Associated Papers
Genetic testing of PAX8 mutations associated with thyroid dysgenesis in Chinese congenital hypothyroidism patients.
Li M et al.
Endokrynologia Polska, 2020
Novel non-synonymous mutations of PAX8 in a cohort of Chinese with congenital hypothyroidism.
Qian F et al.
Chinese Medical Journal, 2019
Transient PAX8 Expression in Islets During Pregnancy Correlates With β-Cell Survival, Revealing a Novel Candidate Gene in Gestational Diabetes Mellitus.
Martin-Montalvo A et al.
Diabetes, 2019
A De novo PAX8 mutation in a Chinese child with congenital thyroid dysgenesis.
Zou H et al.
International Journal of Clinical and Experimental Pathology, 2015
Extreme phenotypic variability of thyroid dysgenesis in six new cases of congenital hypothyroidism due to PAX8 gene loss-of-function mutations.
Ramos HE et al.
European Journal of Endocrinology, 2014
Alternative 3' acceptor site in the exon 2 of human PAX8 gene resulting in the expression of unknown mRNA variant found in thyroid hemiagenesis and some types of cancers.
Szczepanek-Parulska E et al.
Acta Biochimica Polonica, 2013
Mutations in the gene encoding paired box domain (PAX8) are not a frequent cause of congenital hypothyroidism (CH) in Iranian patients with thyroid dysgenesis.
Mahjoubi F et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2010
Genetics and phenomics of hypothyroidism and thyroid dys- and agenesis due to PAX8 and TTF1 mutations.
Montanelli L et al.
Molecular and Cellular Endocrinology, 2010
Identification and characterization of four PAX8 rare sequence variants (p.T225M, p.L233L, p.G336S and p.A439A) in patients with congenital hypothyroidism and dysgenetic thyroid glands.
Esperante SA et al.
Clinical Endocrinology, 2008
Genetic analysis of the PAX8 gene in children with congenital hypothyroidism and dysgenetic or eutopic thyroid glands: identification of a novel sequence variant.
Tonacchera M et al.
Clinical Endocrinology, 2007
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