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ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
Known as:
YELLOW ALBINISM
, ALBINISM, OCULOCUTANEOUS, TYPE IB
, ALBINISM, YELLOW MUTANT TYPE
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National Institutes of Health
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Albinism, Oculocutaneous
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2013
2013
Oculocutaneous Albinism Type 1
R. Lewis
2013
Corpus ID: 83086914
Clinical characteristics Oculocutaneous albinism type 1 (OCA1) is characterized by hypopigmentation of the skin and hair and the…
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2011
2011
Oculocutaneous Albinism Type 3 (OCA3): Analysis of Two Novel Mutations in TYRP1 Gene in Two Chinese Patients
Kai Zhang
,
Zhuo Li
,
+4 authors
Hong-yi Li
Cell Biochemistry and Biophysics
2011
Corpus ID: 207359705
Oculocutaneous albinism (OCA) is a genetic disease characterized by the reduction or deficiency of melanin in eyes, skin, and…
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2011
2011
Oculocutaneous albinism type 3: a Japanese girl with novel mutations in TYRP1 gene.
M. Yamada
,
K. Sakai
,
+5 authors
Tamio Suzuki
Journal of dermatological science (Amsterdam)
2011
Corpus ID: 13445159
2009
2009
Four novel mutations of TYR gene in Chinese OCA1 patients.
Yu Wang
,
Xiaoli Guo
,
Wei Li
,
S. Lian
Journal of dermatological science (Amsterdam)
2009
Corpus ID: 5188910
2005
2005
Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan
稲垣 克彦
2005
Corpus ID: 82082968
1999
1999
Oculocutaneous albinism in the i6 mutant of the medaka fish is associated with a deletion in the tyrosinase gene.
Akihiko Koga
,
Yuko Wakamatsu
,
Jin Kurosawa
,
Hiroshi Hori
Pigment Cell Research
1999
Corpus ID: 33176204
Three mutant alleles (i1, i4, and i5) of the tyrosinase gene in the i locus of the medaka fish Oryzias latipes have hitherto been…
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1992
1992
Oculocutaneous albinism: variable expressivity of nystagmus in a sibship.
Pauline Y Y Cheong
,
R. King
,
J. Bateman
Journal of pediatric ophthalmology and strabismus
1992
Corpus ID: 43035176
Traditionally, the diagnosis of ocular or oculocutaneous albinism (OCA) is based on a constellation of features including the…
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1982
1982
Oculocutaneous albinoidism as a manifestation of reduced neural crest derivatives in the Prader-Willi syndrome.
H. M. Hittner
,
Richard A. King
,
+4 authors
Frank L. Kretzer
American journal of ophthalmology-glaucoma
1982
Corpus ID: 24333563
1980
1980
Morphologic and biochemical abnormalities of kidney lysosomes in mice with an inherited albinism.
M. Meisler
,
J. Levy
,
F. Sansone
,
M. Gordon
American Journal of Pathology
1980
Corpus ID: 2102494
The light-ear mutation in the mouse may serve as a useful model for the human inherited oculocutaneous albinisms such as the…
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1977
1977
Oculocutaneous albinism associated with Apert's syndrome.
S. Margolis
,
I. Siegel
,
A. Choy
,
G. M. Breinin
American journal of ophthalmology-glaucoma
1977
Corpus ID: 10331154
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