Results 181 to 190 of about 833 (294)

Identification and functional validation of a novel disease‐causing variant in the noncoding region of NYX

Acta Ophthalmologica, EarlyView.
Abstract Purpose Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of disorders, with ~30% of cases remaining genetically unsolved. Complete congenital stationary night blindness (cCSNB) is a subtype of IRD, usually associated with reduced visual acuity, nystagmus and high myopia.
Filip Spanic, Christelle Michiels, Julien Navarro, Aline Antonio, Christel Condroyer, Camille Andrieu, Billy Gipsy, Sylvie Berthémy‐Pellet, Mathilde Gallice, Isabelle Audo, Christina Zeitz   +10 more
wiley   +1 more source

Disseminated herpes simplex virus infection in pregnancy [PDF]

Biomedica
Oliveros A, Fonseca PA, Pérez CA, González JM.   +3 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

The oscillatory response of the electroretinogram and neuronal adaptation

Acta Ophthalmologica, EarlyView.
Abstract After more than 50 years, there still remains a challenge and an interest to know more as well as extend and deepen our understanding of the small rapid wavelets, the oscillatory potentials (OPs), of the electroretinogram (ERG) and the neuronal adaptation of the retina.
Lillemor Wachtmeister, Anders Eklund
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  

[Effects of the volcano eruptions on human health]. [PDF]

Rev Med Inst Mex Seguro Soc
Etchegaray-Morales I, Mendoza-Pinto C, Munguía-Realpozo P, Cárdenas-García M, García-Carrasco M.   +4 more
europepmc   +1 more source

Age distribution and characteristics of choroidal nevi in 35 559 individuals: A nationwide study using optometry fundus photography

Acta Ophthalmologica, EarlyView.
Abstract Purpose To examine the age distribution and characteristics of choroidal nevi in a large nationwide sample. Methods We included all individuals who underwent fundus photography in a nationwide chain of optometry stores during a 5‐week period in 2023.
Carsten Faber, Hibba Quhill, Danson Muttuvelu, Jens Folke Kiilgaard   +3 more
wiley   +1 more source

[Peripheral ulcerative keratitis with necrotizing scleritis, manifestation of granulomatosis with polyangiitis]. [PDF]

Rev Med Inst Mex Seguro Soc
Rebolloso-González AU, González-De la Mora DLÁ.   +1 more
europepmc   +1 more source

Ultrasound, PET/CT or temporal artery biopsy for giant cell arteritis? A prospective diagnostic accuracy study (the GAME‐study)

Acta Ophthalmologica, EarlyView.
Abstract Purpose To investigate the diagnostic performance of ultrasound, 2‐deoxy‐2‐[18F]fluoro‐D‐glucose positron emission tomography/computed tomography (2‐[18F]FDG PET/CT) and temporal artery biopsy (TAB) in giant cell arteritis (GCA). Methods This was a prospective single‐centre diagnostic accuracy study (ClinicalTrials.gov NCT05248906).
Michael S. Hansen, Lene Terslev, Uffe M. Døhn, Viktoria Fana, Jane M. Brittain, Anne K. Wiencke, Steffen Heegaard, Mads R. Jensen, Oliver N. Klefter, Yousif Subhi, Steffen Hamann   +10 more
wiley   +1 more source

[Pediatric oral health: basic suggestions during and after the COVID-19 health emergency at home and in the clinical setting]. [PDF]

Rev Cient Odontol (Lima), 2021
Perona-Miguel de Priego GA, Mungi-Castañeda S.   +1 more
europepmc   +1 more source