Results 171 to 180 of about 1,459,190 (233)

AUTOSOMAL DOMINANT OPTIC ATROPHY IS ASSOCIATED WITH INCREASED RISK OF ISCHEMIC HEART DISEASE AND HEART FAILURE

Journal of the American College of Cardiology
W. Parker, Sinan S. Sayood, J. Streeter
semanticscholar   +1 more source

IF205b Temporal Cupping with Dominant Hereditary Optic Atrophy

1970. Left eye. Pair with IF2_5a. 55 year old woman with deficient vision all her life. Typical pattern of dominant hereditary atrophy. Temporal pallor and shallow cupping. Anatomy: Optic disc. Pathology: Dominant hereditary optic atrophy.
William F. Hoyt, MD
core  

Mitochondrial Control of Myelination, Bioenergetics, Oxidative Stress, and the Pathogenesis of Optic Neuropathies. [PDF]

Int J Mol Sci
Sahibzada H, Malik R, Abu-Amero KK.
europepmc   +1 more source

The long road to diagnosis: recessive PMPCB deficiency hidden behind a dominant familial VCP defect. [PDF]

Mol Genet Metab Rep
Unuakhalu R, Purcell A, Jindal I, Wu Y, Arnold M, Dominick KC, Shillington A.   +6 more
europepmc   +1 more source

Ophthalmic Manifestations of KIF11-Associated Microcephaly With or Without Chorioretinopathy, Lymphedema, or Intellectual Disability: A Case Report of a Novel Variant. [PDF]

Am J Case Rep
Alanazi KA, Alosaimi SM, Alzuabi A.
europepmc   +1 more source

Patient with two rare diseases-Renal coloboma syndrome and craniopharyngioma. [PDF]

Radiol Case Rep
Bancevica L, Apine I, Valeina S, Taurina G, Yaacoub WB, Franckevica I, Zaharova J, Malniece I, Baklasova A, Smite Laguna A, Kovalova Z.   +10 more
europepmc   +1 more source

An <i>HK1</i> pathogenic variant associated with an atypical retinal dystrophy phenotype: a case report and insights from literature. [PDF]

Int J Ophthalmol
Su YY, Qiu KR, Wen F, Zhou XL.
europepmc   +1 more source

Presentation of Bilateral Optic Disc Coloboma-Morning Glory Syndrome in Mother and Son, with Retinitis Pigmentosa in the Father. [PDF]

Turk J Ophthalmol
İslambekov Y, Çakır B, Ateş K.
europepmc   +1 more source

Diagnostic Yield and Clinical Impact of Comprehensive WES/WGS Testing Beyond Common Genetic Causes in Hereditary Optic Atrophy. [PDF]

Clin Genet
Johannesen KM, Grønskov K, Kessel L, Holstein SLV, Møller LB, Andersen MKG, Khinchi MS, Hamann S, Wegener M, Bertelsen M.   +9 more
europepmc   +1 more source