Results 181 to 190 of about 21,367 (237)
Vesicular Transport Mediated by Endoplasmic Reticulum Stress Sensor BBF2H7 Orchestrates Melanin Production During Melanogenesis. [PDF]
Int J Mol SciPhan GH, Fujise K, Imaizumi K, Saito A.
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Genetic Diagnosis of Oculocutaneous Albinism Type 1A: A Novel <i>TYR</i> Variant. [PDF]
Clin Case RepShihab RN +5 more
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Case Report: Late-onset primary hemophagocytic lymphohistiocytosis leading to the diagnosis of Griscelli syndrome type 2 in a young woman with phenotypically inapparent partial albinism. [PDF]
Front ImmunolRausch J +18 more
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Neural contrast sensitivity is not affected by myopic blur. [PDF]
Sci RepDomdei N +6 more
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Griscelli Syndrome: A Case Report from Pakistan, A Review of the Literature, and an Approach to Hematological Disorders Associated With Albinism. [PDF]
CureusAfzal M +6 more
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Survey of Ophthalmology, 1985
Albinism is the term applied to a heterogeneous group of genetically determined disorders characterized by hypopigmentation and affecting the eyes. After describing the clinical features of albinism in general, the authors discuss the various forms of oculocutaneous albinism, ocular albinism, and albinoidism that are of interest to the ophthalmologist.
P E, Kinnear, B, Jay, C J, Witkop
exaly +3 more sources
Albinism is the term applied to a heterogeneous group of genetically determined disorders characterized by hypopigmentation and affecting the eyes. After describing the clinical features of albinism in general, the authors discuss the various forms of oculocutaneous albinism, ocular albinism, and albinoidism that are of interest to the ophthalmologist.
P E, Kinnear, B, Jay, C J, Witkop
exaly +3 more sources
Ophthalmology Clinics of North America, 2001
Albinism is a heterogeneous group of conditions having in common a hereditary error of melanin metabolism resulting in misrouting of optic nerve fibers during embryogenesis, underdevelopment of the neuroretinas, and in varying degrees of hypopigmentation of eyes, skin, and hair.
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Albinism is a heterogeneous group of conditions having in common a hereditary error of melanin metabolism resulting in misrouting of optic nerve fibers during embryogenesis, underdevelopment of the neuroretinas, and in varying degrees of hypopigmentation of eyes, skin, and hair.
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Dermatologic Clinics, 1988
Genetic abnormalities of the melanin pigment system in which the synthesis of melanin is reduced or absent are called albinism. The reduction in melanin synthesis can involve the skin, hair follicle, and eye, resulting in oculocutaneous albinism, or can be localized primarily to the eye, resulting in ocular albinism.
R A, King, C G, Summers
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Genetic abnormalities of the melanin pigment system in which the synthesis of melanin is reduced or absent are called albinism. The reduction in melanin synthesis can involve the skin, hair follicle, and eye, resulting in oculocutaneous albinism, or can be localized primarily to the eye, resulting in ocular albinism.
R A, King, C G, Summers
openaire +2 more sources