Concepedia

Retinal Dysgenesis

Retinal Dysgenesis is a congenital ocular anomaly characterized by abnormal development or structural disorganization of the retina, distinguishing it from other retinal pathologies by its origin in disrupted embryogenesis rather than degenerative, vascular, or acquired processes.

90

Publications

5.4K

Citations

815

Authors

208

Institutions

Publications per year

2017–2026

16

Parents

Publications

90

Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse

Mehul Dattani, Juan Pedro Martı́nez-Barberá, Paul Q. Thomas et al. · Nature Genetics · 1998 · 792 citations

, , +11

Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome

Nicholas Katsanis, Philip L. Beales, Michael O. Woods et al. · Nature Genetics · 2000 · 321 citations

, , +16

Modification of Ocular Defects in Mouse Developmental Glaucoma Models by Tyrosinase

Richard T. Libby, Richard S. Smith, Adriana Zabaleta et al. · Science · 2003 · 234 citations

, , +17

Excess cone cell proliferation due to lack of a functional NR2E3 causes retinal dysplasia and degeneration in rd7/rd7 mice

Neena B. Haider · Human Molecular Genetics · 2001 · 204 citations · Full text

, , +17

The human retinal degeneration slow (RDS) gene: Chromosome assignment and structure of the mRNA

Gabriel H. Travis, Lori B. Christerson, Patria E. Danielson et al. · Genomics · 1991 · 141 citations

, , +13

1–5 of 90

Authors

815

  1. SW
    Simon W. M. John

    Jackson Laboratory, United States

    3 publications · 419 citations

    3

    h-index

  2. JR
    John R. Heckenlively

    University of Michigan, United States

    3 publications · 180 citations

    3

    h-index

  3. AM
    Arthur M. Silverstein

    Johns Hopkins University, United States

    3 publications · 154 citations

    3

    h-index

  4. AR
    Andrew R. Webster

    University College London, United Kingdom

    3 publications · 174 citations

    3

    h-index

  5. DB
    Douglas B. Gould

    University of California, San Francisco, United States

    2 publications · 185 citations

    2

    h-index

1–5 of 815

Institutions

208

  1. University College London

    London, United Kingdom

    8 h-index

    80 publications

    3K citations

  2. Jackson Laboratory

    Bar Harbor, United States

    6 h-index

    14 publications

    1.9K citations

  3. Moorfields Eye Hospital

    London, United Kingdom

    5 h-index

    29 publications

    1K citations

  4. Johns Hopkins Medicine

    Baltimore, United States

    5 h-index

    15 publications

    638 citations

  5. Johns Hopkins University

    Baltimore, United States

    5 h-index

    15 publications

    638 citations

  6. Radboud University Nijmegen

    Nijmegen, The Netherlands

    4 h-index

    18 publications

    1.2K citations

  7. University of Pennsylvania

    Philadelphia, United States

    4 h-index

    7 publications

    579 citations

  8. Yale University

    New Haven, United States

    4 h-index

    8 publications

    480 citations

1–8 of 208

Venues

  1. PubMed

    Repository · 10 publications · 366 citations

    10

    h-index

  2. American Journal of Ophthalmology

    8 publications · 402 citations

    8

    h-index

  3. Experimental Eye Research

    7 publications · 320 citations

    7

    h-index

  4. Human Molecular Genetics

    5 publications · 543 citations

    5

    h-index

  5. Human Genetics

    4 publications · 109 citations

    4

    h-index

1–5