Concepedia

Cerulean Cataract

Cerulean Cataract is a congenital subtype of pediatric cataract characterized by blue-dot opacities in the lens nucleus or cortex, distinguished from other congenital cataracts by its specific granular morphology and often autosomal dominant inheritance pattern.

11

Publications

768

Citations

77

Authors

26

Institutions

Publications per year

2017–2026

1

Variants

Blue-dot Cataract

Parents

Publications

11

Autosomal Dominant Cerulean Cataract Is Associated with a Chain Termination Mutation in the Human  -Crystallin Gene CRYBB2

M. Litt, Rooque D Carrero-Valenzuela, Dante LaMorticella et al. · Human Molecular Genetics · 1997 · 241 citations

, , +17

Alzheimer's Disease Amyloid-β Links Lens and Brain Pathology in Down Syndrome

Juliet A. Moncaster, Roberto Pineda, Robert D. Moir et al. · PLoS ONE · 2010 · 139 citations · Full text

, , +17

Gamma-D crystallin gene (<i>CRYGD</i>) mutation causes autosomal dominant congenital cerulean cataracts

Emeline F. Nandrot, C. Slingsby, A.K. Basak et al. · Journal of Medical Genetics · 2003 · 97 citations · Full text

, , +13

A novel mutation in the DNA‐binding domain of <i>MAF</i> at 16q23.1 associated with autosomal dominant “cerulean cataract” in an Indian family

Vanita Vanita, Daljit Singh, Peter N. Robinson et al. · American Journal of Medical Genetics Part A · 2006 · 90 citations

, , +16

A Second Gene for Cerulean Cataracts Maps to the β Crystallin Region on Chromosome 22

P. L. Kramer, J. Yount, Thomas K. Mitchell et al. · Genomics · 1996 · 53 citations · Full text

, , +13

1–5 of 11

Authors

77

  1. BB
    Bouchra Benazzouz

    Université Ibn-Tofail, Morocco

    2 publications · 109 citations

    2

    h-index

  2. DL
    Dante LaMorticella

    Oregon Health & Science University, United States

    2 publications · 294 citations

    2

    h-index

  3. PL
    P. L. Kramer

    Oregon Health & Science University, United States

    2 publications · 294 citations

    2

    h-index

  4. IH
    Irene H. Maumenee

    Johns Hopkins University, United States

    2 publications · 294 citations

    2

    h-index

  5. ML
    M. Litt

    Oregon Health & Science University, United States

    2 publications · 294 citations

    2

    h-index

1–5 of 77

Institutions

26

  1. Université Ibn-Tofail

    Kenitra, Morocco

    2 h-index

    11 publications

    472 citations

  2. Oregon Health & Science University

    Portland, United States

    2 h-index

    11 publications

    1.5K citations

  3. Johns Hopkins University

    Baltimore, United States

    2 h-index

    4 publications

    588 citations

  4. Brigham and Women's Hospital

    Boston, United States

    2 h-index

    8 publications

    1K citations

  5. Inserm

    Paris, France

    2 h-index

    5 publications

    145 citations

  6. Ministère de l'Enseignement Supérieur, de la Recherche et de l'Espace

    Paris, France

    2 h-index

    6 publications

    242 citations

  7. Institut Necker Enfants Malades

    Paris, France

    2 h-index

    6 publications

    242 citations

  8. Guru Nanak Dev University

    Amritsar, India

    1 h-index

    2 publications

    180 citations

1–8 of 26

Venues

  1. PubMed

    Repository · 3 publications · 90 citations

    3

    h-index

  2. Ophthalmic Research

    1 publications · 20 citations

    1

    h-index

  3. Human Molecular Genetics

    1 publications · 241 citations

    1

    h-index

  4. PLoS ONE

    1 publications · 139 citations

    1

    h-index

  5. Journal of Medical Genetics

    JMG · 1 publications · 97 citations

    1

    h-index

1–5