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Showing 1–14 of 14 results
Advanced filters: Author: Mehul T. Dattani Clear advanced filters

  • Daniel Bernard, Jan Wit, Mehul Dattani, Krishna Chatterjee and colleagues show that mutations in IGSF1 cause a new X-linked syndrome characterized by central hypothyroidism and testicular enlargement. Their findings implicate IGSF1 as a positive regulator of thyrotropin-releasing hormone signaling in the anterior pituitary.

    • Yu Sun
    • Beata Bak
    • Daniel J Bernard
    Research
    Nature Genetics
    Volume: 44, P: 1375-1381

  • The past 10 years have seen substantial advances in many areas of paediatric endocrinology. Major progress has been made in our understanding of the aetiology of many disorders with the advent of next-generation sequencing. Furthermore, the introduction of novel therapies has revolutionized clinical management.

    • Mehul T. Dattani
    News & Views
    Nature Reviews Endocrinology
    Volume: 11, P: 638-639

  • Mutations in components of the MAP kinase pathway are associated with a group of syndromes known as RASopathies. Here, the authors identify gain-of-function mutations in BRAF in patients with RASopathies and congenital hypopituitarisms.  This article demonstrates a central role for BRAF in the development of the hypothalamo-pituitary axis leading to endocrine deficiencies in patients with RASopathies.

    • Angelica Gualtieri
    • Nikolina Kyprianou
    • Carles Gaston-Massuet
    ResearchOpen Access
    Nature Communications
    Volume: 12, P: 1-18

  • Isolated growth hormone deficiency is the most common pituitary hormone deficiency and can originate from congenital or acquired causes, although the majority of cases are idiopathic. This Review summarizes currently available evidence on the genetic factors involved in isolated growth hormone deficiency, and highlights diagnostic challenges and novel advances in treatment.

    • Kyriaki S. Alatzoglou
    • Mehul T. Dattani
    Reviews
    Nature Reviews Endocrinology
    Volume: 6, P: 562-576

    • Emma A Webb
    • Mehul T Dattani
    Research
    European Journal of Human Genetics
    Volume: 18, P: 393-397

  • Congenital hypogonadotropic hypogonadism (CHH)—a rare disorder caused by deficient production, secretion or action of gonadotropin-releasing hormone—results in an absence of puberty and infertility. Here, Ulrich Boehm and colleagues summarize approaches for the diagnosis and treatment of CHH in light of recent discoveries. This Consensus Statement differs from existing guidelines for the treatment of hypogonadism as it focuses exclusively on CHH.

    • Ulrich Boehm
    • Pierre-Marc Bouloux
    • Jacques Young
    ReviewsOpen Access
    Nature Reviews Endocrinology
    Volume: 11, P: 547-564

  • Biosynthetic human growth hormone (GH) is now used to treat GH deficiency and promote growth in conditions such as Turner syndrome, intrauterine growth restriction, chronic renal failure and idiopathic short stature. The net effect in these conditions is less than in GH deficiency. Vigilance for long-term complications of GH use is essential.

    • Peter C Hindmarsh
    • Mehul T Dattani
    Reviews
    Nature Clinical Practice Endocrinology & Metabolism
    Volume: 2, P: 260-268

  • Here, Chow and colleagues discuss the endocrine manifestations of mitochondrial diseases, a group of multisystem disorders characterized by great clinical, biochemical and genetic heterogeneity. The authors describe the clinical features, genetic causes and pathological mechanisms underlying these diseases, the understanding of which will be key to developing innovative therapies for these patients.

    • Jasmine Chow
    • Joyeeta Rahman
    • Shamima Rahman
    Reviews
    Nature Reviews Endocrinology
    Volume: 13, P: 92-104

  • Time-series transcriptomic analysis investigates sex differences in human fetal brain development between 7.5 and 17 weeks post conception.

    • Federica Buonocore
    • Jenifer P. Suntharalingham
    • John C. Achermann
    ResearchOpen Access
    Communications Biology
    Volume: 8, P: 1-14