Results 141 to 150 of about 2,460,078 (269)
Editorial: Global perspectives on genetic diagnosis and treatments for inherited retinal diseases. [PDF]
Front Ophthalmol (Lausanne)Murakami Y +3 more
europepmc +1 more source
TTC21B: From Modifier to Causative Gene in Joubert Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Biallelic pathogenic variants in TTC21B, encoding the retrograde intraflagellar transport protein IFT139, are a known cause of renal and skeletal ciliopathies. Single heterozygous variants in this gene were found to be enriched in a cohort of patients with various ciliopathy phenotypes, including three individuals with Joubert syndrome (JS), a
Valentina Serpieri +5 more
wiley +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 +4 more
wiley +1 more source
The Genetic Landscape of Inherited Retinal Diseases in the Israeli Population. [PDF]
Invest Ophthalmol Vis SciShalom S +17 more
europepmc +1 more source
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 +8 more
wiley +1 more source
Inherited Retinal Disease Panels—Caveat Emptor—Truly Know Your Inherited Retinal Disease Panel
Retina, 2022 Jose S. Pulido +11 more
openaire +3 more sources
Classification of Inherited Retinal Diseases Using Artificial Intelligence Models for Fundus Autofluorescence and Ultrawide Retinal Images. [PDF]
J OphthalmolTrinh H +6 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 +7 more
wiley +1 more source
Retinectomy, essential for treating complex rhegmatogenous retinal detachment, significantly risks retinal displacement, detectable through fundus autofluorescence.
Shaheen, Abdulla +7 more
core +1 more source