X-Linked Retinal Dysplasia Latest Advances

Journal: Revista espanola de patologia : publicacion oficial de la Sociedad Espanola de Anatomia Patologica y de la Sociedad Espanola de Citologia

Published: August 26, 2024

Urinary prostaglandin D2 and E2 metabolites are elevated with disease severity in patients with Fukuyama congenital muscular dystrophy.

Journal: Scientific reports

Published: August 22, 2024

X-Linked Retinal Dysplasia Latest Advances

Find the Latest Research About X-Linked Retinal Dysplasia

Comparison of Presumed Geographic Retinal Dysplasia Between a Cavalier King Charles Spaniel and a Labrador Retriever.

Comparison of Presumed Geographic Retinal Dysplasia Between a Cavalier King Charles Spaniel and a Labrador Retriever.

Neonatal Purpura Fulminans: An Unusual Cause of Leukocoria, Retinal Detachment, and Vitreous Hemorrhage in Neonates.

Neonatal Purpura Fulminans: An Unusual Cause of Leukocoria, Retinal Detachment, and Vitreous Hemorrhage in Neonates.

Dysfunctional CRPPA is responsible for recessively inherited Hereford hydrocephalus with muscular dystrophy and retinal dysplasia.

Dysfunctional CRPPA is responsible for recessively inherited Hereford hydrocephalus with muscular dystrophy and retinal dysplasia.

Investigating motile ciliopathies in a pediatric case of an abnormal optic nerve head.

Investigating motile ciliopathies in a pediatric case of an abnormal optic nerve head.

Deletion of versican V0/V2 isoforms in mice leads to retinal dysplasia.

Deletion of versican V0/V2 isoforms in mice leads to retinal dysplasia.

Ophthalmologic manifestations associated with Fukutin (FKTN) variant subtypes in Korean patients with Fukuyama congenital muscular dystrophy: a single-center retrospective case series.

Ophthalmologic manifestations associated with Fukutin (FKTN) variant subtypes in Korean patients with Fukuyama congenital muscular dystrophy: a single-center retrospective case series.

Fukuyama congenital muscular dystrophy: Clinical features and therapeutic advances.

Fukuyama congenital muscular dystrophy: Clinical features and therapeutic advances.

Early-Onset Retinal Dysfunction Associated with Novel WDR19 Variants in Sensenbrenner Syndrome.

Early-Onset Retinal Dysfunction Associated with Novel WDR19 Variants in Sensenbrenner Syndrome.

Nonrandomized Allocation of Steroid Therapy in Patients With Fukuyama Congenital Muscular Dystrophy: Study Protocol for a Phase II Clinical Trial.

Nonrandomized Allocation of Steroid Therapy in Patients With Fukuyama Congenital Muscular Dystrophy: Study Protocol for a Phase II Clinical Trial.

Cross-Sectional Study of the Association Between Plasma Brain Natriuretic Peptide Levels and Left Ventricular Shortening Fraction in Fukuyama Congenital Muscular Dystrophy.

Cross-Sectional Study of the Association Between Plasma Brain Natriuretic Peptide Levels and Left Ventricular Shortening Fraction in Fukuyama Congenital Muscular Dystrophy.

Multidisciplinary approach to reach a foetal diagnosis of Walker-Warburg syndrome: From autopsy to genetics and back.

Multidisciplinary approach to reach a foetal diagnosis of Walker-Warburg syndrome: From autopsy to genetics and back.

Urinary prostaglandin D2 and E2 metabolites are elevated with disease severity in patients with Fukuyama congenital muscular dystrophy.

Urinary prostaglandin D2 and E2 metabolites are elevated with disease severity in patients with Fukuyama congenital muscular dystrophy.