Results 101 to 110 of about 14,286 (195)

Albinism and human rights: From marginalisation to global advocacy. [PDF]

Afr J Disabil
Deane T.
europepmc   +1 more source

Skin cancer and actinic keratosis in people with albinism: a systematic review and meta-analysis. [PDF]

An Bras Dermatol
Tranquillini F, Soares VG, Mendes BX, Krish F, Franciscatti GC, Quaresma MV.   +5 more
europepmc   +1 more source

A Recessive oca2 Mutation Underlies Albinism in Xiphophorus Fish. [PDF]

Pigment Cell Melanoma Res
Xing Y, Boswell W, Parker J, Du K, Schartl M, Lu Y.   +5 more
europepmc   +1 more source

Early Molecular Testing for Presumptive Genetic Eye Diseases. [PDF]

Genes (Basel)
Ibarra-Ramírez M, Mohamed-Noriega J, Arenas-Estala J, Rodríguez-Torres DA, Campos-Acevedo LD, Fernández-de-Luna ML.   +5 more
europepmc   +1 more source

The relationship between foveal anatomy and retinal function in oculocutaneous albinism. [PDF]

Doc Ophthalmol
Balakrishnan U, Wynne N, Pfeifer W, Woertz E, Carroll J, Drack AV.   +5 more
europepmc   +1 more source

Ocular manifestations in albinism

, 2015
Albinism is a hereditary condition characterized by hypopigmentation in the skin, eye and hair due to enzymatic defect or lack of enzymes in the melanin synthesis pathway and affects 1 in 17,000 people worldwide. Ocular manifestation such as photophobia,
Najarian, Paul
core  

Mild form of aromatic L-amino acid decarboxylase deficiency. [PDF]

BMJ Case Rep
Kenina V, Dīriks M, Pūcīte E, Mūrmane D, Lace B.   +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

Whole-genome sequencing uncovers diverse genetic causes and phenotypic signatures in infantile nystagmus and albinism. [PDF]

NPJ Genom Med
Fassad MR, Vasudevan PC, Barwell J, Maconachie G, Madhusudhan S, Hunt D, Gottlob I, Moosajee M, Mahroo OA, Webster AR, Michaelides M, Thomas MG.   +11 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