Results 121 to 130 of about 1,076,017 (253)

Angiographic features after photodynamic therapy for choroidal neovascularisation in age related macular degeneration and pathological myopia [PDF]

, 2003
Maurízio Battaglia Parodi
openalex   +1 more source

CDG due to Defective Membrane Transporters: Update

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Congenital disorders of glycosylation are genetic defects in the glycoprotein and glycolipid glycan assembly and attachment. Some 200 CDG have been reported since the first clinical description in 1980. Most CDG are enzymatic deficiencies, but 13 (6.5%) are defects in the ER, Golgi apparatus (GA), and plasma membrane transporters.
D. Quelhas, C. R. Ferreira, J. Jaeken
wiley   +1 more source

Outcomes of Conbercept therapy for choroidal neovascularization secondary to pathological myopia

, 2020
Zhengfeng Liu, Xuemei Pan, Dadong Guo, Meihua Ding, Hongsheng Bi   +4 more
openalex   +2 more sources

Genotype–Phenotype Correlations in Klinefelter and Turner Syndrome: A Decade of Sex Chromosome Aneuploidy Data From a Single Academic Medical Center

Molecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.
To understand the relationship between genotype and phenotype in sex chromosome aneuploidies, retrospective cytogenetic and clinical data was collected for Klinefelter Syndrome (n = 57) and Turner Syndrome (n = 92) cases from a single academic medical center from 2013 to 2022. The cohorts were divided into subcategories based on the genotype.
Stephanie A. Hart, Joel A. Morales‐Rosado, Xinxiu Xu, Ashwini K. Yenamandra   +3 more
wiley   +1 more source

N-Acetyltransferase 2 Inhibits Myopia by Maintaining Mitochondrial Metabolism in Scleral Fibroblasts

Research
The excessive elongation of eye axis is a primary contributing factor of myopia, yet the underlying genetic mechanisms remain not fully understood. The study was to explore risk-associated genes of myopia and identified that N-acetyltransferase 2 (NAT2 ...
Wei Gong, Zhi Shen, Lingyi Zhao, Tianyu Cheng, Bo Zhang, Jun Chen, Jingjing Wang, Zhiqiang Li, Xuemin Jian, Yongyong Shi, Yanqin Wen, Xun Xu, Xiangui He   +12 more
doaj   +1 more source

Whole Exome Sequencing in Patients With Developmental Delay/Intellectual Disability (DD/ID), Epilepsy and the First Turkish Patient Diagnosed With BCL11A‐Related Intellectual Disability

Molecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.
In this study, WES analysis was performed on patients with DD/ID, global developmental delay, epilepsy, and multiple congenital anomalies who could not be diagnosed through karyotype, CMA, and other examinations. Nineteen pathogenic/likely pathogenic (P/LP) variants were identified in 19 patients, and with the confirmation made in the parents and ...
Nejmiye Akkus, Abdullah Canbal, Seda Guneysu, Erkan Gokce, Pakize Duzgun, İbrahim Barıs   +5 more
wiley   +1 more source

Comprehensive analysis of posterior segment characteristics in high myopic Turkish patients

BMC Ophthalmology
Background We aimed to investigate the structural characteristics of high myopia (HM) in a Turkish cohort using spectral domain optical coherence tomography (OCT) and evaluate the relationship between axial length (AL) and various retinal, choroidal, and
Mustafa Kayabaşı, Ali Osman Saatci, Neslihan Demirel, Ziya Ayhan, Mahmut Kaya, Zeynep Özbek, Taylan Öztürk   +6 more
doaj   +1 more source

Assessment of changes in macular structural retinal layers in patients with pathological myopia. [PDF]

Turk J Med Sci, 2023
Çitirik M, Yavuzer K, Bağci F.
europepmc   +1 more source

Advances in Deep Learning Applications for Choroidal Images Analysis: A Narrative Review

IET Image Processing, Volume 20, Issue 1, January/December 2026.
Clinical detection and evaluation of the choroid primarily rely on imaging and subsequent image analysis. The application of artificial intelligence (AI), particularly deep learning (DL), in the analysis of choroidal images shows significant potential for improving accuracy and efficiency.
Yiwen Shi, Zixuan Jiang, Ziyi Yang, Houjin Chen, Xuemin Li, Jiarui Yang   +5 more
wiley   +1 more source

Intravitreal Avastin for choroidal neovascularisation in pathological myopia: the controversy continues [PDF]

, 2007
Philip J. Rosenfeld
openalex   +1 more source