Results 51 to 60 of about 82,030 (241)

De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa. [PDF]

, 2016
BackgroundRetinitis pigmentosa is a phenotype with diverse genetic causes. Due to this genetic heterogeneity, genome-wide identification and analysis of protein-altering DNA variants by exome sequencing is a powerful tool for novel variant and disease ...
Abelazeem, Amira A, Bowne, Sara J, Clark, Michael J, Daiger, Stephen P, Garcia, Sarah, Gorin, Michael B, Martinez, Ariadna, Matynia, Anna, Parikh, Sachin, Strom, Samuel P, Sullivan, Lori S   +10 more
core   +7 more sources

New and emerging technologies for the treatment of inherited retinal diseases: a horizon scanning review. [PDF]

, 2015
The horizon scanning review aimed to identify new and emerging technologies in development that have the potential to slow or stop disease progression and/or reverse sight loss in people with inherited retinal diseases (IRDs).
Michaelides, M, Moore, AT, Simpson, S, Smith, J, Ward, D   +4 more
core  

Genome Sequencing in 19 Families With Bladder Exstrophy and Epispadias Complex Indicates Involvement of the ADGR‐Gene Family

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Bladder exstrophy and epispadias complex (BEEC) is one of the most severe congenital malformations of the urogenital tract, significantly impacting continence, sexual function, and renal function. To date, the only recurrent genetic aberration identified is the 22q.11.2 microduplication, but several candidate regions and genes including ...
Agneta Nordenskjöld, Samara Alm, Jesper Eisfeldt, Jia Cao, Magnus Anderberg, Gillian Barker, Hans Matsson, Gundela Holmdahl, Anna Lindstrand, Kristina Lagerstedt‐Robinson   +9 more
wiley   +1 more source

Atypical Manifestations of Cat-Scratch Disease, United States, 2005–2014

Emerging Infectious Diseases, 2020
Atypical manifestations that can be severe and difficult to diagnosis develop in 5%–20% of patients with cat-scratch disease. To clarify the epidemiology of atypical cat-scratch disease in the United States, we analyzed data from the 2005–2014 MarketScan
Courtney C. Nawrocki, Ryan J. Max, Natalie S. Marzec, Christina A. Nelson   +3 more
doaj   +1 more source

Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy [PDF]

, 2014
Exome sequencing revealed a homozygous missense mutation (c.317C>G [p.Arg106Pro]) in POC1B, encoding POC1 centriolar protein B, in three siblings with autosomal-recessive cone dystrophy or cone-rod dystrophy and compound-heterozygous POC1B mutations (c ...
Arts, Heleen H, Coppieters, Frauke, Cremers, Frans PM, De Baere, Elfride, de Vrieze, Erik, den Hollander, Anneke I, Hetterschijt, Lisette, Hoyng, Carel B, Kremer, Hannie, Lambertus, Stanley, Lamers, Ideke JC, Letteboer, Stef JF, Peters, Theo A, POC1B Study Group, the, Roepman, Ronald, Roosing, Susanne, van den Born, L Ingeborgh, van Wijk, Erwin   +17 more
core   +2 more sources

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

Deep Learning Integration in Optical Microscopy: Advancements and Applications

Microscopy Research and Technique, EarlyView.
It explores the integration of DL into optical microscopy, focusing on key applications including image classification, segmentation, and computational reconstruction. ABSTRACT Optical microscopy is a cornerstone imaging technique in biomedical research, enabling visualization of subcellular structures beyond the resolution limit of the human eye ...
Pottumarthy Venkata Lahari, Sagnika Dutta, H. Deeksha, Samreen A. Patel, Budheswar Dehury, Nirmal Mazumder   +5 more
wiley   +1 more source

Manifestations of systemic disease in the retina and fundus of cats and dogs

Frontiers in Veterinary Science
The fundus is unique in that it is the only part of the body that allows for a noninvasive and uninterrupted view of vasculature and nervous tissue.
Billie Beckwith-Cohen, Simon M. Petersen-Jones   +1 more
doaj   +1 more source

Retinal remodeling

Japanese Journal of Ophthalmology, 2012
Retinal photoreceptor degeneration takes many forms. Mutations in rhodopsin genes or disorders of the retinal pigment epithelium, defects in the adenosine triphosphate binding cassette transporter, ABCR gene defects, receptor tyrosine kinase defects, ciliopathies and transport defects, defects in both transducin and arrestin, defects in rod cyclic ...
B W, Jones, M, Kondo, H, Terasaki, Y, Lin, M, McCall, R E, Marc   +5 more
openaire   +3 more sources

Relationship Between Foveal Cone Structure and Visual Acuity Measured With Adaptive Optics Scanning Laser Ophthalmoscopy in Retinal Degeneration. [PDF]

, 2018
PurposeTo evaluate foveal function in patients with inherited retinal degenerations (IRD) by measuring visual acuity (VA) after correction of higher-order aberrations.MethodsAdaptive optics scanning laser ophthalmoscopy (AOSLO) was used to image cones in
Duncan, Jacque L, Foote, Katharina G, Griffin, Shane, Loumou, Panagiota, Porco, Travis C, Qin, Jia, Ratnam, Kavitha, Roorda, Austin   +7 more
core