Associated Papers
Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.
Dumont M et al.
Cancers, 2022
35884425 (PubMed )
Supplement: cancers-14-03363-s001.zip › Table_S4-final_16052022.xlsx › Table_4B
Identification and analyzes of DUOX2 mutations in two familial congenital hypothyroidism cases.
Li L et al.
Endocrine, 2021
Next-Generation Sequencing Analysis Reveals Frequent Familial Origin and Oligogenism in Congenital Hypothyroidism With Dyshormonogenesis.
Oliver-Petit I et al.
Frontiers in Endocrinology, 2021
Complicated Relationship between Genetic Mutations and Phenotypic Characteristics in Transient and Permanent Congenital Hypothyroidism: Analysis of Pooled Literature Data.
Long W et al.
International Journal of Endocrinology, 2020
32565793 (PubMed )
Supplement: 6808517.f1.zip › 6808517.f1 › supplement_table_1.xlsx › Supplement_Table_1
Genetics of Gland-in-situ or Hypoplastic Congenital Hypothyroidism in Macedonia.
Zdraveska N et al.
Frontiers in Endocrinology, 2020
Neonatal Screening for Congenital Hypothyroidism: What Can We Learn From Discordant Twins?
Medda E et al.
The Journal of Clinical Endocrinology and Metabolism, 2019
Wide Spectrum of DUOX2 Deficiency: From Life-Threatening Compressive Goiter in Infancy to Lifelong Euthyroidism.
Dufort G et al.
Thyroid : Official Journal of the American Thyroid Association, 2019
Disorders of H2O2 generation.
Muzza M et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2017
Natural course of congenital hypothyroidism by dual oxidase 2 mutations from the neonatal period through puberty.
Maruo Y et al.
European Journal of Endocrinology, 2016
The clinical and molecular characterization of patients with dyshormonogenic congenital hypothyroidism reveals specific diagnostic clues for DUOX2 defects.
Muzza M et al.
The Journal of Clinical Endocrinology and Metabolism, 2014
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