Concepedia

Thyroid Dysgenesis

Thyroid Dysgenesis is a congenital developmental disorder characterized by the abnormal formation of the thyroid gland, including its absence, ectopic location, or incomplete development, leading to impaired thyroid hormone production in infancy.

273

Publications

13.6K

Citations

1.4K

Authors

519

Institutions

Publications per year

2017–2026

45

Parents

Publications

273

PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis

Paolo Emidio Macchia, Paola Lapi, Heiko Krude et al. · Nature Genetics · 1998 · 502 citations

, , +16

Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia

Roderick Clifton‐Bligh, John M. Wentworth, Peter Heinz et al. · Nature Genetics · 1998 · 429 citations

, , +17

A mouse model for hereditary thyroid dysgenesis and cleft palate

Mario De Felice, Catherine E. Ovitt, Elio Biffali et al. · Nature Genetics · 1998 · 337 citations

, , +16

A 7‐year experience with low blood TSH cutoff levels for neonatal screening reveals an unsuspected frequency of congenital hypothyroidism (CH)

Carlo Corbetta, Giovanna Weber, Francesca Cortinovis et al. · Clinical Endocrinology · 2009 · 248 citations

, , +17

Is the Incidence of Congenital Hypothyroidism Really Increasing? A 20-Year Retrospective Population-Based Study in Québec

Johnny Deladoëy, Jean Ruel, Yves Giguère et al. · The Journal of Clinical Endocrinology & Metabolism · 2011 · 233 citations · Full text

, , +17

1–5 of 273

Authors

1.4K

  1. GV
    Guy Van Vliet

    Université de Montréal, Canada

    16 publications · 1.2K citations

    15

    h-index

  2. JP
    Joachim Pohlenz

    Johannes Gutenberg University Mainz, Germany

    14 publications · 675 citations

    13

    h-index

  3. SR
    Samuel Refetoff

    University of Chicago, United States

    11 publications · 758 citations

    11

    h-index

  4. MP
    Michel Polak

    Université Paris Cité, France

    11 publications · 904 citations

    11

    h-index

  5. JL
    Juliane Léger

    Hôpital Robert-Debré, France

    9 publications · 631 citations

    9

    h-index

1–5 of 1.4K

Institutions

519

  1. Inserm

    Paris, France

    18 h-index

    112 publications

    8.1K citations

  2. Université de Montréal

    Montreal, Canada

    15 h-index

    36 publications

    2.2K citations

  3. Centre Hospitalier Universitaire Sainte-Justine

    Montreal, Canada

    11 h-index

    30 publications

    1.5K citations

  4. Hôpital Necker-Enfants Malades

    Paris, France

    11 h-index

    40 publications

    2.4K citations

  5. Johannes Gutenberg University Mainz

    Mainz, Germany

    11 h-index

    31 publications

    1.6K citations

  6. University of Chicago

    Chicago, United States

    11 h-index

    25 publications

    1.9K citations

  7. Hôpital Robert-Debré

    Paris, France

    10 h-index

    24 publications

    1.6K citations

  8. Université Paris Cité

    Paris, France

    9 h-index

    61 publications

    3.1K citations

1–8 of 519

Venues

  1. The Journal of Clinical Endocrinology & Metabolism

    JCEM · 51 publications · 4.1K citations

    38

    h-index

  2. Thyroid

    18 publications · 649 citations

    15

    h-index

  3. PubMed

    Repository · 18 publications · 377 citations

    13

    h-index

  4. 12

    h-index

  5. European Journal of Endocrinology

    EJE · 10 publications · 605 citations

    10

    h-index

1–5