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Page 1
Albinism.
François J. François J. Ophthalmologica. 1979;178(1-2):19-31. doi: 10.1159/000308802. Ophthalmologica. 1979. PMID: 108645 Review.
There are seven forms of oculo-cutaneous albinism, which are all autosomal recessive: three are tyrosinase-negative (complete oculo-cutaneous albinism, Amish albinism, Hermansky-Pudlak syndrome) and four are tyrosinase-positive (incomplete oculo …
There are seven forms of oculo-cutaneous albinism, which are all autosomal recessive: three are tyrosinase-negative (co …
Tyrosinase gene mutations causing oculocutaneous albinisms.
Tomita Y. Tomita Y. J Invest Dermatol. 1993 Feb;100(2 Suppl):186S-190S. J Invest Dermatol. 1993. PMID: 8433007 Free article. Review.
Since the first report of a mutation in the tyrosinase gene that causes tyrosinase-negative oculocutaneous albinism (OCA), more than 25 alleles with a different mutation in patients with three types of OCA, i.e., tyrosinase-negative OCA ( …
Since the first report of a mutation in the tyrosinase gene that causes tyrosinase-negative oculocutaneous albinism …
Comparative genetics of albinism.
Searle AG. Searle AG. Ophthalmic Paediatr Genet. 1990 Sep;11(3):159-64. doi: 10.3109/13816819009020974. Ophthalmic Paediatr Genet. 1990. PMID: 2126367 Review.
Albinism in laboratory mammals is equivalent to human tyrosinase-negative oculocutaneous albinism, and thus the result of recessive mutation in the structural locus for tyrosinase (TYR), which prevents melanin biosynthesis. ...
Albinism in laboratory mammals is equivalent to human tyrosinase-negative oculocutaneous albinism, and th …
The molecular genetics of albinism and piebaldism.
Tomita Y. Tomita Y. Arch Dermatol. 1994 Mar;130(3):355-8. Arch Dermatol. 1994. PMID: 8129415 Review.
BACKGROUND: Oculocutaneous albinism (OCA) is an autosomal-recessive genetic disorder defined by hypomelanosis in the eyes, hair, and skin. ...When a mutated tyrosinase gene produces inactive, less active, or temperature-sensitive tyrosinase, its phenotype is tyro …
BACKGROUND: Oculocutaneous albinism (OCA) is an autosomal-recessive genetic disorder defined by hypomelanosis in the eyes, hai …
Mutations of the tyrosinase gene in oculocutaneous albinism.
Shibahara S. Shibahara S. Pigment Cell Res. 1992 Nov;5(5 Pt 2):279-83. doi: 10.1111/j.1600-0749.1992.tb00550.x. Pigment Cell Res. 1992. PMID: 1292010 Review.
Since our first report showing that the phenotype of tyrosinase-negative or type IA oculocutaneous albinism (OCA) is a consequence of a mutation in the tyrosinase gene (Tomita et al., Biochem. ...
Since our first report showing that the phenotype of tyrosinase-negative or type IA oculocutaneous albinism (OCA …
Oculocutaneous albinism and analysis of tyrosinase gene in Japanese patients.
Tomita Y, Miyamura Y. Tomita Y, et al. Nagoya J Med Sci. 1998 Oct;61(3-4):97-102. Nagoya J Med Sci. 1998. PMID: 9879192 Review.
Oculocutaneous albinism (OCA) is a heterogeneous groups of autosomal-recessive genetic disorders. ...In this article, a new classification of OCA based on genetic evidence is briefly reviewed, and our study on Japanese patients with tyrosinase-negative …
Oculocutaneous albinism (OCA) is a heterogeneous groups of autosomal-recessive genetic disorders. ...In this article, a new cl …
Prenatal diagnosis of inherited skin diseases.
Shimizu H. Shimizu H. Keio J Med. 1996 Mar;45(1):28-36. doi: 10.2302/kjm.45.28. Keio J Med. 1996. PMID: 8882465 Free article. Review.
Significant advances in the prenatal diagnosis of hereditary skin disorders, including severe forms of epidermolysis bullosa (EB) and tyrosinase-negative oculocutaneous albinism (OCA1A), have been reviewed. ...
Significant advances in the prenatal diagnosis of hereditary skin disorders, including severe forms of epidermolysis bullosa (EB) and tyr …
[Human oculocutaneous albinism. From clinical observation to molecular biology].
Aquaron R. Aquaron R. Bull Soc Pathol Exot. 1993;86(5):313-26. Bull Soc Pathol Exot. 1993. PMID: 8124097 Review. French.
Human oculocutaneous albinism (OCA) is a heritable metabolic defect transmitted as an autosomal recessive trait and characterized by a hypopigmentation of skin, hair and eyes. ...Two forms of OCA have been distinguished in 1970 on the basis of their genetic, clinica …
Human oculocutaneous albinism (OCA) is a heritable metabolic defect transmitted as an autosomal recessive trait and characteri …
[Prenatal diagnosis of cutaneous genetic diseases by the study of fetal DNA].
Hovnanian A, De Prost Y. Hovnanian A, et al. Ann Dermatol Venereol. 1995;122(4):173-85. Ann Dermatol Venereol. 1995. PMID: 8526412 Review. French.
This method has already been shown to be effective in recessive dystrophic bullous epidermolysis, lethal Herlitz's junctional bullous epidermolysis, bullous ichthyosiform hereditary erythroderma, von Recklinghausen's neurofibromatosis, tyrosinase negative oculocu …
This method has already been shown to be effective in recessive dystrophic bullous epidermolysis, lethal Herlitz's junctional bullous epider …