Results 131 to 140 of about 9,451 (197)

Characteristic MRI pattern in <i>LMNB1</i>-related autosomal dominant leukodystrophy: a case report. [PDF]

Front Neurosci
Wang YX, Du T, Yang CL, Zhang M, Duan RS.   +4 more
europepmc   +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

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

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

Serum neuronal, glial and mitochondrial markers in autosomal dominant optic atrophy and Leber hereditary optic neuropathy. [PDF]

Brain Commun
Rufa A, Plantone D, Bargagli A, Righi D, Bacci T, Serchi V, Primiano G, Gallus GN, Lopergolo D, Pretegiani E, Rosini F, Locci S, Tosi GM, De Stefano N.   +13 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