Results 151 to 160 of about 1,452,519 (228)

De Novo MFN2 p.Arg95Met in Severe Charcot-Marie-Tooth Disease Type 2A. [PDF]

J Peripher Nerv Syst
Lee HY, Cheng WL, Pan SH, Lee CJ, Wei YH, Liu CS.   +5 more
europepmc   +1 more source

How Early Should I Refer My Patient? The Benefits of a Quick Ophthalmic Referral in Spinocerebellar Ataxias, a Case Series and Literature Review. [PDF]

Brain Sci
Fiscal-Carvajal AB, De-León-Guerra JL, Salinas-Aguirre CE, Ibarra-Ramírez M, Fernández-de-Luna ML, Estrada-Bellmann IE, Arenas-Estala J, Campos-Acevedo LD, Mohamed-Noriega J.   +8 more
europepmc   +1 more source

Multimodal Imaging of Dual BEST1/EFEMP1-Associated Hereditary Macular Disease. [PDF]

J Clin Med
Pawloff M, Hollaus M, Mylonas G, Pircher M, Hitzenberger CK, Pfeifer M, Pulido JS, Holder GE, Sacu S, Ritter M.   +9 more
europepmc   +1 more source

Update on Genetic Chorea. [PDF]

Curr Neurol Neurosci Rep
Ostrozovicova M, Skorvanek M.
europepmc   +1 more source

IF204a Temporal Cupping with Dominant Hereditary Optic Atrophy

Right eye with temporal pallor and shallow cupping. Pair with IF2_4b. 1960. Anatomy: Optic disc. Pathology: Dominant hereditary optic atrophy. Disease/ Diagnosis: Dominant hereditary optic atrophy.
William F. Hoyt, MD
core  

Genetic Architecture and Clinical Phenotypes of Primary Open-Angle Glaucoma: An Updated Review of Mendelian Genes, GWAS Loci, and Polygenic Risk. [PDF]

Clin Ophthalmol
Abu-Amero KK, Abualkhair S, AlOtaibi H, Sesma G.   +3 more
europepmc   +1 more source

IF202b Temporal Cupping with Dominant Hereditary Optic Atrophy

Left eye. Teenage boy. Dominant hereditary optic atrophy (Kjer). Shows temporal pallor only. Shallow temporal cup. Pair with IF2_2a. 1975. Anatomy: Optic disc. Pathology: Dominant hereditary optic atrophy.
William F. Hoyt, MD
core  

Phenotypic Variations in a Large Family with Dominant Optic Atrophy Related to a Novel <i>OPA1</i> Deletion. [PDF]

Ophthalmol Sci
Bouzidi A, Amati-Bonneau P, Desquiret-Dumas V, Beaulieu C, Guichet A, Bris C, Bocquet B, Dieu X, Reynier P, Mirebeau-Prunier D, Houdayer C, Planes M, Odent S, Meunier I, Bonneau D, Charif M, Lenaers G, Zanlonghi X.   +17 more
europepmc   +1 more source

IF202a Temporal Cupping with Dominant Hereditary Optic Atrophy

Right eye. Teenage boy. Dominant hereditary optic atrophy (Kjer). Shows pallor and shallow cupping temporally. Pair with IF2_2b. 1975. Anatomy: Optic disc. Pathology: Dominant hereditary optic atrophy.
William F. Hoyt, MD
core  

Early Molecular Testing for Presumptive Genetic Eye Diseases. [PDF]

Genes (Basel)
Ibarra-Ramírez M, Mohamed-Noriega J, Arenas-Estala J, Rodríguez-Torres DA, Campos-Acevedo LD, Fernández-de-Luna ML.   +5 more
europepmc   +1 more source