Panudda Srichomkwun

Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism

Hakan Cangül, Xiao-Hui Liao, Erik Schoenmakers et al. · JCI Insight · 2018 · 73 citations · Full text

Medicine, Endocrinology, Genetics +15

Fetal Exposure to High Maternal Thyroid Hormone Levels Causes Central Resistance to Thyroid Hormone in Adult Humans and Mice

Panudda Srichomkwun, João Anselmo, Xiao-Hui Liao et al. · The Journal of Clinical Endocrinology & Metabolism · 2017 · 36 citations · Full text

Medicine, Endocrinology, Genetics +17

<i>DUOX2</i> Gene Mutation Manifesting as Resistance to Thyrotropin Phenotype

Panudda Srichomkwun, Junta Takamatsu, Deborah A. Nickerson et al. · Thyroid · 2016 · 25 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

STR mutations on chromosome 15q cause thyrotropin resistance by activating a primate-specific enhancer of MIR7-2/MIR1179

Helmut Grasberger, Alexandra M. Dumitrescu, Xiao-Hui Liao et al. · Nature Genetics · 2024 · 24 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

A Novel Thyroid Hormone Receptor Beta Gene Mutation (G251V) in a Thai Patient with Resistance to Thyroid Hormone Coexisting with Pituitary Incidentaloma

Chutintorn Sriphrapradang, Panudda Srichomkwun, Samuel Refetoff et al. · Thyroid · 2016 · 21 citations

Medicine, Endocrinology, Genetics +17