All Stories

  1. Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism

    Article • JCI Insight, October 2018, American Society for Clinical Investigation

    Nadia Schoenmakers

  2. A novel IGSF1 mutation in a large Irish kindred highlights the need for familial screening in the IGSF1 deficiency syndrome

    Article • Clinical Endocrinology, October 2018, Wiley

    Professor Mehul T Dattani, Nadia Schoenmakers

  3. Digenic DUOX1 and DUOX2 Mutations in Cases With Congenital Hypothyroidism

    Article • The Journal of Clinical Endocrinology & Metabolism, June 2017, Endocrine Society

    Nadia Schoenmakers

  4. Intrauterine death following intraamniotic triiodothyronine and thyroxine therapy for fetal goitrous hypothyroidism associated with polyhydramnios and caused by a thyroglobulin mutation

    Article • Endocrinology Diabetes and Metabolism Case Reports, June 2017, Bioscientifica

    Nadia Schoenmakers

  5. Intrafamilial Phenotypic Variability and Consequences of Non-Compliance with Treatment in Congenital Adrenal Hyperplasia and Congenital Hypothyroidism within a Single Family


    Article • Hormone Research in Paediatrics, March 2017, Karger Publishers

    Nadia Schoenmakers

  6. Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ

    Article • The Journal of Clinical Endocrinology & Metabolism, December 2016, Endocrine Society

    Nadia Schoenmakers

  7. Frequent occurrence of DUOX2 and DUOXA2 mutations in cases with borderline bloodspot screening TSH who develop 'True' congenital hypothyroidism

    Article • Endocrine Abstracts, November 2016, Bioscientifica

    Nadia Schoenmakers

  8. Frequent Occurrence of DUOX2 and DUOXA2 Mutations in Cases with Borderline Bloodspot Screening TSH who Develop 'True' Congenital Hypothyroidism

    Article • Endocrine Abstracts, October 2016, Bioscientifica

    Nadia Schoenmakers

  9. Molecular spectrum of TSHβ subunit gene defects in central hypothyroidism in the UK and Ireland

    Article • Clinical Endocrinology, August 2016, Wiley

    Nadia Schoenmakers

  10. A Novel Thyrotropin-Releasing Hormone Receptor Missense Mutation (P81R) in Central Congenital Hypothyroidism

    Article • The Journal of Clinical Endocrinology & Metabolism, March 2016, Endocrine Society

    Nadia Schoenmakers

  11. Mutation in human selenocysteine transfer RNA selectively disrupts selenoprotein synthesis

    Article • Journal of Clinical Investigation, February 2016, American Society for Clinical Investigation

    Nadia Schoenmakers

  12. Biochemical, radiological, and genetic characterization of congenital hypothyroidism in Abu Dhabi, United Arab Emirates

    Article • Journal of Pediatric Endocrinology and Metabolism, January 2016, De Gruyter

    Nadia Schoenmakers

  13. Mutations in Humans That Adversely Affect the Selenoprotein Synthesis Pathway

    Article • January 2016, Springer Science + Business Media

    Nadia Schoenmakers

  14. A novel, missense, mutation (P81R) in the TRH receptor gene in congenital central hypothyroidism

    Article • Endocrine Abstracts, November 2015, Bioscientifica

    Nadia Schoenmakers

  15. A novel, missense, mutation (P81R) in the TRH receptor gene in congenital central hypothyroidism

    Article • Endocrine Abstracts, October 2015, Bioscientifica

    Nadia Schoenmakers

  16. Investigating the genetic architecture of gland-in-situ congenital hypothyroidism by comprehensive screening of eight known causative genes

    Article • Endocrine Abstracts, October 2015, Bioscientifica

    Nadia Schoenmakers

  17. Recent advances in central congenital hypothyroidism

    Article • Journal of Endocrinology, September 2015, Bioscientifica

    Nadia Schoenmakers

  18. Mutations in SECISBP2

    Article • July 2015, Taylor & Francis

    Nadia Schoenmakers

  19. Thyroid gland: TSHR mutations and subclinical congenital hypothyroidism

    Article • Nature Reviews Endocrinology, February 2015, Nature

    Nadia Schoenmakers

  20. Congenital central hypothyroidism due to a TSHB mutation with uniparental inheritance

    Article • Endocrine Abstracts, October 2014, Bioscientifica

    Nadia Schoenmakers

  21. Resistance to thyroid hormone caused by a mutation in thyroid hormone receptor (TR)α1 and TRα2: clinical, biochemical, and genetic analyses of three related patients

    Article • The Lancet Diabetes & Endocrinology, August 2014, Elsevier

    Nadia Schoenmakers

  22. A Novel Albumin Gene Mutation (R222I) in Familial Dysalbuminemic Hyperthyroxinemia

    Article • The Journal of Clinical Endocrinology & Metabolism, July 2014, Endocrine Society

    Nadia Schoenmakers

  23. Neurocognitive and CNS abnormalities in humans with defective thyroid receptor [alpha]

    Article • Endocrine Abstracts, March 2014, Bioscientifica

    Nadia Schoenmakers

  24. Autoimmune thyroid disease in the presence of resistance to thyroid hormone or TSH-secreting pituitary tumour: a diagnostic challenge

    Article • Endocrine Abstracts, March 2014, Bioscientifica

    Nadia Schoenmakers

  25. A deletion including exon 2 of the TSHR gene is associated with thyroid dysgenesis and severe congenital hypothyroidism

    Article • Journal of Pediatric Endocrinology and Metabolism, January 2014, De Gruyter

    Nadia Schoenmakers

  26. An Adult Female With Resistance to Thyroid Hormone Mediated by Defective Thyroid Hormone Receptor α

    Article • The Journal of Clinical Endocrinology & Metabolism, November 2013, Endocrine Society

    Nadia Schoenmakers

  27. Resistance to thyroid hormone mediated by defective thyroid hormone receptor alpha

    Article • Biochimica et Biophysica Acta (BBA) - General Subjects, July 2013, Elsevier

    Nadia Schoenmakers

  28. Thyroid dyshormonogenesis is mainly caused byTPOmutations in consanguineous community

    Article • Clinical Endocrinology, May 2013, Wiley

    Korcan Demir, Nadia Schoenmakers

  29. A Mutation in the Thyroid Hormone Receptor Alpha Gene

    Article • New England Journal of Medicine, January 2012, New England Journal of Medicine (NEJM/MMS)

    Nadia Schoenmakers

  30. Resistance to thyroid hormone is associated with raised energy expenditure, muscle mitochondrial uncoupling, and hyperphagia

    Article • Journal of Clinical Investigation, April 2010, American Society for Clinical Investigation

    Nadia Schoenmakers, George R. Cowgill Professor of Medicine and Physiology Gerald I Shulman