Results 211 to 220 of about 12,829 (257)

Expanding the Phenotypic Spectrum Associated With Loss‐of‐Function SMARCA4 Variants to Eye Developmental Anomalies

Clinical Genetics, EarlyView.
This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau, Marjolaine Willems, Abdelhakim Bouazzaoui, Léopoldine Lequeux, Julie Plaisancié, Salima El Chehadeh, Hélène Dollfus, Nicolas Chassaing   +7 more
wiley   +1 more source

Evaluating Fundoscopy as a Screening Tool for Optic Nerve Atrophy in Multiple Sclerosis: An Optical Coherence Tomography (OCT) Comparative Study. [PDF]

J Clin Med
Donica VC, Danielescu C, Alexa AI, Pavel IA, Donica AL, Grosu C, Sandu CA, Bogdănici CM.   +7 more
europepmc   +1 more source

Expanding Phenotype of GINS1 Deficiency: A Case Report and Review of the Literature

Clinical Genetics, EarlyView.
The authors present a novel case and review of individuals with GINS1 deficiency, causing severe growth restriction and combined immunodeficiency. Only the ninth case of this ultrarare disorder, it highlights the role of these variants in disease, glaucoma as a feature, and the possibility of immunodeficiency without infections in affected individuals.
Michael P. Mackley, Rae Brager, Hannah Geddie, Vicky Breakey, Rebecca Hough, Dimitrios J. Stavropoulos, Vanda McNiven   +6 more
wiley   +1 more source

Preverbal visual assessment for screening cerebral visual impairment: Diagnostic accuracy and clinical utility

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To evaluate the relationship between Preverbal Visual Assessment (PreViAs) results and cerebral visual impairment (CVI) diagnosis. Method This single‐center retrospective chart review included children who completed a CVI interdisciplinary clinic or occupational therapy vision evaluation between May 2018 and May 2023 and had a completed ...
Karen L. Harpster, Terry L. Schwartz, Alaina Johnson, Reena Donofe, Li Lin, Melissa L. Rice   +5 more
wiley   +1 more source

The genetic puzzle of FAP: exploring novel diagnostic approaches for APC/MUTYH-negative case. [PDF]

Hered Cancer Clin Pract
Grot N, Kazimierczyk M, Szuman M, Kaczmarek-Ryś M, Kryszczyńska A, Dziechciowska I, Knaur M, Hnatyszyn A, Hryhorowicz S, Pławski A.   +9 more
europepmc   +1 more source

Lennox–Gastaut syndrome unveiled: Advancing diagnosis, therapies, and advocacy‐insights from the Genoa International Workshop

Epilepsia, EarlyView.
Abstract Lennox–Gastaut syndrome (LGS) is one of the most severe, yet one of the most discussed, childhood‐onset developmental and epileptic encephalopathies (DEEs). Dissent among epileptologists on the definition and minimum set of electroclinical features derives from the high etiological heterogeneity within the syndrome, which could make its ...
Antonella Riva, Gianluca D'Onofrio, Elisabetta Amadori, Alexis Arzimanoglou, Stéphane Auvin, Irene Bagnasco, Paola Barabino, Valentina Biagioli, Isabella Brambilla, Giuliana Cangemi, Antonietta Coppola, Antonella De Lillo, Carlo Di Bonaventura, Giancarlo Di Gennaro, Edoardo Ferlazzo, Antonio Gil‐Nagel, Giuseppe Gobbi, Simona Lattanzi, Gerhard Kluger, Günter Krämer, Maria Margherita Mancardi, Carlo Minetti, Lino Nobili, Elisa Paravati, Milka Pringsheim, Erika Rebessi, Antonino Romeo, Angelo Russo, Emilio Russo, Katia Santoro, Susanne Schubert‐Bast, Laura Siri, Jo Sourbron, Maria Stella Vari, Alberto Verrotti, Flavio Villani, Maurizio Viri, Celina von Stülpnagel, Nelia Zamponi, Federico Zara, Pasquale Striano   +40 more
wiley   +1 more source

Recent Advances in Wearable Biosensors for Human Health Monitoring. [PDF]

Biosensors (Basel)
Xian X.
europepmc   +1 more source

Limbal cystotomy by fine needle aspiration of a translucent iris cyst in a horse

Equine Veterinary Education, EarlyView.
Summary A 4‐year‐old Cremello crossbred mare was referred to the Equine Veterinary Teaching Hospital of Utrecht University for a translucent iris cyst from the dorsal pupillary margin corpora nigra in the right eye. Although noninvasive diode laser treatment is the preferred method of pigmented cyst ablation, two attempts did not result in disruption ...
A. L. Hendrikx, S. Veraa, J. P. A. M. van Loon, H. Hermans, I. J. M. Slenter, E. M. S. Visser   +5 more
wiley   +1 more source

Objective Evaluation of Inferior Oblique Overaction Using an Interocular Level Difference Gauge. [PDF]

Korean J Ophthalmol
Lee HW, Doh I, Lee YH.
europepmc   +1 more source

The technical and practical implementation of fundus photography in equids

Equine Veterinary Education, EarlyView.
Summary Background Fundus photography is an important diagnostic tool in human and veterinary medicine. Advances in research are increasing its accessibility in human medicine. However, there is a lack of studies on modern fundus photography in animals, particularly in horses. Objectives To assess the use of a portable fundus camera developed for human
I. Vierling, B. Wollanke, V. Franzen
wiley   +1 more source