Childhood autism in a 13 year old boy with oculocutaneous albinism: a case report
Journal of Medical Case Reports, 2008 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.
Bakare Muideen O, Ikegwuonu Nkeiruka N
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Frontiers in Pigment Cell and Melanoma Research
, 2018 We identify emerging frontiers in clinical and basic research of melanocyte biology and its associated biomedical disciplines. We describe challenges and opportunities in clinical and basic research of normal and diseased melanocytes that impact current ...
Birlea, Stanca +26 more
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Assessing the Spatial Relationship Between Fixation and Foveal Specializations [PDF]
, 2016 Increased cone photoreceptor density, an avascular zone (FAZ), and the displacement of inner retinal neurons to form a pit are distinct features of the human fovea.
Carroll, Joseph +5 more
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The Impact of WhatsApp as a Health Education Tool in Albinism: Interventional Study
JMIR Dermatology, 2023 BackgroundOculocutaneous albinism is a congenital disorder that causes hypopigmentation of the skin, hair, and eyes due to a lack of melanin.
Chetanna Chioma Anaje +5 more
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Uniplanar nystagmus associated with perceptual and cognitive visual dysfunction due to presumed focal ischemic occipital cortical atrophy: a missed diagnosis and new observation [PDF]
, 2012 Uniplanar nystagmus has been described in relation to pathology of the brain stem, retina, optic nerve, sensory visual deprivation, periventricular leucomalacia, and drug toxicity.
Dorris, Liam +2 more
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Programmable base editing of zebrafish genome using a modified CRISPR-Cas9 system. [PDF]
, 2017 Precise genetic modifications in model animals are essential for biomedical research. Here, we report a programmable "base editing" system to induce precise base conversion with high efficiency in zebrafish. Using cytidine deaminase fused to Cas9 nickase,
Bai, Haipeng +7 more
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Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Cognitive decline is a disabling and variable feature of Parkinson disease (PD). While cholinergic system degeneration is linked to cognitive impairments in PD, most prior research reported cross‐sectional associations. We aimed to fill this gap by investigating whether baseline regional cerebral vesicular acetylcholine transporter ...
Taylor Brown +6 more
wiley +1 more source
Genome-wide screening of mouse knockouts reveals novel genes required for normal integumentary and oculocutaneous structure and function. [PDF]
, 2019 Oculocutaneous syndromes are often due to mutations in single genes. In some cases, mouse models for these diseases exist in spontaneously occurring mutations, or in mice resulting from forward mutatagenesis screens.
Adissu, Hibret +15 more
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Sol–Gel Derived Polymer Precursors for Stereolithography of ZrC
Advanced Engineering Materials, EarlyView.ZrC is a critical material target for extreme temperature conditions. This report describes a protocol for preparing ZrC ceramics via stereolithography and examines the impact of the polymer matrix on carbothermal reduction and mechanical stability of 3D printed ZrC.
Charles J. Rafalko +2 more
wiley +1 more source
Understanding pseudo-albinism in sole (Solea senegalensis): a transcriptomics and metagenomics approach [PDF]
, 2019 Pseudo-albinism is a pigmentation disorder observed in flatfish aquaculture with a complex, multi-factor aetiology. We tested the hypothesis that pigmentation abnormalities are an overt signal of more generalised modifications in tissue structure and ...
Carballo, Carlos +7 more
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