نتایج جستجو برای: oca1a albinism

تعداد نتایج: 7091  

Journal: :international journal of molecular and cellular medicine 0
soudeh ghafouri-fard department of medical genetics, faculty of medicine, shahid beheshti university of medical sciences, tehran, iran.سازمان اصلی تایید شده: دانشگاه علوم پزشکی شهید بهشتی (shahid beheshti university of medical sciences) feyzollah hashemi-gorji genomic research center, shahid beheshti university of medical sciences, tehran, iran.سازمان اصلی تایید شده: دانشگاه علوم پزشکی شهید بهشتی (shahid beheshti university of medical sciences) vahid reza yassaee genomic research center, shahid beheshti university of medical sciences, tehran, iran.سازمان اصلی تایید شده: دانشگاه علوم پزشکی شهید بهشتی (shahid beheshti university of medical sciences) nasrin alipour genomic research center, shahid beheshti university of medical sciences, tehran, iran.سازمان اصلی تایید شده: دانشگاه علوم پزشکی شهید بهشتی (shahid beheshti university of medical sciences) mohammad miryounesi genomic research center, shahid beheshti university of medical sciences, tehran, iran.سازمان اصلی تایید شده: دانشگاه علوم پزشکی شهید بهشتی (shahid beheshti university of medical sciences)

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Journal: :Journal of Medical Case Reports 2008
Muideen O Bakare Nkeiruka N Ikegwuonu

INTRODUCTION Hypomelanotic skin disorders like tuberous sclerosis and hypomelanosis of Ito that present with multiple systemic manifestations have been reported in association with childhood autism. Oculocutaneous albinism is another hypomelanotic skin disorder that rarely presents with multiple systemic manifestations. It is infrequently reported in association with childhood autism when compa...

Journal: :Journal of biomedical research & environmental sciences 2022

Albinism in plants is characterized by partial or complete loss of chlorophyll pigments and incomplete differentiation chloroplast membranes. This a very common problem encountered interspecific crosses tissue culture experiments including anther generation doubled haploids. impairs photosynthesis the eventually die at young stage without reaching maturity. Environmental conditions such as ligh...

Journal: :East African medical journal 2012
J G R Kromberg J Bothwell S H Kidson P Manga R Kerr T Jenkins

BACKGROUND Oculocutaneous albinism (OCA) is the most common inherited disorder in Southern African blacks and several types have been described. Molecular techniques, where available, can be used to confirm a clinical diagnosis and the type of OCA, if necessary, and for prenatal diagnosis. OBJECTIVES To investigate and classify the different types of albinism commonly found and to determine t...

Journal: :The British journal of ophthalmology 1956
V OHRT

OCULAR albinism is a form of incomplete albinism in which the lack of pigment is chiefly confined to the eyes. The condition is relatively rare, but since it was described for the first time by Nettleship (1909), it has occasionally been demonstrated in various families. Nettleship was aware that the disease-producing gene was sex-linked, but assumed it to be recessive; recent investigations ha...

Journal: :Pigment cell & melanoma research 2014
Lluís Montoliu Karen Grønskov Ai-Hua Wei Mónica Martínez-García Almudena Fernández Benoît Arveiler Fanny Morice-Picard Saima Riazuddin Tamio Suzuki Zubair M Ahmed Thomas Rosenberg Wei Li

Albinism is a rare genetic condition globally characterized by a number of specific deficits in the visual system, resulting in poor vision, in association with a variable hypopigmentation phenotype. This lack or reduction in pigment might affect the eyes, skin, and hair (oculocutaneous albinism, OCA), or only the eyes (ocular albinism, OA). In addition, there are several syndromic forms of alb...

Journal: :Journal of medical genetics 1989
C E Wallis P H Beighton

A Chinese girl with oculocutaneous albinism has the Prader-Willi syndrome and a normal karyotype. This association emphasises the importance of further molecular study of the 15(q12) region of the genome in the search for the locus of an albinism gene.

Journal: :Journal of visualized experiments : JoVE 2016
Anahit Grigorian Larissa McKetton Keith A Schneider

In albinism, the number of ipsilaterally projecting retinal ganglion cells (RGCs) is significantly reduced. The retina and optic chiasm have been proposed as candidate sites for misrouting. Since a correlation between the number of lateral geniculate nucleus (LGN) relay neurons and LGN size has been shown, and based on previously reported reductions in LGN volumes in human albinism, we suggest ...

2005
VAGN OHRT

OCULAR albinism is a form of incomplete albinism in which the lack of pigment is chiefly confined to the eyes. The condition is relatively rare, but since it was described for the first time by Nettleship (1909), it has occasionally been demonstrated in various families. Nettleship was aware that the disease-producing gene was sex-linked, but assumed it to be recessive; recent investigations ha...

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