Concepedia

Temple Syndrome

Temple Syndrome is a rare genomic imprinting disorder characterized by maternal uniparental disomy of chromosome 14 or epigenetic abnormalities in the imprinted region of chromosome 14q32, distinguished from other imprinting disorders by its specific association with growth retardation, hypotonia, early puberty, and developmental delays resulting from dysregulation of imprinted genes inherited from the mother.

35

Publications

1.4K

Citations

307

Authors

185

Institutions

Publications per year

2017–2026

20

Parents

Publications

35

Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases

Yiannis Ioannides, Oluwakemi Lokulo‐Sodipe, Deborah Mackay et al. · Journal of Medical Genetics · 2014 · 261 citations

, , +17

Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients

Masayo Kagami, Keisuke Nagasaki, Rika Kosaki et al. · Genetics in Medicine · 2017 · 144 citations · Full text

, , +16

Snord116-dependent diurnal rhythm of DNA methylation in mouse cortex

Rochelle L. Coulson, Dag H. Yasui, Keith W. Dunaway et al. · Nature Communications · 2018 · 74 citations · Full text

, , +17

Epimutations of the IG-DMR and the MEG3-DMR at the 14q32.2 imprinted region in two patients with Silver–Russell Syndrome-compatible phenotype

Masayo Kagami, Seiji Mizuno, Keiko Matsubara et al. · European Journal of Human Genetics · 2014 · 68 citations · Full text

, , +16

Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome

Sophie Geoffron, Walid Abi Habib, Sandra Chantot‐Bastaraud et al. · The Journal of Clinical Endocrinology & Metabolism · 2018 · 60 citations · Full text

, , +17

1–5 of 35

Authors

307

  1. MK
    Masayo Kagami

    National Center For Child Health and Development, Japan

    6 publications · 337 citations

    6

    h-index

  2. KM
    Keiko Matsubara

    National Center For Child Health and Development, Japan

    6 publications · 337 citations

    6

    h-index

  3. TO
    Tsutomu Ogata

    National Center For Child Health and Development, Japan

    6 publications · 337 citations

    6

    h-index

  4. MF
    Maki Fukami

    National Center For Child Health and Development, Japan

    6 publications · 337 citations

    6

    h-index

  5. KN
    Kazuhiko Nakabayashi

    National Center For Child Health and Development, Japan

    5 publications · 193 citations

    5

    h-index

1–5 of 307

Institutions

185

  1. University of Duisburg-Essen

    Essen, Germany

    7 h-index

    27 publications

    874 citations

  2. Hamamatsu University School of Medicine

    Hamamatsu, Japan

    6 h-index

    7 publications

    370 citations

  3. National Center For Child Health and Development

    Tokyo, Japan

    6 h-index

    48 publications

    2.6K citations

  4. Essen University Hospital

    Essen, Germany

    6 h-index

    24 publications

    797 citations

  5. University of Lübeck

    Lübeck, Germany

    5 h-index

    22 publications

    623 citations

  6. University Hospital Southampton NHS Foundation Trust

    Southampton, United Kingdom

    4 h-index

    13 publications

    973 citations

  7. Inserm

    Paris, France

    4 h-index

    31 publications

    1.5K citations

  8. RWTH Aachen University

    Aachen, Germany

    4 h-index

    11 publications

    292 citations

1–8 of 185

Venues

  1. American Journal of Medical Genetics Part A

    6 publications · 148 citations

    6

    h-index

  2. Journal of Medical Genetics

    JMG · 3 publications · 293 citations

    3

    h-index

  3. Clinical Epigenetics

    3 publications · 80 citations

    3

    h-index

  4. Epigenomics

    2 publications · 52 citations

    2

    h-index

  5. Clinical Genetics

    2 publications · 50 citations

    2

    h-index

1–5