Results 71 to 80 of about 341,800 (306)

Ocular and Systemic Findings in COL2A1 and COL11A1 Stickler Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Stickler syndrome is most commonly caused by variants in COL2A1 and COL11A1 genes. The purpose of this study was to describe genetic variants and phenotypes in COL2A1 and COL11A1 Stickler syndrome. We performed a retrospective genotype–phenotype evaluation of COL2A1 and COL11A1 Stickler syndrome subjects. Thirty‐two subjects with COL2A1 and 13
Aileen G. MacLachlan, Jessica A. Kraker, Denise J. Morgan, Lisa A. Schimmenti, M. Elizabeth Hartnett, Eileen S. Hwang   +5 more
wiley   +1 more source

Retinal detachment

, 2022
The retina is the innermost layer of tissue of the posterior portion of the eye. It is composed of multiple cellular layers. The outermost layer abuts the vitreal cavity and the innermost layer, the choroid.
Czyz, Craig N, Blair, Kyle
core   +2 more sources

Two patients with Knobloch syndrome due to mutation in COL8A1 gene: case report and review of the literature

BMC Ophthalmology
Background Knobloch syndrome (KNO, OMIM # 267,750) is a rare ciliopathy group sydrome characterized by a collagen synthesis disorder. It represents an uncommon cause of pediatric retinal detachment.
Tulin Aras Ogreden, Gürkan Erdoğan
doaj   +1 more source

A rhesus macaque model of α‐dystroglycanopathy caused by a POMT1 splice altering variant

Animal Models and Experimental Medicine, EarlyView.
Rhesus macaques homozygous for a naturally occurring spice altering variant in the POMT1 gene develop lissencephaly, microphthalmia, and muscular contracture. The presentation models severe presentation of the human Walker‐Warburg syndrome. Abstract Background Biallelic mutations in genes associated with α‐dystroglycan glycosylation manifest in a ...
Anya Nordlund, Brian LaMendola, Nathan P. Crilly, Seth Kittle, Betsy M. Ferguson, Anne D. Lewis, Jeff Wall, Samuel M. Peterson   +7 more
wiley   +1 more source

Retinal Detachment: The Basics

, 2021
A presentation describing retinal ...
Arnav Gupta, BHSc; Rahul Sharma, MD, MPH
core  

KIF1A‐Mediated Axonal Transport of Netrin‐1 in iPSC‐Derived Human Forebrain Neurons

Cytoskeleton, EarlyView.
ABSTRACT Netrin‐1 is a secreted laminin‐like protein that functions as a guidance cue for axon pathfinding in development. Netrin‐1 also modulates synapse formation in developing neurons and long‐term potentiation in mature neurons. Netrin‐1 is expressed in human neurons; however, its intracellular distribution and trafficking have not been assessed ...
T. Y. Leung, J. Sidhu, A. Hsieh, Y. Ma, J. Liu, M. A. Silverman   +5 more
wiley   +1 more source

Retinal Detachment Surgery at Nepal Eye Hospital

Journal of Nepal Medical Association, 2009
Introduction:Retinal diseases are one of the important causes of blindness in Nepal. This study is done with objectives of fi nding the outcome of retinal detachment surgery.
O K Malla, S Shrestha, S P Shrestha, R N Byanju, D B Karki   +4 more
doaj   +1 more source

A case report of exudative retinal detachment derived from orbital cellulitis in mainland China

BMC Ophthalmology, 2020
Background Orbital cellulitis is a rare cause of exudative retinal detachment. Hereby, we aimed to report the first case of exudative retinal detachment derived from orbital cellulitis in mainland China.
Wei Song, Cheng Du, Yongjie Zhang
doaj   +1 more source

Localised Retinal Detachment

, 2013
Localised Retinal ...
Sue Lightman (4941), William Lynn (4940)
core   +1 more source

The association between neural crest‐derived glia and melanocyte lineages throughout development and disease

Developmental Dynamics, EarlyView.
Abstract Neural crest cells are a transient cell population that emerges from the dorsal neural tube during neurulation and migrates extensively throughout the embryo. Among their diverse derivatives, glial cells (such as Schwann and satellite ganglionic cells) and melanocytes represent two major lineages. In vitro studies suggested they share a common
Chaya Kalcheim
wiley   +1 more source