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ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)

Known as: YELLOW ALBINISM, ALBINISM, OCULOCUTANEOUS, TYPE IB, ALBINISM, YELLOW MUTANT TYPE 
National Institutes of Health

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Broader (1)

Albinism, Oculocutaneous

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2014
Review
2014
Increasing the complexity: new genes and new types of albinism
Albinism is a rare genetic condition globally characterized by a number of specific deficits in the visual system, resulting in… 
Highly Cited
2013
Highly Cited
2013
The genome sequencing of an albino Western lowland gorilla reveals inbreeding in the wild
BackgroundThe only known albino gorilla, named Snowflake, was a male wild born individual from Equatorial Guinea who lived at the… 
2011
2011
Refractive profile in oculocutaneous albinism and its correlation with final visual outcome
Purpose To evaluate the prevalence of refractive errors in different subtypes of oculocutaneous albinism, and to see if there is… 
Highly Cited
2011
Highly Cited
2011
Identification of an animal sucrose transporter
According to a classic tenet, sugar transport across animal membranes is restricted to monosaccharides. Here, we present the… 
Review
2005
Review
2005
Oculocutaneous albinism in southern Africa: Population structure, health and genetic care
Background: People with oculocutaneous albinism (OCA) have reduced levels of melanin in their hair, skin and eyes, with… 
Highly Cited
2004
Highly Cited
2004
Regulation of Tyrosinase Processing and Trafficking by Organellar pH and by Proteasome Activity*
Pigmentation of the hair, skin, and eyes of mammals results from a number of melanocyte-specific proteins that are required for… 
Review
2003
Review
2003
Oculocutaneous albinism type 1: the last 100 years.
Research on human albinism has been central to many of the major discoveries in human genetics. These include the first evidence… 
Review
2003
Review
2003
Syndromic albinism: a review of genetics and phenotypes.
There are several syndromes of albinism associated with systemic pathology. These include Chediak-Higashi Syndrome (CHS… 
Highly Cited
2002
Highly Cited
2002
Foveal hypoplasia in oculocutaneous albinism demonstrated by optical coherence tomography.
Highly Cited
1995
Highly Cited
1995
Insertion of a novel transposable element in the tyrosinase gene is responsible for an albino mutation in the medaka fish, Oryzias latipes
In the medaka fish (Oryzias latipes) many mutants for body color have been isolated. A typical example is the recessive… 
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