Mechanistic Insights into Axenfeld–Rieger Syndrome from Zebrafish foxc1 and pitx2 Mutants
CR French - International Journal of Molecular Sciences, 2021 - mdpi.com
Axenfeld–Rieger syndrome (ARS) encompasses a group of developmental disorders that
affect the anterior segment of the eye, as well as systemic developmental defects in some …
affect the anterior segment of the eye, as well as systemic developmental defects in some …
Genetics in primary congenital glaucoma: Implications in disease management and counseling
L Leysen, C Cassiman, S Vermeer, I Casteels… - European Journal of …, 2022 - Elsevier
Primary congenital glaucoma is an important cause of visual impairment in children. It can
develop both pre-and postnatally. Angle surgery is the first line treatment modality. If the …
develop both pre-and postnatally. Angle surgery is the first line treatment modality. If the …
Screening of high-risk deleterious missense variations in the CYP1B1 gene implicated in the pathogenesis of primary congenital glaucoma: A comprehensive in silico …
Background Primary congenital glaucoma (PCG) is the most common subtype of glaucoma
caused by defects in the cytochrome P450 1B1 (CYP1B1) gene. It is developing among …
caused by defects in the cytochrome P450 1B1 (CYP1B1) gene. It is developing among …
Genetic changes and testing associated with childhood glaucoma: A systematic review
A Kumar, Y Han, JT Oatts - Plos one, 2024 - journals.plos.org
Many forms of childhood glaucoma have been associated with underlying genetic changes,
and variants in many genes have been described. Currently, testing is variable as there are …
and variants in many genes have been described. Currently, testing is variable as there are …
Risk Factors for Blindness in Children With Primary Congenital Glaucoma—Follow-up of a Registry Cohort
R Alshigari, A Freidi, C Souru, DP Edward… - American Journal of …, 2021 - Elsevier
Purpose To evaluate the baseline features associated with blindness in a cohort of children
with primary congenital glaucoma (PCG) from a hospital registry. DESIGN Retrospective …
with primary congenital glaucoma (PCG) from a hospital registry. DESIGN Retrospective …
[HTML][HTML] Investigation of mutational spectrum in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma
T Zahid, MU Khan, A Zulfiqar, F Jawad… - Pakistan Journal of …, 2023 - ncbi.nlm.nih.gov
Objective: To identify the genetic variants in the CYP1B1 gene associated with Primary
Congenital Glaucoma (PCG) and to predict its pathological effect. Method: A descriptive …
Congenital Glaucoma (PCG) and to predict its pathological effect. Method: A descriptive …
Генетическая эпидемиология первичной врожденной глаукомы в мире. Часть I
ЖГ Оганезова, ВВ Кадышев, ЕА Егоров - Офтальмология, 2023 - ophthalmojournal.com
Аннотация Для понимания современной ситуации с генетической эпидемиологией
первичной врожденной глаукомы (ПВГ) в мире было проанализировано 87 публикаций …
первичной врожденной глаукомы (ПВГ) в мире было проанализировано 87 публикаций …
Glaucoma detection through fundus images using radial basis function with color and GLCM feature extraction
GA Paramastri, RA Pramunendar - 2021 International Seminar …, 2021 - ieeexplore.ieee.org
Glaucoma is a major global cause of blindness who responsible for approximately 5.2
million blind cases which is 15% of the total burden of world blindness. This disease …
million blind cases which is 15% of the total burden of world blindness. This disease …
Proteome characterization of tears in mammals, as well as retina and ophthalmic artery of Cyp2c44 gene knock-out mice supplemented with omega-3 polyunsaturated …
A Lässiger-Herfurth - 2024 - ul.qucosa.de
Abstract (DE) Die Identifizierung von Proteinen durch Massenspektrometrie stellt eine
effektive und aussagekräftige Möglichkeit dar, zelluläre Mechanismen zu entschlüsseln. Das …
effektive und aussagekräftige Möglichkeit dar, zelluläre Mechanismen zu entschlüsseln. Das …
Mutation Screening of the CYP1B1 Gene Reveals Novel and Recurrent Pathogenic Variants in Pakistani Primary Congenital Glaucoma Patients
WA Surhio, FF Khidri, MI Haroon… - Journal of Liaquat …, 2024 - ojs.lumhs.edu.pk
OBJECTIVE: To identify the pathogenic alleles in primary congenital glaucoma patients for
early cure of the disease METHODology: A cross-sectional descriptive study was carried out …
early cure of the disease METHODology: A cross-sectional descriptive study was carried out …