Results 11 to 20 of about 14,286 (195)

Albinism – symptomatology, aetiology, and therapy

Pediatria Polska
Albinism is a rare, genetically determined disorder of melanogenesis resulting in a reduction or complete absence of melanin in tissues of ectodermal origin, especially skin, hair, and irises of the eyes.
Beata Chałupczyńska, Elżbieta Ciara, Krystyna H. Chrzanowska, Agnieszka Madej-Pilarczyk   +3 more
doaj   +2 more sources

Oculocutaneous Albinism

JAMA Ophthalmology, 2021
Dr.
Gabriel, Bezerra Castaldelli, Ana Júlia, Bezerra Castaldelli, Volney, Anderson Castaldelli   +2 more
openaire   +3 more sources

Genetic testing for ocular albinism and oculocutaneous albinism

The EuroBiotech Journal, 2017
We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for ocular albinism and oculocutaneous albinism.
Abeshi Andi, Marinelli Carla, Beccari Tommaso, Dundar Munis, Falsini Benedetto, Bertelli Matteo   +5 more
doaj   +2 more sources

Albinism in Africa: information for children [PDF]

, 2014
This leaflet provides information on albinism for children and young ...
Lund, Patricia
core   +6 more sources

Albinism in Zambia: information for children [PDF]

, 2014
This leaflet provides information on albinism for children and young ...
Lund, Patricia
core   +6 more sources

[Albinism].

Duodecim; laaketieteellinen aikakauskirja, 1998
The term, albinism, is derived from albus, meaning white. Persons with albinism have decreased melanin pigment in their eyes. Their hair and skin are usually hypopigmented as well. Traditionally, albinism has been classified by the presence or absence of
Mark S. Borchert
openaire   +2 more sources

The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells [PDF]

, 2008
The protein product of the ocular albinism type 1 gene, named OA1, is a pigment cell-specific G protein-coupled receptor exclusively localized to intracellular organelles, namely lysosomes and melanosomes.
Bennett, DC, Venturi C, Palmigiano, A, Schiaffino, MV, Piccirillo, R, Altimare D., Rotondo G., Tacchetti, C, Marigo, V, Bagnato P., Coppola M., Rotondo, G, Venturi, C, Sviderskaya, EV, Palmisano I., Palmigiano A., Altimare D, Bagnato, P, Marigo V., Surace, EM, Altimare, D, Tacchetti C, Innamorati G., Venturi C., Surace E. M., Palmisano I, Rotondo G, INNAMORATI, Giulio, BALLABIO, ANDREA, Schiaffino M. V., Sviderskaya E. V., Palmigiano A, Innamorati G, SURACE, Enrico Maria, Sviderskaya EV, Piccirillo R, Bagnato P, Ballabio A., Incerti B, Piccirillo R., Tacchetti C., Schiaffino MV, Coppola, M, Incerti, B, Bennett DC, Incerti B., Palmisano, I, Coppola M, Bennett D. C., Innamorati, G, Ballabio, A, Marigo V   +51 more
core   +1 more source

Report on a radio drama LOVE BUILDS to educate and inform teachers and the community in Malawi about issues of albinism [PDF]

, 2014
This part of the Albinism in Malawi project aims to highlight and address the barriers to education often experienced by those with albinism. These have been identified from field work in both rural and urban areas of Malawi and are addressed in a radio ...
Dart, G., Lund, Patricia, Massah, B.
core   +6 more sources

Oculocutaneous albinism [PDF]

Orphanet Journal of Rare Diseases, 2007
Abstract Oculocutaneous albinism (OCA) is a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes. The prevalence of all forms of albinism varies considerably worldwide and has been estimated at approximately 1/17,000, suggesting that about 1 in 70 people carry a ...
Brondum-Nielsen Karen, Ek Jakob, Grønskov Karen   +2 more
openaire   +3 more sources

Real Lives: Personal and Photographic Perspectives on Albinism

, 2005
Real Lives' portrays the past and present lives of twelve people living with albinism in Great Britain and Northern Ireland. Through interviews and analysis, the authors examine the many challenges and barriers these people have faced.
Spinks, Robin Mackenzie, Roy, Archie W. N.   +1 more
core   +3 more sources