Compounds > arginine

arginine and Eye Diseases, Hereditary

arginine has been researched along with Eye Diseases, Hereditary in 5 studies

Research

Studies (5)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's3 (60.00)18.2507
2000's1 (20.00)29.6817
2010's1 (20.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Ades, L; Benedict, S; Bradley, TJ; Braverman, AC; Brickner, ME; Chatfield, KC; Child, A; De Backer, J; Estrera, A; Feist, C; Holmes, KW; Iannucci, G; Lorenz, B; Mark, P; Mellor-Crummey, L; Milewicz, DM; Mitchell, AL; Morisaki, H; Morisaki, T; Morris, SA; Musolino, P; Ostergaard, JR; Pyeritz, R; Regalado, ES; Richer, J; Sallee, D; Shalhub, S; Tekin, M; Yetman, A1
Boman, H; Bredrup, C; Knappskog, PM; Rødahl, E1
Conley, YP; Ferrell, RE; Johnson, K; Mintz-Hittner, HA1
Hejtmancik, FJ; Shastry, BS; Trese, MT1
Bingham, EL; Hiriyanna, K; Kemp, J; Richards, J; Sieving, PA1

Other Studies

5 other study(ies) available for arginine and Eye Diseases, Hereditary

ArticleYear
Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations.
    Genetics in medicine : official journal of the American College of Medical Genetics, 2018, Volume: 20, Issue:10

    Topics: Actins; Adolescent; Adult; Aortic Aneurysm, Thoracic; Arginine; Child; Child, Preschool; Ductus Arteriosus, Patent; Eye Diseases, Hereditary; Genetic Predisposition to Disease; Genetic Testing; Humans; Infant; Medical Records; Muscle, Smooth; Mydriasis; Young Adult

2018
Clinical manifestation of a novel PAX6 mutation Arg128Pro.
    Archives of ophthalmology (Chicago, Ill. : 1960), 2008, Volume: 126, Issue:3

    Topics: Adult; Aged; Arginine; Cataract; Corneal Opacity; Eye Diseases, Hereditary; Eye Proteins; Female; Fovea Centralis; Homeodomain Proteins; Humans; Iris; Male; Middle Aged; Mutation, Missense; Nystagmus, Pathologic; Paired Box Transcription Factors; PAX6 Transcription Factor; Pedigree; Proline; Repressor Proteins; Retinal Diseases; Tomography, Optical Coherence

2008
X-linked exudative vitreoretinopathy caused by an arginine to leucine substitution (R121L) in the Norrie disease protein.
    Clinical genetics, 1996, Volume: 50, Issue:3

    Topics: Arginine; Base Sequence; DNA; Eye Diseases, Hereditary; Eye Proteins; Female; Genes, Recessive; Humans; Leucine; Male; Molecular Sequence Data; Pedigree; Point Mutation; Retinal Detachment; Visual Acuity; X Chromosome

1996
Recurrent missense (R197C) and nonsense (Y89X) mutations in the XLRS1 gene in families with X-linked retinoschisis.
    Biochemical and biophysical research communications, 1999, Mar-16, Volume: 256, Issue:2

    Topics: Amino Acid Substitution; Arginine; Base Sequence; Codon, Terminator; Conserved Sequence; DNA Mutational Analysis; Exons; Eye Diseases, Hereditary; Eye Proteins; Female; Genes, Recessive; Genetic Linkage; Humans; Male; Mutation, Missense; Pedigree; Peptide Fragments; Point Mutation; Retinal Degeneration; X Chromosome

1999
Juvenile X-linked retinoschisis from XLRS1 Arg213Trp mutation with preservation of the electroretinogram scotopic b-wave.
    American journal of ophthalmology, 1999, Volume: 128, Issue:2

    Topics: Adolescent; Adult; Arginine; Diagnosis, Differential; DNA; Electroretinography; Exons; Eye Diseases, Hereditary; Eye Proteins; Genetic Linkage; Humans; Male; Middle Aged; Mutation, Missense; Pedigree; Polymerase Chain Reaction; Retina; Retinal Degeneration; Tryptophan; X Chromosome

1999