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Journal of the European Academy of Dermatology and Venereology, 2003
ABSTRACTOculocutaneous albinism represents a group of inherited skin disorders characterized by a generalized reduction of cutaneous, ocular and pilar pigmentation from the time of birth. Oculocutaneous albinism types 1 and 2 are the most common, but several other types have been described.
J F, Okulicz +3 more
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ABSTRACTOculocutaneous albinism represents a group of inherited skin disorders characterized by a generalized reduction of cutaneous, ocular and pilar pigmentation from the time of birth. Oculocutaneous albinism types 1 and 2 are the most common, but several other types have been described.
J F, Okulicz +3 more
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Ophthalmologica, 1979
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-cutaneous albinism, Chediak-Higashi syndrome, Cross syndrome, Bergsma's albinism).
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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-cutaneous albinism, Chediak-Higashi syndrome, Cross syndrome, Bergsma's albinism).
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2012
Abstract Albinism comprises a heterogeneous group of inherited disorders characterized by the reduction or total absence of pigment from the eye, hair, and skin. All the currently known types of albinism are inherited in an autosomal recessive fashion with the exception of Nettleship-Falls ocular albinism, which is X-linked recessive ...
Reecha Sachdeva +2 more
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Abstract Albinism comprises a heterogeneous group of inherited disorders characterized by the reduction or total absence of pigment from the eye, hair, and skin. All the currently known types of albinism are inherited in an autosomal recessive fashion with the exception of Nettleship-Falls ocular albinism, which is X-linked recessive ...
Reecha Sachdeva +2 more
+5 more sources
Current Opinion in Pediatrics, 1999
Albinism was one of the first genetic diseases to be noted in humans, but until relatively recently, little was known of the molecular mechanisms involved in its pathogenesis. Recent advances have shown us that mutations in at least seven different genes can cause a reduction in melanin pigment biosynthesis, producing the various associated clinical ...
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Albinism was one of the first genetic diseases to be noted in humans, but until relatively recently, little was known of the molecular mechanisms involved in its pathogenesis. Recent advances have shown us that mutations in at least seven different genes can cause a reduction in melanin pigment biosynthesis, producing the various associated clinical ...
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The Journal of the East Africa and Uganda Natural History Society, 1919
(Uploaded by Plazi from the Biodiversity Heritage Library) No abstract provided.
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(Uploaded by Plazi from the Biodiversity Heritage Library) No abstract provided.
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Journal of ophthalmic nursing & technology, 1991
Albinism includes a group of genetic disorders with decreased pigmentation. Eye defects include foveal hypoplasia and misrouting of retinal nerve impulses. The primary concerns of those with albinism are low vision and societal misconceptions, which can also lead to social and emotional problems.
J W, Haefemeyer, J L, Knuth
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Albinism includes a group of genetic disorders with decreased pigmentation. Eye defects include foveal hypoplasia and misrouting of retinal nerve impulses. The primary concerns of those with albinism are low vision and societal misconceptions, which can also lead to social and emotional problems.
J W, Haefemeyer, J L, Knuth
openaire +1 more source