Records 1 - 4
| Screening of 23 candidate genes by next-generation sequencing of patients with permanent congenital hypothyroidism: novel variants in TG, TSHR, DUOX2, FOXE1, and SLC26A7.
Journal of endocrinological investigation 2021 Nov .
Acar S, Gürsoy S, Arslan G, Nalbanto?lu Ö, Hazan F, Köprülü Ö, Özkaya B, Özkan
| High frequency of mutations in 'dyshormonogenesis genes' in severe congenital hypothyroidism.
PloS one 2018 13 (9): e0204323.
Makretskaya Nina, Bezlepkina Olga, Kolodkina Anna, Kiyaev Alexey, Vasilyev Evgeny V, Petrov Vasily, Kalinenkova Svetlana, Malievsky Oleg, Dedov Ivan I, Tiulpakov Anato
| Characterization of mutations in the FOXE1 gene in a cohort of unrelated Malaysian patients with congenital hypothyroidism and thyroid dysgenesis.
Biochemical genetics 2010 Feb 48 (1-2): 141-51.
Kang In-Nee, Musa Maslinda, Harun Fatimah, Junit Sarni M
| Final diagnosis in children with subclinical hypothyroidism and mutation analysis of the thyroid peroxidase gene (TPO).
Journal of pediatric endocrinology & metabolism : JPEM 2009 Sep 22 (9): 845-51.
Turkkahraman Doga, Alper Ozgul M, Aydin Funda, Yildiz Akin, Pehlivanoglu Suray, Luleci Guven, Akcurin Sema, Bircan Iff