Results 141 to 150 of about 9,462 (208)

Autosomal dominant optic atrophy plus syndrome [PDF]

, 2020
openaire   +1 more source

Impact of Inner Retinal Layer Thinning on Visual Function in OPA1 Autosomal Dominant Optic Atrophy and Associations With Age and Genetic Variant Class. [PDF]

Invest Ophthalmol Vis Sci
Schrittwieser J, Reitner A, Kircher K, Bertich M, Stapf C, Lilja SV, Paquay A, Reiter GS, Bittner RE, Schmidt WM, Pemp B.   +10 more
europepmc   +1 more source

Autosomal dominant optic atrophy, classic form [PDF]

, 2020
openaire   +1 more source

Expanded Phenotype of PAX2-Related Papillorenal Syndrome: A Case Featuring FSGS, Atypical Retinopathy, Cerebellar Hypoplasia, and ADHD. [PDF]

Clin Case Rep
Sultana N, Mamun AA, Begum A.
europepmc   +1 more source

Expanding the phenotype of Wolfram syndrome: adult presentation with a novel <i>WFS1</i> variant. [PDF]

JCEM Case Rep
Mehrotra P, Vengadakrishnan, Dubey N.
europepmc   +1 more source

Candidate Genes for Non-Syndromic Pediatric Cataracts. [PDF]

Clin Ophthalmol
Rossen JL, Drackley A, Goetsch Weisman A, Ing A, Bohnsack BL.   +4 more
europepmc   +1 more source

The Neuro-Ophthalmologic Manifestations of <i>SPG7</i>-Associated Disease. [PDF]

J Pers Med
Jauregui R, Diaz Curbelo C, Galetta SL, Grossman SN.   +3 more
europepmc   +1 more source

Frequency and Hearing Loss Phenotypes of <i>OPA1</i> Variants in a Cohort of 18,475 Patients with Hearing Impairment. [PDF]

Genes (Basel)
Kawakita M, Moteki H, Nishio SY, Kobayashi Y, Adachi M, Okano T, Yamazaki H, Nakayama J, Ohira S, Ishino T, Takumi Y, Usami SI.   +11 more
europepmc   +1 more source

Clinical and Genetic Findings in an Autosomal Dominant Optic Atrophy-Compatible Phenotype Harboring an OPA1 Variant: A Case Report. [PDF]

Cureus
Murati Calderon RA, Landestoy G, Izquierdo N.   +2 more
europepmc   +1 more source

The NR2F1-Related 5q14.3-q21.1 deletion causing periventricular heterotopia with cerebral visual impairment: a longitudinal case report and genotype-phenotype analysis. [PDF]

Front Genet
St Clair Tracy H, Dutton GN, Hall HN, Blaikie A.   +3 more
europepmc   +1 more source