Concepedia

Segmental Mosaicism

Segmental Mosaicism is a form of genetic mosaicism in which a pathogenic variant is present in a distinct anatomical segment or region of the body due to postzygotic mutation confined to a specific cell lineage during embryonic development.

32

Publications

1.8K

Citations

214

Authors

85

Institutions

Publications per year

2017–2026

8

Parents

Publications

32

Detailed investigation into the cytogenetic constitution and pregnancy outcome of replacing mosaic blastocysts detected with the use of high-resolution next-generation sequencing

S. Munné, J Blazek, Michael J. Large et al. · Fertility and Sterility · 2017 · 283 citations · Full text

, , +17

Boundaries of gene conversion within the duplicated human alpha-globin genes. Concerted evolution by segmental recombination.

Alan M. Michelson, Stuart H. Orkin · Journal of Biological Chemistry · 1983 · 185 citations · Full text

, , +13

Mosaicism for ATP2A2 Mutations Causes Segmental Darier's Disease

Anavaj Sakuntabhai, Jittima Dhitavat, Alain Hovnanian et al. · Journal of Investigative Dermatology · 2000 · 163 citations · Full text

, , +9

Allelic loss underlies type 2 segmental Hailey-Hailey disease, providing molecular confirmation of a novel genetic concept

Pamela Poblete‐Gutiérrez, T. Wiederholt, Arne König et al. · Journal of Clinical Investigation · 2004 · 147 citations · Full text

, , +14

New Aspects of Cutaneous Mosaicism

Rudolf Happle · The Journal of Dermatology · 2002 · 127 citations

, , +16

1–5 of 32

Authors

214

  1. RH
    Rudolf Happle

    Philipps University of Marburg, Germany

    6 publications · 464 citations

    6

    h-index

  2. JF
    Jorge Frank

    Maastricht University Medical Centre, Netherlands

    3 publications · 171 citations

    3

    h-index

  3. PP
    Pamela Poblete‐Gutiérrez

    Maastricht University Medical Centre, Netherlands

    3 publications · 171 citations

    3

    h-index

  4. AK
    Arne König

    Philipps University of Marburg, Germany

    2 publications · 158 citations

    2

    h-index

  5. HF
    Hans F. Merk

    RWTH Aachen University, Germany

    2 publications · 158 citations

    2

    h-index

1–5 of 214

Institutions

85

  1. Philipps University of Marburg

    Marburg, Germany

    5 h-index

    7 publications

    511 citations

  2. University of Ferrara

    Ferrara, Italy

    2 h-index

    3 publications

    48 citations

  3. Westfälische Hochschule

    Gelsenkirchen, Germany

    2 h-index

    6 publications

    474 citations

  4. European Bioinformatics Institute

    Cambridge, United Kingdom

    1 h-index

    1 publications

    18 citations

  5. Radboud University Nijmegen

    Nijmegen, The Netherlands

    1 h-index

    1 publications

    23 citations

  6. Immunologie et Neurogénétique Expérimentales et Moléculaires

    Orléans, France

    1 h-index

    5 publications

    105 citations

  7. University of Zurich

    Zurich, Switzerland

    1 h-index

    1 publications

    23 citations

  8. Centre for Human Genetics

    Oxford, United Kingdom

    1 h-index

    3 publications

    489 citations

1–8 of 85

Venues

  1. Dermatology

    3 publications · 92 citations

    3

    h-index

  2. PubMed

    Repository · 3 publications · 38 citations

    3

    h-index

  3. Molecular Cytogenetics

    3 publications · 46 citations

    3

    h-index

  4. Fertility and Sterility

    2 publications · 367 citations

    2

    h-index

  5. Journal of Investigative Dermatology

    JID · 2 publications · 239 citations

    2

    h-index

1–5