Results 201 to 210 of about 112,737 (278)

Axial length, myopia progression, and myopic maculopathy in Stickler syndrome

Acta Ophthalmologica, EarlyView.
Abstract Purpose We lack knowledge on the potentially progressive nature of and the prevalence of complications to myopia as a characteristic trait of Stickler syndrome. Methods This cross‐sectional study combines ophthalmic examination and medical record data on Danish patients with genetically confirmed Stickler syndrome type 1 (COL2A1) and type 2 ...
Kirstine B. Boysen, Mette Bertelsen, Nanna D. Rendtorff, Stense Farholt, Line Kessel   +4 more
wiley   +1 more source

Levodopa Suppresses Choroidal Neovascularization Through a Tyrosinase-Dependent Dual Mechanism. [PDF]

Invest Ophthalmol Vis Sci
Veernala I, Cuamatzi-Castelan AS, Rajesh A, Gong J, D'Souza GJ, Lavine JA.   +5 more
europepmc   +1 more source

The prechoroidal cleft in neovascular age‐related macular degeneration

Acta Ophthalmologica, EarlyView.
Abstract The prechoroidal cleft is a lenticular, hypo‐reflective space on optical coherence tomography imaging, located between a band of fibrovascular material underneath the retinal pigment epithelium (RPE) and Bruch's membrane. It occurs in 8%–22% of neovascular age‐related macular degeneration (nAMD) eyes, most often with macular neovascularization
Niels J. Brouwer, T. H. Khanh Vu, Yvonne De Jong‐Hesse, Elon H. C. van Dijk   +3 more
wiley   +1 more source

Inhibition of Pathological Mitochondrial Fission in Retinal Pigment Epithelium Mitigates Choroidal Neovascularization. [PDF]

Invest Ophthalmol Vis Sci
Yasuda H, Nakamura S, Shirakawa A, Kuse Y, Shimazawa M.   +4 more
europepmc   +1 more source

Optical genome mapping detects cryptic high‐risk and targetable abnormalities in adult AML

British Journal of Haematology, EarlyView.
Summary Acute myeloid leukaemia (AML) risk stratification relies on cytogenetic and molecular abnormalities defined by European LeukemiaNet (ELN) 2022. Conventional cytogenetic techniques, including chromosomal banding analysis (CBA) and fluorescence in situ hybridization, have limited resolution and may miss cryptic events. Optical genome mapping (OGM)
Audrey Bidet, Elodie Laharanne, Manon Dos Santos, Anne‐Charlotte De Grande, Thibaut Leguay, Arnaud Pigneux, Eric Frison, Sandrine Achard, Stéphanie Dupont‐Moufakkir, Emilie Klein, Pierre‐Yves Dumas   +10 more
wiley   +1 more source

Toward Comprehensive Clinical Genomics: Integrating Exon-Level Analysis for Detecting Monogenic Copy Number Variations. [PDF]

Ann Lab Med
Seo EJ.
europepmc   +1 more source

Somatic and germline genetic testing pathways in haematological malignancies: Best practice consensus guidelines from the 2025 national meeting organised by UK Cancer Genetics Group (UKCGG), CanGene‐CanVar and the NHS England Haematological Oncology Working Group

British Journal of Haematology, EarlyView.
Summary Genomic technologies including next‐generation sequencing (NGS) and arrays for cytogenetic anomalies are now standard of care in England for the diagnostic evaluation of patients with suspected haematological malignancies. Challenges remain in the management of potential germline findings as a result of NGS panels and copy number variant ...
B. Speight, A. Hamblin, P. Talley, O. Tsoulaki, R. Robinson, P. Dean, J. Khorashad, A. Kulasekararaj, A. L. Godfrey, A. J. Mead, T. P. McVeigh, K. Snape, on behalf of Consensus Meeting Attendees   +12 more
wiley   +1 more source

Celafolin A-1 Ameliorates Subretinal Fibrosis via Inhibition of Crystallin Alpha B in a Laser-Induced Choroidal Neovascularization Mouse Model. [PDF]

Biomol Ther (Seoul)
Yu E, Gu SM, Kim H, Kim JG, Hwang BY, Min JK, Yun J.   +6 more
europepmc   +1 more source

Immunohistochemistry as a tool for identifying EGFR amplification in CNS tumors

Brain Pathology, EarlyView.
EGFR gene amplification constitutes a diagnostic hallmark for glioblastoma, IDH‐wildtype (GB, IDH‐WT). Herein, we demonstrated that EGFR IHC is a highly specific and sensitive biomarker for identifying EGFR amplification and should be part of the neuropathologist's routine panel of antibodies.
Arnault Tauziède‐Espariat, Mary Bah, Farah Sassi, Noémie Pucelle, Charlotte Berthaud, Marion Mandoula, Zeina Dababou, Noah Carnes, Leïla Brissez, Lauren Hasty, Euphrasie Servant, Alice Métais, Pascale Varlet   +12 more
wiley   +1 more source