Concepedia

Norrie Disease

Norrie Disease is a rare X-linked recessive vitreoretinopathy characterized by congenital bilateral pseudotumor oculi, retinal dysplasia, and progressive sensorineural hearing loss, caused by mutations in the NDP gene encoding norrin, a key signaling protein in retinal vascular development.

164

Publications

7.5K

Citations

688

Authors

295

Institutions

Publications per year

2017–2026

11

Parents

Publications

164

A mutation in the Norrie disease gene (NDP) associated with X–linked familial exudative vitreoretinopathy

Z-Y. Chen, Elisabeth M. Battinelli, A R Fielder et al. · Nature Genetics · 1993 · 357 citations

, , +12

Human monoamine oxidase A and B genes map to xp11.23 and are deleted in a patient with norrie disease

Nancy C. Lan, Camilla Heinzmann, Andreas Gal et al. · Genomics · 1989 · 202 citations

, , +11

Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis

Graeme C. Black · Human Molecular Genetics · 1999 · 201 citations

, , +17

Isolation and characterization of a candidate gene for Norrie disease

Z-Y. Chen, Rudi W. Hendriks, Mark A. Jobling et al. · Nature Genetics · 1992 · 197 citations

, , +13

Identification of Missense Mutations in the Norrie Disease Gene Associated With Advanced Retinopathy of Prematurity

Barkur S. Shastry · Archives of Ophthalmology · 1997 · 178 citations

, , +17

1–5 of 164

Authors

688

  1. KB
    Katherine B. Sims

    Massachusetts General Hospital, United States

    18 publications · 1.1K citations

    16

    h-index

  2. WB
    Wolfgang Berger

    University of Zurich, Switzerland

    18 publications · 1.3K citations

    15

    h-index

  3. MT
    Michael T. Trese

    Associated Retinal Consultants, United States

    9 publications · 322 citations

    9

    h-index

  4. MW
    Mette Warburg

    Gentofte Hospital, Denmark

    9 publications · 337 citations

    9

    h-index

  5. BS
    Barkur S. Shastry

    Oakland University, United States

    8 publications · 373 citations

    8

    h-index

1–5 of 688

Institutions

295

  1. Massachusetts General Hospital

    Boston, United States

    16 h-index

    47 publications

    3.9K citations

  2. Harvard University

    Cambridge, United States

    14 h-index

    46 publications

    3.9K citations

  3. Oakland University

    Rochester, United States

    11 h-index

    28 publications

    953 citations

  4. Smith-Kettlewell Eye Research Institute

    San Francisco, United States

    10 h-index

    38 publications

    908 citations

  5. Radboud University Nijmegen

    Nijmegen, The Netherlands

    8 h-index

    22 publications

    2.1K citations

  6. Beaumont Hospital, Royal Oak

    Royal Oak, United States

    8 h-index

    15 publications

    454 citations

  7. University of Oxford

    Oxford, United Kingdom

    8 h-index

    25 publications

    2.4K citations

  8. University of Zurich

    Zurich, Switzerland

    7 h-index

    18 publications

    1.1K citations

1–8 of 295

Venues

  1. PubMed

    Repository · 14 publications · 661 citations

    12

    h-index

  2. Human Molecular Genetics

    10 publications · 565 citations

    10

    h-index

  3. Archives of Ophthalmology

    9 publications · 485 citations

    9

    h-index

  4. Human Mutation

    9 publications · 316 citations

    9

    h-index

  5. Ophthalmic Genetics

    7 publications · 128 citations

    7

    h-index

1–5