Associated Papers
Genetic Variants in Early-Onset Inflammatory Bowel Disease: Monogenic Causes and Clinical Implications.
Demirtas Guner D et al.
Children (basel, Switzerland), 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
39969324 (PubMed )
Supplement: medi-103-e41064-s001.xlsx › S2
Patients with Thyroid Dyshormonogenesis and DUOX2 Variants: Molecular and Clinical Description and Genotype-Phenotype Correlation.
Baz-Redón N et al.
International Journal of Molecular Sciences, 2024
Screening of 23 candidate genes by next-generation sequencing of patients with permanent congenital hypothyroidism: novel variants in TG, TSHR, DUOX2, FOXE1, and SLC26A7.
Acar S et al.
Journal of Endocrinological Investigation, 2022
Analysis of Worldwide Carrier Frequency and Predicted Genetic Prevalence of Autosomal Recessive Congenital Hypothyroidism Based on a General Population Database.
Park KS
Genes, 2021
Identification and analyzes of DUOX2 mutations in two familial congenital hypothyroidism cases.
Li L et al.
Endocrine, 2021
Genotype and phenotype correlation in a cohort of Chinese congenital hypothyroidism patients with DUOX2 mutations.
Zheng Z et al.
Annals of Translational Medicine, 2020
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
Genetic and functional analysis of two missense DUOX2 mutations in congenital hypothyroidism and goiter.
Liu S et al.
Oncotarget, 2018
Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ.
Nicholas AK et al.
The Journal of Clinical Endocrinology and Metabolism, 2016
Genomic Landscape Survey Identifies SRSF1 as a Key Oncodriver in Small Cell Lung Cancer.
Jiang L et al.
Plos Genetics, 2016
27093186 (PubMed )
Supplement: pgen.1005895.s019.xlsx › Sheet1
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