Identification, functional analysis, prevalence and treatment of monocarboxylate transporter 8 (MCT8) mutations in a cohort of adult patients with mental retardation

Thyroid status in a large cohort of patients with mental retardation: the TOP-R (Thyroid Origin of Psychomotor Retardation) study

(2011) Willem Edward Visser et al.   CLINICAL ENDOCRINOLOGY

Distinct Roles of Deiodinases on the Phenotype of Mct8 Defect: A Comparison of Eight Different Mouse Genotypes

(2011) Xiao-Hui Liao et al.   ENDOCRINOLOGY

Monocarboxylate transporter 8 deficiency: altered thyroid morphology and persistent high triiodothyronine/thyroxine ratio after thyroidectomy

(2011) Eva K Wirth et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Impact of Monocarboxylate Transporter-8 Deficiency on the Hypothalamus-Pituitary-Thyroid Axis in Mice

(2010) Marija Trajkovic-Arsic et al.   ENDOCRINOLOGY

Mice deficient in MCT8 reveal a mechanism regulating thyroid hormone secretion

(2010) Caterina Di Cosmo et al.   JOURNAL OF CLINICAL INVESTIGATION

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

(2009) Patrick S Tarpey et al.   NATURE GENETICS

MCT8 mutation analysis and identification of the first female with Allan–Herndon–Dudley syndrome due to loss of MCT8 expression

(2008) Suzanna Gerarda Maria Frints et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

(2008) Dorien Lugtenberg et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Novel pathogenic mechanism suggested by ex vivo analysis of MCT8 (SLC16A2) mutations

(2008) W. Edward Visser et al.   HUMAN MUTATION

Beneficial Effects of Propylthiouracil plusl-Thyroxine Treatment in a Patient with a Mutation inMCT8

(2008) J. L. Wémeau et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Thyroid hormone transport in and out of cells

(2008) W. Edward Visser et al.   TRENDS IN ENDOCRINOLOGY AND METABOLISM