Associated Papers
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 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
Case Report: Functional Analysis and Neuropsychological Evaluation of Dyshormonogenetic Fetal Goiter in Siblings Caused by Novel Compound Hyterozygous TPO Gene Mutations.
Rodrigues TMB et al.
Frontiers in Endocrinology, 2021
Functional analysis of thyroid peroxidase gene mutations resulting in congenital hypothyroidism.
Zhao D et al.
Clinical Endocrinology, 2020
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
A Novel Homozygous Mutation of Thyroid Peroxidase Gene Abolishes a Disulfide Bond Leading to Congenital Hypothyroidism.
Yakou F et al.
International Journal of Endocrinology, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
A tailored approach to fusion transcript identification increases diagnosis of rare inherited disease.
Oliver GR et al.
Plos One, 2019
Mild thyroid peroxidase deficiency caused by TPO mutations with residual activity: Correlation between clinical phenotypes and enzymatic activity.
Narumi S et al.
Endocrine Journal, 2017
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
Segregation of S292F TPO gene mutation in three large Tunisian families with thyroid dyshormonogenesis: evidence of a founder effect.
Bougacha-Elleuch N et al.
European Journal of Pediatrics, 2015
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
[Mutation of thyroid peroxidase gene in 35 patients with congenital hypothyroidism].
Li HF et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2011
Thyroid peroxidase gene mutations causing congenital hypothyroidism in three Turkish families.
Ozbek MN et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2009
High prevalence of thyroid peroxidase gene mutations in patients with thyroid dyshormonogenesis.
Avbelj M et al.
European Journal of Endocrinology, 2007
Goitrous congenital hypothyroidism and hearing impairment associated with mutations in the TPO and SLC26A4/PDS genes.
Pfarr N et al.
The Journal of Clinical Endocrinology and Metabolism, 2006
Intrauterine therapy of goitrous hypothyroidism in a boy with a new compound heterozygous mutation (Y453D and C800R) in the thyroid peroxidase gene. A long-term follow-up.
Börgel K et al.
American Journal of Obstetrics and Gynecology, 2005