review of follicular depigmentation. [PDF]

J Int Med Res
Iamsumang W, Kositkuljorn C, Leerunyakul K, Sakpuwadol N, Tejapira K, Suchonwanit P.   +5 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

<i>OCA2</i> common variant NM_000275.3:c.574-19A>G affects splicing and is pathogenic. [PDF]

Mol Genet Metab Rep
Diallo M, Defay-Stinat A, Plaisant C, Derrien S, Mercier E, Javerzat S, Mesdaghi S, Rigden DJ, Lasseaux E, Michaud V, Arveiler B.   +10 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

Living in the sun's shadow: Skin cancer and albinism in Senegal. [PDF]

JAAD Int
Mazzetto R, Cipriani L, Astou T, Pedrazzi T, Fortina AB, Piaserico S.   +5 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

Childhood ultraviolet exposure and skin cancer prevention: A call for change in national policy in South Africa. [PDF]

J Public Health Afr
Swart M.
europepmc   +1 more source

A look inside Chediak-Higashi syndrome: a microscopic view of the disorder. [PDF]

Pan Afr Med J
Naseri S, Shukla S.
europepmc   +1 more source