Concepedia

Gnrhr Mutations

GNRHR Mutations is a genetic disorder construct characterized by inactivating mutations in the gonadotropin-releasing hormone receptor gene, leading to impaired signal transduction and resulting in normosmic idiopathic hypogonadotropic hypogonadism with disrupted pubertal development.

201

Publications

15.1K

Citations

1K

Authors

429

Institutions

Publications per year

2017–2026

26

Parents

Publications

201

Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure

Kristiina Aittomäki, JoséLuis Dieguez Lucena, Pirjo Pakarinen et al. · Cell · 1995 · 980 citations · Full text

, , +14

A <i>GPR54</i> -Activating Mutation in a Patient with Central Precocious Puberty

Milena Gurgel Teles, Suzy D.C. Bianco, Vinícius Nahime Brito et al. · New England Journal of Medicine · 2008 · 567 citations · Full text

, , +17

A Family with Hypogonadotropic Hypogonadism and Mutations in the Gonadotropin-Releasing Hormone Receptor

Nicolás de Roux, Jacques Young, Micheline Misrahi et al. · New England Journal of Medicine · 1997 · 528 citations · Full text

, , +14

Central Precocious Puberty Caused by Mutations in the Imprinted Gene <i>MKRN3</i>

Ana Paula Abreu, Andrew Dauber, Delanie B. Macedo et al. · New England Journal of Medicine · 2013 · 525 citations · Full text

, , +16

Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice

John Falardeau, W. C. Chung, Andrew Beenken et al. · Journal of Clinical Investigation · 2008 · 393 citations · Full text

, , +17

1–5 of 201

Authors

1K

  1. SB
    Stephanie B. Seminara

    Massachusetts General Hospital, United States

    23 publications · 3.4K citations

    22

    h-index

  2. WF
    William F. Crowley

    Massachusetts General Hospital, United States

    23 publications · 2.8K citations

    22

    h-index

  3. NP
    Nelly Pitteloud

    University of Lausanne, Switzerland

    21 publications · 3.1K citations

    20

    h-index

  4. LP
    Lacey Plummer

    Massachusetts General Hospital, United States

    18 publications · 2.3K citations

    17

    h-index

  5. JE
    Janet E. Hall

    Massachusetts General Hospital, United States

    15 publications · 2.4K citations

    14

    h-index

1–5 of 1K

Institutions

429

  1. Massachusetts General Hospital

    Boston, United States

    31 h-index

    192 publications

    29K citations

  2. Harvard University

    Cambridge, United States

    22 h-index

    96 publications

    13.6K citations

  3. Inserm

    Paris, France

    21 h-index

    75 publications

    8.6K citations

  4. Newcastle University

    Newcastle upon Tyne, United Kingdom

    15 h-index

    41 publications

    3.8K citations

  5. Brigham and Women's Hospital

    Boston, United States

    14 h-index

    43 publications

    8.7K citations

  6. Université Paris Cité

    Paris, France

    14 h-index

    22 publications

    1.6K citations

  7. Oregon National Primate Research Center

    Beaverton, United States

    13 h-index

    47 publications

    3.3K citations

  8. Oregon Health & Science University

    Portland, United States

    12 h-index

    27 publications

    1.7K citations

1–8 of 429

Venues

  1. The Journal of Clinical Endocrinology & Metabolism

    JCEM · 53 publications · 4.1K citations

    41

    h-index

  2. European Journal of Endocrinology

    EJE · 10 publications · 558 citations

    10

    h-index

  3. Fertility and Sterility

    10 publications · 425 citations

    10

    h-index

  4. Clinical Endocrinology

    8 publications · 224 citations

    8

    h-index

  5. Endocrinology

    7 publications · 300 citations

    7

    h-index

1–5