Concepedia

Lisch Nodules

Lisch Nodule is a benign hamartomatous melanocytic proliferation of the iris stroma, characterized by dome-shaped, pigmented nodules visible on slit-lamp examination, and serves as a key diagnostic criterion in neurofibromatosis type 1.

95

Publications

3.9K

Citations

539

Authors

238

Institutions

Publications per year

2017–2026

9

Variants

Iris Lisch Nodules

Parents

Publications

95

A clinical study of type 1 neurofibromatosis in north west England

Julie McGaughran, DianaC. Harris, Dian Donnai et al. · Journal of Medical Genetics · 1999 · 201 citations · Full text

, , +8

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation

Kitiwan Rojnueangnit, Jing Xie, Alicia Gomes et al. · Human Mutation · 2015 · 190 citations · Full text

, , +17

Lisch Nodules in Neurofibromatosis Type 1

Marie-Louise E. Lubs, Mislen S. Bauer, Maria E. Formas et al. · New England Journal of Medicine · 1991 · 177 citations · Full text

, , +9

Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1

Human Molecular Genetics · 1998 · 163 citations · Full text

, , +17

Diagnostic Outcome in Children With Multiple Cafe au Lait Spots

Bruce R. Korf · PEDIATRICS · 1992 · 158 citations

, , +11

1–5 of 95

Authors

539

  1. MU
    Meena Upadhyaya

    Cardiff University, United Kingdom

    5 publications · 413 citations

    5

    h-index

  2. DG
    D. Gareth Evans

    University of Manchester, United Kingdom

    4 publications · 311 citations

    4

    h-index

  3. RH
    R Harris

    St Mary's Hospital, United Kingdom

    3 publications · 232 citations

    3

    h-index

  4. EL
    Eric Legius

    KU Leuven, Belgium

    3 publications · 275 citations

    3

    h-index

  5. VN
    Valerie Newton

    University of Manchester, United Kingdom

    2 publications · 31 citations

    2

    h-index

1–5 of 539

Institutions

238

  1. Sapienza University of Rome

    Rome, Italy

    5 h-index

    21 publications

    612 citations

  2. St Mary's Hospital

    Manchester, United Kingdom

    4 h-index

    8 publications

    373 citations

  3. St. Mary's Hospital

    Portsmouth, United Kingdom

    4 h-index

    8 publications

    373 citations

  4. Istituti di Ricovero e Cura a Carattere Scientifico

    Rome, Italy

    4 h-index

    9 publications

    264 citations

  5. Mayo Clinic

    Rochester, United States

    3 h-index

    6 publications

    266 citations

  6. Cardiff University

    Cardiff, United Kingdom

    3 h-index

    6 publications

    203 citations

  7. KU Leuven

    Leuven, Belgium

    3 h-index

    8 publications

    537 citations

  8. Policlinico Umberto I

    Rome, Italy

    3 h-index

    15 publications

    370 citations

1–8 of 238

Venues

  1. PubMed

    Repository · 11 publications · 154 citations

    10

    h-index

  2. Human Mutation

    4 publications · 304 citations

    4

    h-index

  3. Journal of Medical Genetics

    JMG · 4 publications · 399 citations

    4

    h-index

  4. Clinical Genetics

    4 publications · 113 citations

    4

    h-index

  5. American Journal of Medical Genetics Part A

    3 publications · 147 citations

    3

    h-index

1–5