Fish to study the development of the thyroid

Functional Zebrafish Studies Based on Human Genotyping Point to Netrin-1 as a Link between Aberrant Cardiovascular Development and Thyroid Dysgenesis Endocrinology 2015 Careful phenotyping of patients combined with molecular and functional studies in zebrafish identify Netrin-1 as a potential shared genetic factor for cardiac and thyroid congenital defects. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4272402/

Low-income areas increase risks for diabetic children

Low-income areas increase risks for diabetic children

Deladoëy J, Henderson M, Geoffroy L. Linear association between household income and metabolic control in children with insulin-dependent diabetes mellitus despite free access to health care. J Clin Endocrinol Metab 2013 (accepted). Highlighted by an article in lay journal The Gazette (5 April 2013), the main English daily journal of the city of Montreal.   … Continue reading »

Gene modifiers explain differences in severity of disease

Gene modifiers explain differences in severity of disease

Hasselmann C, Deladoëy J, Vuissoz JM, Patry JM, Alirezaie N, Schwartzentruber J, Deal CL, Van Vliet G, Majewski J, Samuels M. Expanding the phenotypic spectrum of nicotinamide nucleotide transhydrogenase(NNT) mutations and using whole exome sequencing to discover potential disease modifiers. J Genomes Exomes 2013; 1: 19-30 (doi: 10.4137/JGE.S11378) open access at http://www.la-press.com

Treating Congenital Hypothyroidism in Infants and Children: which levothyroxine?

Treating Congenital Hypothyroidism in Infants and Children: which levothyroxine?

Deladoëy J and Van Vliet G. Treating Congenital Hypothyroidism: which levothyroxine? Nat Rev Endocrinol 2013 (Epub 5 March 2013) Importantly, parents of infants with congenital hypothyroidism must be reassured that, provided that their infant’s serum TSH concentration is not markedly raised after the first 2 weeks of treatment and that monitoring at regular intervals occurs, … Continue reading »