Concepedia

Ectodermal Dysplasia Diagnostics

Ectodermal Dysplasia Diagnostics is a specialized medical diagnostic framework that systematically identifies and characterizes the clinical, genetic, and molecular manifestations of ectodermal dysplasias to differentiate them from other developmental disorders.

52

Publications

2K

Citations

183

Authors

85

Institutions

Publications per year

2017–2026

2

Parents

Publications

52

Identification of a New Splice Form of the EDA1 Gene Permits Detection of Nearly All X-Linked Hypohidrotic Ectodermal Dysplasia Mutations

Alex W. Monreal, Jonathan Zonana, Betsy Ferguson · The American Journal of Human Genetics · 1998 · 212 citations · Full text

, , +11

Early prosthetic treatment of patients with ectodermal dysplasia: A clinical report

I Tarján, K Gábris, Noémi Rózsa · Journal of Prosthetic Dentistry · 2005 · 113 citations

, , +14

Symptomatology of patients with oligodontia

Y. Schalk-van der Weide, F. A. Beemer, Jorge Faber et al. · Journal of Oral Rehabilitation · 1994 · 113 citations

, , +14

Prevalence and prevention of severe complications of hypohidrotic ectodermal dysplasia in infancy

Gert Blüschke, Kai‐Dietrich Nüsken, Holm Schneider · Early Human Development · 2010 · 94 citations

, , +8

Genomic Amplification of the Human Plakophilin 1 Gene and Detection of a New Mutation in Ectodermal Dysplasia/Skin Fragility Syndrome

Neil V. Whittock, Robin A.J. Eady, John A. McGrath et al. · Journal of Investigative Dermatology · 2000 · 77 citations · Full text

, , +16

1–5 of 52

Authors

183

  1. JA
    John A. McGrath

    St Thomas' Hospital, United Kingdom

    5 publications · 234 citations

    5

    h-index

  2. HS
    Holm Schneider

    Friedrich-Alexander-Universität Erlangen-Nürnberg, Germany

    4 publications · 187 citations

    4

    h-index

  3. RA
    Robin A.J. Eady

    St Thomas' Hospital, United Kingdom

    3 publications · 138 citations

    3

    h-index

  4. NV
    Neil V. Whittock

    St Thomas' Hospital, United Kingdom

    3 publications · 135 citations

    3

    h-index

  5. SJ
    Susan J. Pickering

    University of Cambridge, United Kingdom

    2 publications · 58 citations

    2

    h-index

1–5 of 183

Institutions

85

  1. St Thomas' Hospital

    London, United Kingdom

    5 h-index

    27 publications

    1K citations

  2. Oregon Health & Science University

    Portland, United States

    4 h-index

    15 publications

    1K citations

  3. Inserm

    Paris, France

    4 h-index

    8 publications

    251 citations

  4. King's College Hospital

    London, United Kingdom

    3 h-index

    9 publications

    354 citations

  5. King's College London

    London, United Kingdom

    2 h-index

    8 publications

    525 citations

  6. Johns Hopkins Medicine

    Baltimore, United States

    2 h-index

    2 publications

    85 citations

  7. Universitätsklinikum Erlangen

    Erlangen, Germany

    2 h-index

    4 publications

    284 citations

  8. Dicle University

    Diyarbakır, Türkiye

    2 h-index

    5 publications

    216 citations

1–8 of 85

Venues

  1. PubMed

    Repository · 10 publications · 257 citations

    10

    h-index

  2. The Journal of Pediatrics

    3 publications · 98 citations

    3

    h-index

  3. British Journal of Dermatology

    3 publications · 106 citations

    3

    h-index

  4. Prenatal Diagnosis

    3 publications · 103 citations

    3

    h-index

  5. Journal of Medical Genetics

    JMG · 2 publications · 67 citations

    2

    h-index

1–5