Concepedia

Nr5a1 Mutations

NR5A1 Mutations is a genetic alteration in the NR5A1 gene, a nuclear receptor transcription factor essential for adrenal and gonadal development, distinguished by its association with disorders of steroidogenesis and adrenal insufficiency.

78

Publications

4.4K

Citations

545

Authors

238

Institutions

Publications per year

2017–2026

20

Parents

Publications

78

Mutations in <i>NR5A1</i> Associated with Ovarian Insufficiency

Diana Lourenço, Raja Brauner, Lin Lin et al. · New England Journal of Medicine · 2009 · 389 citations · Full text

, , +17

Human Male Infertility Associated with Mutations in NR5A1 Encoding Steroidogenic Factor 1

Anu Bashamboo, Bruno Ferraz‐de‐Souza, Diana Lourenço et al. · The American Journal of Human Genetics · 2010 · 246 citations · Full text

, , +14

Apparently Normal Ovarian Differentiation in a Prepubertal Girl with Transcriptionally Inactive Steroidogenic Factor 1 (NR5A1/SF-1) and Adrenocortical Insufficiency

Anna Biason‐Lauber, Eugen J. Schoenle · The American Journal of Human Genetics · 2000 · 244 citations · Full text

, , +17

Analysis of DAX1 (NR0B1) and Steroidogenic Factor-1 (NR5A1) in Children and Adults with Primary Adrenal Failure: Ten Years’ Experience

Lin Lin, Wen-Xia Gu, Wing S. To et al. · The Journal of Clinical Endocrinology & Metabolism · 2006 · 218 citations · Full text

, , +17

Heterozygous Missense Mutations in Steroidogenic Factor 1 (SF1/Ad4BP, NR5A1) Are Associated with 46,XY Disorders of Sex Development with Normal Adrenal Function

Lin Lin, Pascal Philibert, Bruno Ferraz‐de‐Souza et al. · The Journal of Clinical Endocrinology & Metabolism · 2007 · 209 citations · Full text

, , +17

1–5 of 78

Authors

545

  1. JC
    John C. Achermann

    University College London, United Kingdom

    14 publications · 1.8K citations

    13

    h-index

  2. AB
    Anu Bashamboo

    Institut Pasteur, France

    10 publications · 1K citations

    10

    h-index

  3. KM
    Ken McElreavey

    Institut Pasteur, France

    8 publications · 973 citations

    8

    h-index

  4. OH
    Olaf Hiort

    University of Lübeck, Germany

    7 publications · 293 citations

    7

    h-index

  5. GG
    Gil Guerra‐Júnior

    Universidade Estadual de Campinas (UNICAMP), Brazil

    7 publications · 573 citations

    7

    h-index

1–5 of 545

Institutions

238

  1. University College London

    London, United Kingdom

    11 h-index

    37 publications

    6K citations

  2. Institut Pasteur

    Paris, France

    9 h-index

    43 publications

    5.5K citations

  3. Assistance Publique – Hôpitaux de Paris

    Paris, France

    8 h-index

    27 publications

    2.5K citations

  4. University of Lübeck

    Lübeck, Germany

    6 h-index

    21 publications

    761 citations

  5. Charité - Universitätsmedizin Berlin

    Berlin, Germany

    5 h-index

    26 publications

    2.5K citations

  6. Humboldt-Universität zu Berlin

    Berlin, Germany

    5 h-index

    25 publications

    2.4K citations

  7. National Center For Child Health and Development

    Tokyo, Japan

    5 h-index

    22 publications

    838 citations

  8. The University of Melbourne

    Melbourne, Australia

    5 h-index

    12 publications

    866 citations

1–8 of 238

Venues

  1. Human Mutation

    6 publications · 340 citations

    6

    h-index

  2. Fertility and Sterility

    5 publications · 217 citations

    5

    h-index

  3. PLoS ONE

    5 publications · 266 citations

    5

    h-index

  4. The Journal of Clinical Endocrinology & Metabolism

    JCEM · 5 publications · 657 citations

    5

    h-index

  5. Sexual Development

    4 publications · 117 citations

    4

    h-index

1–5