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Autosomal recessive ocular albinism

National Institutes of Health

Papers overview

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2012
2012
Molecular basis of albinism in India: evaluation of seven potential candidate genes and some new findings.
Albinism represents a group of genetic disorders with a broad spectrum of hypopigmentary phenotypes dependent on the genetic… 
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Highly Cited
2009
Highly Cited
2009
Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism.
PURPOSE The study was initiated to investigate the mutation spectrum of four OCA genes and to calculate the birth prevalence in… 
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2009
2009
Oculocutaneous albinism spectrum
Oculocutaneous albinism (OCA) types 1, 2, 3, and 4 (OMIM 203100, 203200, 203290, 611409) are characterized as hypopigmentation of… 
Highly Cited
2008
Highly Cited
2008
A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients.
PURPOSE Autosomal recessive ocular albinism (AROA) is a group of genetic disorders in which reduced pigmentation of the eye is… 
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2008
2008
A new hypothesis of OCA1B
Pigmentation is a polygenic trait determined primarily by the amount and type of pigments [Yamaguchi et al., 2007]. The spectrum… 
Highly Cited
1997
Highly Cited
1997
Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA).
Waardenburg syndrome (WS) is a clinically and genetically heterogeneous disease accounting for >2% of the congenitally deaf… 
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Highly Cited
1995
Highly Cited
1995
Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism
Autosomal recessive ocular albinism (AROA) is a disorder characterized by reduced pigmentation of the retina and iris… 
1987
1987
Albinism, or the NOACH syndrome (the book of Enoch c.v. 1-20).
UNLABELLED After a 4-year multidisciplinary study of albinism our findings will be presented here. Over a hundred albinos were… 
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