Results 161 to 170 of about 18,830 (285)

Aniridia‐associated keratopathy: Clinical and molecular mechanisms of disease progression and emerging therapeutic targets

Acta Ophthalmologica, EarlyView.
Abstract Congenital aniridia is a rare genetic disorder primarily caused by pathogenic variants of the PAX6 gene. It leads to various panocular anomalies, including aniridia‐associated keratopathy (AAK). This review highlights recent insights into its pathogenesis, focusing on clinical staging, microstructural changes in the cornea and molecular ...
N. Szentmáry, S. Suiwal, M. Amini, F. N. Fries, A. Náray, L. Latta, Z. Li, S. Li, S. Liu, S. L. Hsu, S. Kundu, G. Tóth, S. Trusen, J. Zimmermann, B. Seitz, B. Käsmann‐Kellner, Z. Hoxha, A. Langenbucher, O. Stachs, M. Cortón‐Perez, K. Tory, A. Csorba, Z. Z. Nagy, M. C. Acosta, J. Gallar, M. Csidey, E. Maka, T. Stachon   +27 more
wiley   +1 more source

[Clinical characterization in patients with neurocutaneous syndrome]. [PDF]

Rev Med Inst Mex Seguro Soc
Hernández-Castañeda Y, Juárez-Melchor D, Vera-Loaiza A, Pérez-Arzola AA, Crisanto-López IE, Rodríguez-Hurtado PO.   +5 more
europepmc   +1 more source

[Treatment and prevention of monkeypox]. [PDF]

Enferm Infecc Microbiol Clin, 2022
de la Calle-Prieto F, Estébanez Muñoz M, Ramírez G, Díaz-Menéndez M, Velasco M, Azkune Galparsoro H, Salavert Lletí M, Mata Forte T, Blanco JL, Mora-Rillo M, Arsuaga M, de Miguel Buckley R, Arribas JR, Membrillo FJ, todos en representación del Grupo de Trabajo de las UAAN – Grupo de Estudio de Patología Importada (GEPI) y Grupo de Trabajo de Monkeypox dentro de la SEIMC.   +14 more
europepmc   +1 more source

Antityphoid Inoculation and Ocular Lesions [PDF]

British Journal of Ophthalmology, 1917
openaire   +2 more sources

The L108I polymorphism in mouse prion protein drives spontaneous disease and enhances transmission of atypical and classical prion strains

Brain Pathology, EarlyView.
A single amino acid change (L108I) combined with PrP overexpression drives spontaneous atypical prion formation in mice, enabling also efficient propagation of diverse prion strains. This model allows studying how spontaneous prion diseases arise and provides powerful tools for investigating strain emergence, transmission barriers, and mechanisms ...
Hasier Eraña, Enric Vidal, Natalia Fernández‐Borges, Jorge M. Charco, Carlos M. Díaz‐Domínguez, Cristina Sampedro‐Torres‐Quevedo, Josu Galarza‐Ahumada, Eva Fernández‐Muñoz, Maitena San‐Juan‐Ansoleaga, Miguel Ángel Pérez‐Castro, Nuno Gonçalves‐Anjo, Patricia Piñeiro, Samanta Giler, Nora González‐Martín, Nuria L. Lorenzo, Africa Manero‐Azua, Guiomar Perez de Nanclares, Mariví Geijo, Manuel A. Sánchez‐Martín, Jesús R. Requena, Joaquín Castilla   +20 more
wiley   +1 more source

Incontinencia pigmenti. Presentación de caso.

Acta Médica del Centro
Introducción: La incontinencia pigmenti es una enfermedad genética neurocutánea de baja frecuencia con expresividad variable y un patrón de herencia dominante ligada al cromosoma X, presentándose casi exclusivamente en féminas, considerándose un gen ...
Elayne Esther Santana Hernández
doaj  

Clinical outcomes of pediatric patients with congenital toxoplasmosis in a fourthlevel center Introduction. Congenital [PDF]

Biomedica
Posada-Bustos S, Mariño AC, Espinosa-García E.   +2 more
europepmc   +1 more source

Erdheim-Chester disease: First pediatric case report in Colombia [PDF]

Biomedica, 2021
Salazar LC, Moreno LÁ, Jaramillo LE, Cabrera EV.   +3 more
europepmc   +1 more source

Visual Function Assessment in Geographic Atrophy: A Review

Clinical &Experimental Ophthalmology, EarlyView.
ABSTRACT Geographic atrophy (GA) causes significant vision impairment and reduction in vision‐related quality of life. Fundus autofluorescence (FAF) is the gold standard of structural assessment of GA but is a surrogate marker for vision loss, which can be assessed by tests of visual function and functional vision.
Ye Li, Lauren N. Ayton, Adrian T. Fung
wiley   +1 more source

[Outcomes of a Transdisciplinary Rehabilitation Program for Patients with Consciousness Disorders (2006-2022, Argentina)] [PDF]

Rev Fac Cien Med Univ Nac Cordoba
Rivas ME, Ron M, Salierno FM, Broggi MS, Bonamico L.   +4 more
europepmc   +1 more source