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Showing 1–5 of 5 results
Advanced filters: Author: Eloise Giabicani Clear advanced filters

  • Silver–Russell syndrome (SRS) is an imprinting disorder that causes prenatal and postnatal growth retardation. This Consensus Statement summarizes recommendations for clinical diagnosis, investigation and management of patients with SRS, including the use of growth hormone and gonadotropin-releasing hormone analogues.

    • Emma L. Wakeling
    • Frédéric Brioude
    • Irène Netchine
    ReviewsOpen Access
    Nature Reviews Endocrinology
    Volume: 13, P: 105-124

  • This Primer summarizes the molecular mechanisms of imprinting disorders, in addition to the diagnosis and treatment of these conditions. Moreover, this Primer provides an overview of future research avenues and the effect of these disorders on patient quality of life.

    • Thomas Eggermann
    • David Monk
    • Miriam Elbracht
    Reviews
    Nature Reviews Disease Primers
    Volume: 9, P: 1-19

  • Overgrowth syndromes are a heterogeneous group of rare disorders characterized by generalized or segmental excessive growth. This Review discusses the clinical and molecular diagnosis, tumour risk and recommendations for tumour screening for the most prevalent generalized and segmental overgrowth syndromes.

    • Frédéric Brioude
    • Annick Toutain
    • Irene Netchine
    Reviews
    Nature Reviews Endocrinology
    Volume: 15, P: 299-311