Area of research
Endocrinology, Diabetes and Metabolism · Genetics
Research interest
Research interests include Thyroid Disorders and Treatments, Growth Hormone and Insulin-like Growth Factors, Genetics and Neurodevelopmental Disorders, and Thyroid Cancer Diagnosis and Treatment.
STR mutations on chromosome 15q cause thyrotropin resistance by activating a primate-specific enhancer of MIR7-2/MIR1179
Impaired T3 uptake and action in MCT8-deficient cerebral organoids underlie Allan-Herndon-Dudley syndrome
AAV9-MCT8 Delivery at Juvenile Stage Ameliorates Neurological and Behavioral Deficits in a Mouse Model of MCT8-Deficiency
Graves’ disease and papillary thyroid carcinoma: case report and literature review of a single academic center
Human Type 1 Iodothyronine Deiodinase ( <i>DIO1</i> ) Mutations Cause Abnormal Thyroid Hormone Metabolism
Prenatal Treatment of Thyroid Hormone Cell Membrane Transport Defect Caused by <i>MCT8</i> Gene Mutation
Clinical and Molecular Analysis in 2 Families With Novel Compound Heterozygous <i>SBP2</i> (<i>SECISBP2</i>) Mutations
Reduced Sensitivity to Thyroid Hormone as a Transgenerational Epigenetic Marker Transmitted Along the Human Male Line
Increased Prevalence of <i>TG</i> and <i>TPO</i> Mutations in Sudanese Children With Congenital Hypothyroidism
Congenital Hypothyroidism due to Oligogenic Mutations in Two Sudanese Families
A novel mutation in the TG gene (G2322S) causing congenital hypothyroidism in a Sudanese family: a case report
Fetal Exposure to High Maternal Thyroid Hormone Levels Causes Central Resistance to Thyroid Hormone in Adult Humans and Mice
Prenatal Diagnosis of Resistance to Thyroid Hormone and Its Clinical Implications
Thyroid Hormone Metabolism Defects in a Mouse Model of SBP2 Deficiency
An Essential Physiological Role for MCT8 in Bone in Male Mice
Adeno Associated Virus 9–Based Gene Therapy Delivers a Functional Monocarboxylate Transporter 8, Improving Thyroid Hormone Availability to the Brain of Mct8-Deficient Mice
Impaired Sensitivity to Thyroid Hormone: Defects of Transport, Metabolism and Action
2015cited by 24position: first
Classification and Proposed Nomenclature for Inherited Defects of Thyroid Hormone Action, Cell Transport, and Metabolism*
Classification and Proposed Nomenclature for Inherited Defects of Thyroid Hormone Action, Cell Transport, and Metabolism
Cerebral Cortex Hyperthyroidism of Newborn Mct8-Deficient Mice Transiently Suppressed by Lat2 Inactivation
A Novel Mutation in the <i>Albumin</i> Gene (R218S) Causing Familial Dysalbuminemic Hyperthyroxinemia in a Family of Bangladeshi Extraction
Changes in Thyroid Status During Perinatal Development of MCT8-Deficient Male Mice
Mct8-Deficient Mice Have Increased Energy Expenditure and Reduced Fat Mass That Is Abrogated by Normalization of Serum T3 Levels
Inherited defects in thyroid hormone cell-membrane transport and metabolism
Inherited defects of thyroid hormone-cell-membrane transport
The syndromes of reduced sensitivity to thyroid hormone
Diiodothyropropionic Acid (DITPA) in the Treatment of MCT8 Deficiency