|1.||Yahalom, Claudia: 2 articles (06/2015 - 04/2012)|
|2.||Blumenfeld, Anat: 2 articles (06/2015 - 04/2012)|
|3.||Oetting, William S: 2 articles (03/2009 - 06/2003)|
|4.||King, Richard A: 2 articles (03/2009 - 06/2003)|
|5.||Fryer, James P: 2 articles (03/2009 - 06/2003)|
|6.||Dalia, Eli: 1 article (06/2015)|
|7.||Shemesh, Efrat: 1 article (06/2015)|
|8.||Simhon, Shiran Ben: 1 article (06/2015)|
|9.||Sharon, Dror: 1 article (06/2015)|
|10.||Purohit, Rituraj: 1 article (01/2013)|
01/15/2013 - "This study provides a significant insight into the underlying molecular mechanism involved in albinism associated with OCA1A."
01/01/2012 - "OCA1A (66.7%) was the most common subtype in 21 Korean albinism patients, and 70% of patients were heterozygotes for 2 different mutational alleles. "
12/01/2000 - "Mutations of the TYR gene lead to Oculocutaneous Albinism type 1 (OCA1), the most common type of albinism in humans (OMIM accession number 203100). "
06/01/2008 - "This study was conducted to test whether such residual abnormalities can also be identified in human carriers of oculocutaneous tyrosinase-related albinism (OCA1a). "
06/01/2008 - "The absence of evidence for projection abnormalities in human OCA1a carriers contrasts with the previously reported evidence for abnormalities in cat-carriers of tyrosinase-related albinism. "
|2.||Oculocutaneous Albinism (Albinism, Yellow Mutant)
06/01/2012 - "Mutations were identified in the TYR gene as responsible for oculocutaneous albinism type 1 in five Colombian individuals, and a new ophthalmic system was tested that corrected visual defects and symptoms in a patient with oculocutaneous albinism. "
01/01/2010 - "Genetic Analysis of Oculocutaneous Albinism Type1A (OCA1A) in an Iranian Family."
06/01/2015 - "The female was previously diagnosed with oculocutaneous albinism (OCA1A) and her spouse was diagnosed with Peters anomaly. "
01/01/2012 - "Tyrosinase-negative oculocutaneous albinism (OCA1A) is characterized by lifelong white hair and skin, a phenotype that has been described in most mammalian species worldwide. "
04/01/1995 - "We describe molecular prenatal diagnosis and carrier detection of tyrosinase-negative oculocutaneous albinism (OCA1A) in two families. "
|3.||Hermanski-Pudlak Syndrome (Hermansky-Pudlak Syndrome)
03/01/2009 - "The Q402 allele has been associated with autosomal recessive ocular albinism when it is in trans with a tyrosinase gene mutation associated with oculocutaneous albinism type 1. We have identified 12 families with oculocutaneous albinism type 1 that exhibit segregation of the c.1205G > A variant with a known pathologic mutation on the homologous chromosome, and demonstrate no genetic association between autosomal recessive oculocutaneous albinism and the Q402 variant. "
06/01/2015 - "A complete ocular examination of her family members revealed that her brother also suffered from the same combined phenotype, her father had typical OCA1A signs, and her mother and sister had aniridia-like phenotype, without clinical diagnosis until the time of presentation. "
06/01/2015 - "A comprehensive clinical examination revealed that the female had OCA1A combined with signs of another ocular disease, showing some similarity to aniridia. "
|1.||Monophenol Monooxygenase (Tyrosinase)
|3.||Oculocutaneous albinism type 1
|4.||DNA (Deoxyribonucleic Acid)