1. Identification of the causative gene of a transparent phenotype of juvenile red sea bream Pagrus major
    Eitaro Sawayama et al, 2021, Heredity CrossRef
  2. Compound heterozygous mutations (p.T561M and c.2422delT) in the TPO gene associated with congenital hypothyroidism
    Shao-Gang Ma et al, 2016, Journal of Pediatric Endocrinology and Metabolism CrossRef
  3. Mutational Spectrum Analysis of Seven Genes Associated with Thyroid Dyshormonogenesis
    Xi Chen et al, 2018, International Journal of Endocrinology CrossRef
  4. DUOX Defects and Their Roles in Congenital Hypothyroidism
    Xavier De Deken et al, 2019, NADPH Oxidases CrossRef
  5. Novel genetic variants in theTPOgene cause congenital hypothyroidism
    Shao-Gang Ma et al, 2015, Scandinavian Journal of Clinical and Laboratory Investigation CrossRef
  6. Genetic disorders coupled to ROS deficiency
    Sharon O’Neill et al, 2015, Redox Biology CrossRef
  7. Congenital Defects of Thyroid Hormone Synthesis
    Helmut Grasberger et al, 2016, Genetic Diagnosis of Endocrine Disorders CrossRef
  8. Fetal Goitrous Hypothyroidism and Polyhydramnios in a Patient with Compound Heterozygous DUOXA2 Mutations
    Kanako Tanase-Nakao et al, 2018, Hormone Research in Paediatrics CrossRef
  9. Thyroid Dyshormonogenesis Due to Dual Oxidase Maturation Factor 2 Mutation as Non-Transient Status of Hypothyroidism
    Jisu Lee et al, 2022, International Journal of Thyroidology CrossRef
  10. Roles of DUOX-Mediated Hydrogen Peroxide in Metabolism, Host Defense, and Signaling
    Xavier De Deken et al, 2014, Antioxidants & Redox Signaling CrossRef
  11. Homozygous DUOXA2 mutation (p.Tyr138*) in a girl with congenital hypothyroidism and her apparently unaffected brother: Case report and review of the literature
    Chiho Sugisawa et al, 2017, Endocrine Journal CrossRef
  12. Compound heterozygous DUOX2 gene mutations (c.2335-1G>C/c.3264_3267delCAGC) associated with congenital hypothyroidism. Characterization of complex cryptic splice sites by minigene analysis
    Fiorella S. Belforte et al, 2016, Molecular and Cellular Endocrinology CrossRef
  13. DUOX1 and DUOX2, DUOXA1 and DUOXA2
    Françoise Miot et al, 2023, NADPH Oxidases Revisited: From Function to Structure CrossRef
  14. Defects of Thyroid Hormone Synthesis and Action
    Zeina C. Hannoush et al, 2017, Endocrinology and Metabolism Clinics of North America CrossRef
  15. Disorders of H 2 O 2 generation
    Marina Muzza et al, 2017, Best Practice & Research Clinical Endocrinology & Metabolism CrossRef
  16. Identification of Two Missense Mutations in DUOX1 (p.R1307Q) and DUOXA1 (p.R56W) That Can Cause Congenital Hypothyroidism Through Impairing H2O2 Generation
    Shiguo Liu et al, 2019, Frontiers in Endocrinology CrossRef
  17. The rs1991517 polymorphism is a genetic risk factor for congenital hypothyroidism
    Yedukondalu Kollati et al, 2020, 3 Biotech CrossRef
  18. Compound Heterozygous Mutations in theDUOX2/DUOXA2Genes Cause Congenital Hypothyroidism
    Xiao Zheng et al, 2017, Yonsei Medical Journal CrossRef
  19. Congenital Hypothyroidism
    Nana-Hawa Yayah Jones et al, 2018, Pediatric Endocrinology CrossRef