Results 181 to 190 of about 2,892,707 (247)

Detection and Management of Geographic Atrophy Secondary to Age-Related Macular Degeneration Using Noninvasive Retinal Images and Artificial Intelligence: Systematic Review. [PDF]

J Med Internet Res
Shi N, Li J, Shang M, Zhang W, Xu K, Li Y, Liang L.   +6 more
europepmc   +1 more source

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

Deep learning ocular aberration retrieval from simulated retinal images under straylight. [PDF]

Biomed Opt Express
Ntatsis K, Christaras D, Artal P, Ginis H.   +3 more
europepmc   +1 more source

A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini, Davide Mei, Mara Cavallin, Simona Fiori, Luciana Tramacere, Maria Elena Melica, Giulia Antonelli, Simona Virdò, Elena Parrini, Renzo Guerrini   +9 more
wiley   +1 more source

Efficiency and safety of automated label cleaning on multimodal retinal images. [PDF]

NPJ Digit Med
Lin T, Wang M, Lin A, Mai X, Liang H, Tham YC, Chen H.   +6 more
europepmc   +1 more source

Patient and Family Reported Clinical Picture of IRF2BPL‐Related Disorders

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT IRF2BPL‐related disorder is a neurodevelopmental disorder caused by heterozygous variants in the IRF2BPL (Interferon Regulatory Factor 2 Binding Protein‐Like) gene. The few reports available in the literature suggest that common symptoms include developmental delay, intellectual disability, and developmental regression.
Zoe Goldstone‐Joubert, Danielle M. Pascual, Laurie Anne Bailey, Loren D. M. Peña, Paul C. Marcogliese   +4 more
wiley   +1 more source

Rhenium‐Based β‐Galactosidase Probe Allows Senescence Profiling by Mass Cytometry

Angewandte Chemie, EarlyView.
Senescence‐associated β‐galactosidase (SA‐β‐Gal) activity is a widely accepted biomarker of cellular senescence, yet its integration with other senescence markers has been limited by available detection methods. Here, we introduce ReGal, a mass cytometry‐compatible SA‐β‐Gal activity probe that can be multiplexed with established markers of senescence ...
Adam Tam, Kris Elbein, Aleida G. Gonzalez, Edgar A. Arriaga, Mark Nitz   +4 more
wiley   +2 more sources

Establishment and characterization of mouse lymph node fibrosis models

Animal Models and Experimental Medicine, EarlyView.
The design of the entire paper. Schematic illustration of four strategies for establishing mouse lymph node (LN) fibrosis models. The study further compares their fibrotic remodeling patterns and immune alterations. Abstract Background Lymph node (LN) fibrosis occurs in a variety of pathological conditions, including HIV infection, obesity, cancer, and
Yaru Niu, Xu Guan, Jian Ma, Xin Zhang, Yihang Shi, Jinzhu Zhang, Leiqiong Gao, Wei Chen, Xishan Wang   +8 more
wiley   +1 more source

Author Correction: A noninvasive model for chronic kidney disease screening and common pathological type identification from retinal images. [PDF]

Nat Commun
Wu Q, Li J, Zhao L, Liu D, Wen J, Wang Y, Wang Y, Huang N, Jiang L, Liu Q, Lin H, Wan P, Yang S, Chen W, Ye H, Rashid Hassan MH, Nur AH, Dai Z, Guo J, Zhou S, Yu J, Zhang W, Chen W, Li R, Iao WC, Feng JJ, Wang Y, Hong H, Yin P, Ye Q, Xie C, Zhu M, Liu X, Kong Y, Wang J, Ma R, Xiao Y, Chen G, Fu R, Ke Y, Ling JOC, Sabanayagam C, Ting DSW, Cheng KK, Lin D, Chen W, Lin H.   +46 more
europepmc   +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