نتایج جستجو برای: oca1a albinism

تعداد نتایج: 7091  

Journal: :Klinische Monatsblatter fur Augenheilkunde 2001
B Török

BACKGROUND In albinism the majority of the nerve fibers of the optic nerve originating from an eye are innervating the contralateral hemisphere. As a result of the predominantly monocular innervation of the left and right hemispheres, the unilateral activation of the visual cortex (lateralization) can be detected with visual evoked potentials (VEP). PATIENTS AND METHODS The VEPs were elicited...

Journal: :Investigative ophthalmology & visual science 2005
Michael B Hoffmann Birgit Lorenz Antony B Morland Linda C Schmidtborn

PURPOSE In human albinism a part of the temporal retina projects abnormally to the contralateral hemisphere. An objective VEP procedure to quantify the extent of the abnormality was devised. METHODS Monocular VEPs were recorded in 16 subjects with albinism and in 16 controls from occipital electrodes to pattern-onset stimulation in 1 of 10 adjacent rectangular apertures along the horizontal m...

2015
Ondřej Slavík Pavel Horký Matúš Maciak William HJ Norton

Physiological and behavioural constraints hinder albino individuals. Albino animals are rare in the wild; this trait is associated with easy detection by predators, non-native or damaged environments, and exclusively aphotic environments in total darkness. The social aspect of albinism is reported only for human beings, and the effect is distinguishable in time and space when social benefits, a...

پایان نامه :وزارت علوم، تحقیقات و فناوری - دانشگاه اصفهان - دانشکده علوم 1392

بیماری زالی چشمی- پوستی (oca،oculocutaneous albinism)، گروهی از بیماری های اتوزومی مغلوب است که منجر به کمبود یا فقدان تولید ملانین در ملانوسیت ها می شود. طیف بالینی oca متنوع است که شامل oca1a با شدیدترین نوع و فقدان کامل تولید ملانین در طول عمر فرد و اشکال ملایم تر آن شامل oca1b، oca2، oca3 و oca4 می شود. زالی چشمی –پوستی نوع1 (oca1) یک بیماری اوتوزومی مغلوب است که در اثر جهش در ژن تیروزیناز(...

Journal: :Annals of burns and fire disasters 2010
A Valente E Caleffi

Oculocutaneous albinism is an autosomal recessive disorder. It is associated with a disorder in the synthesis of melanin pigment, clearly manifested by the absence of colour in the skin, iris, and hair. In addition to its importance for a person's physical appearance, melanin plays a protective role with regard to solar radiation: its absence exposes the skin to a greater risk of related photog...

Journal: :Japanese Journal of Medical Science and Biology 1964

Journal: :Oman Journal of Ophthalmology 2009

Journal: :American Journal of Physical Anthropology 2005

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