Associated Papers
Analysis of exome data in a UK cohort of 603 patients with syndromic orofacial clefting identifies causal molecular pathways.
Wilson K et al.
Human Molecular Genetics, 2023
Adult Thyroid Outcomes of Congenital Hypothyroidism.
Sugisawa C et al.
Thyroid : Official Journal of the American Thyroid Association, 2023
Functional analysis of PAX8 variants identified in patients with congenital hypothyroidism in situ.
Batjargal K et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2022
Phenotypic Variability of Patients With PAX8 Variants Presenting With Congenital Hypothyroidism and Eutopic Thyroid.
Camats N et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.
Zeng B et al.
Frontiers in Oncology, 2021
Congenital Hypothyroidism Due to Truncating PAX8 Mutations: A Case Series and Molecular Function Studies.
Iwahashi-Odano M et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
Novel non-synonymous mutations of PAX8 in a cohort of Chinese with congenital hypothyroidism.
Qian F et al.
Chinese Medical Journal, 2019
Systematic alanine scanning of PAX8 paired domain reveals functional importance of the N-subdomain.
Iwahashi M et al.
Journal of Molecular Endocrinology, 2019
Newborn Screening and Molecular Profile of Congenital Hypothyroidism in a Chinese Population.
Yu B et al.
Frontiers in Genetics, 2018
Identification and characterization of novel PAX8 mutations in Congenital Hypothyroidism(CH) in a Chinese population.
Liu S et al.
Oncotarget, 2017
Two cases of thyroid dysgenesis caused by different novel PAX8 mutations in the DNA-binding region: in vitro studies reveal different pathogenic mechanisms.
Hermanns P et al.
Thyroid : Official Journal of the American Thyroid Association, 2013
Functional characterization of four novel PAX8 mutations causing congenital hypothyroidism: new evidence for haploinsufficiency as a disease mechanism.
Narumi S et al.
European Journal of Endocrinology, 2012