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Thyroid : Official Journal of the American Thyroid Association|May 25, 2022
A Novel Pathogenic Variant in PAX8 Leads to Familial Congenital HypothyroidismMonica Malheiros França, Lucy Reeve, Alexandra M Dumitrescu, et al.
Endocrinology|May 20, 2006
Tissue-specific thyroid hormone deprivation and excess in monocarboxylate transporter (mct) 8-deficient miceAlexandra M Dumitrescu, Xiao-Hui Liao, Roy E Weiss, et al.
Pediatrics|January 2, 2008
A novel monocarboxylate transporter 8 gene mutation as a cause of severe neonatal hypotonia and developmental delayAnastasios Papadimitriou, Alexandra Mihaela Dumitrescu, Antigone Papavasiliou, et al.
Thyroid : Official Journal of the American Thyroid Association|June 15, 2021
Novel DIO1 Gene Mutation Acting as Phenotype Modifier for Novel Compound Heterozygous TPO Gene Mutations Causing Congenital HypothyroidismAryel Furman, Zeina Hannoush, Francisco Barrera Echegoyen, et al.
The Journal of Clinical Endocrinology and Metabolism|January 15, 2002
Congenital secondary hypothyroidism caused by exon skipping due to a homozygous donor splice site mutation in the TSHbeta-subunit geneJoachim Pohlenz, Alexandra Dumitrescu, Ulrich Aumann, et al.
Plos One|December 7, 2019
Intracerebroventricular administration of the thyroid hormone analog TRIAC increases its brain content in the absence of MCT8Soledad Bárez-López, Carmen Grijota-Martínez, Xiao-Hui Liao, et al.
The Journal of Clinical Endocrinology and Metabolism|September 23, 2017
Prenatal Diagnosis of Resistance to Thyroid Hormone and Its Clinical ImplicationsTheodora Pappa, João Anselmo, Sunnee Mamanasiri, et al.
The Journal of Clinical Endocrinology and Metabolism|April 26, 2007
A familial thyrotropin (TSH) receptor mutation provides in vivo evidence that the inositol phosphates/Ca2+ cascade mediates TSH action on thyroid hormone synthesisHelmut Grasberger, Jacqueline Van Sande, Ahmad Hag-Dahood Mahameed, et al.
Endocrinology|June 6, 2009
A thyroid hormone analog with reduced dependence on the monocarboxylate transporter 8 for tissue transportCaterina Di Cosmo, Xiao-Hui Liao, Alexandra M Dumitrescu, et al.
The Journal of Clinical Endocrinology and Metabolism|March 4, 2011
A single copy of the recently identified dual oxidase maturation factor (DUOXA) 1 gene produces only mild transient hypothyroidism in a patient with a novel biallelic DUOXA2 mutation and monoallelic DUOXA1 deletionImge Hulur, Pia Hermanns, Claudia Nestoris, et al.
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