Results 211 to 220 of about 2,460,078 (269)

A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort. [PDF]

NPJ Genom Med
Ullah M, Rehman AU, Quinodoz M, Rashid A, Cancellieri F, Munir A, Kaminska K, Iqbal A, Javed S, Dawood M, Baig HMA, Saleha S, Naz S, Kausar H, Waryah AM, Superti-Furga A, Ansar M, Rivolta C.   +17 more
europepmc   +1 more source

Beyond Skin and Eyes: The Medical and Social Burden of Oculocutaneous Albinism in Africa: A Narrative Review

JEADV Clinical Practice, EarlyView.
ABSTRACT Oculocutaneous albinism (OCA) is a genetic disorder found worldwide, but its impact is particularly pronounced in the African continent. This results from both a higher prevalence and the persistent myths and superstitions surrounding the condition in many African communities.
Rebecca Donadoni, Niccolò Capurro, Alessandro Svizzero, Valeria Brazzelli   +3 more
wiley   +1 more source

Exploring Concomitant Ophthalmic Comorbidities in Portuguese Patients with Inherited Retinal Diseases: A Comprehensive Clinical Study. [PDF]

Genes (Basel)
Mesquita R, Marta A, Marques-Couto P, Costa J, Estrela-Silva S, Cabral D, Marques JP, Vaz-Pereira S.   +7 more
europepmc   +1 more source

Addressing Challenges in Developing Treatments for Inherited Retinal Diseases: Recommendations From the Third Monaciano Symposium. [PDF]

Transl Vis Sci Technol
Thompson DA, Jayasundera KT, Alekseev O, Ali RR, Amato A, Arshavsky VY, Audo IS, Auricchio A, Bainbridge JWB, Banin E, Besirli CG, Birch DG, Branham KE, Cideciyan AV, Daiger SP, Duncan JL, Fahim AT, Flannery JG, Gattegna R, Heckenlively JR, Héon E, Iannaccone A, Khan NW, Khateb S, Klassen HJ, Leroy BP, Marangoni D, Michaelides M, Musch DC, Pennesi ME, Petersen-Jones SM, Pierce EA, Rao RC, Sahel JA, Sieving PA, Strettoi E, Strong CR, Wubben TJ, Yang P, Zacks DN, Monaciano Consortium.   +40 more
europepmc   +1 more source

Orbital Lymphatic Malformations Are Associated With Intracranial Vascular Anomalies

The Laryngoscope, EarlyView.
In this retrospective series, all seven patients with orbital lymphatic malformations had intracranial vascular anomalies consistent with cerebrofacial venous metameric syndrome and hotspot PIK3CA variants identified through tissue‐based sequencing. Five patients treated with alpelisib experienced symptom improvement within 6 months.
Kelsey A. Loy, Jennifer Siu, Clare Richardson, J. Nathaniel Perkins, Kaitlyn Zenner, Kevin Koo, Francisco Perez, James Bennett, Randall Bly, Danial K. Hallam, Amy Geddis, Jonathan A. Perkins   +11 more
wiley   +1 more source

Fundus imaging in Danon’s disease

Indian Journal of Ophthalmology. Case Reports
Sakshi Shiromani, Anika Quillin, Nieraj Jain   +2 more
doaj   +1 more source

Correction: Canine models of inherited retinal diseases: from neglect to well-recognized translational value. [PDF]

Mamm Genome
Dufour VL, Aguirre GD.
europepmc   +1 more source

Optical Stimulation and Monitoring of the Peripheral Nervous System: Perspectives and Challenges Toward Clinical Translation

Laser &Photonics Reviews, EarlyView.
Optical neuromodulation with IR light allows stimulation of the PNS without the need for physical contact with the target nerve or without requiring any genetic modification. The clinical translation of this technique will pave the way to the development of neural interfaces for restoring sensory feedback in individuals with limb amputation.
Federica Piccirillo, Sarassunta Ucci, Anna Aliberti, Patrizio Vaiano, Alessia La Rocca, Francesca Angelone, Silvia Pascarella, Pellegrino Lippiello, Maria Concetta Miniaci, Giuseppe Prisco, Michela Russo, Francesco Amato, Deyanira Contartese, Milena Fini, Gianluca Giavaresi, Lucia Martini, Francesco Rosa, Cosimo Gentile, Emanuele Gruppioni, Armando Ricciardi, Andrea Cusano   +20 more
wiley   +1 more source

Panel-Based Genetic Testing in a Consecutive Series of Individuals with Inherited Retinal Diseases in Australia: Identifying Predictors of a Diagnosis. [PDF]

Genes (Basel)
Britten-Jones AC, Hickey DG, Edwards TL, Ayton LN.   +3 more
europepmc   +1 more source

Proteomics of Nitrotyrosine: Integrating Mass Spectrometry and Immunodetection in Redox‐Driven Pathology

Mass Spectrometry Reviews, EarlyView.
ABSTRACT Nitrooxidative stress, driven by excess reactive nitrogen species like peroxynitrite, contributes to the pathogenesis of many chronic diseases. Among its molecular footprints, 3‐nitrotyrosine (3NT) has emerged as a biologically relevant marker of protein nitration.
Brîndușa Alina Petre
wiley   +1 more source