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/
Our main subject is thyroid disease in children, but we are also interested in all endocrine diseases in children, such as cortisol deficiency or type 1 diabetes: Samuels ME, Gallo-Payet N, Pinard S, Hasselman C, Magne F, Patry L, Chouinard L, Schwartzentruber J, René P, Sawyer N, Bouvier M, Djemli A, Delvin E, Huot C, … Continue reading »
Role for tissue-dependent methylation differences in the expression of FOXE1 in non-tumoral thyroid glands (JCEM 2014) The main outcome of the present study supports the concept that DNA methylation plays a role in the differential expression of the thyroid transcription factor FOXE1 in normal leukocytes (cells that do not express FOXE1) and in the thyroid, … Continue reading »
Sharkia M, Michaud S, Berthier MT, Giguère Y, Stewart L, Deladoëy J, Deal CL, Van Vliet G, Chanoine JP. Thyroid Function from Birth to Adolescence in Prader-Willi Syndrome. J Pediatr 2013 (Epub 29 April 2013)
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 »
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
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 »
Samuels ME, Gallo-Payet N, Pinard S, Hasselman C, Magne F, Patry L, Chouinard L, Schwartzentruber J, René P, Sawyer N, Bouvier M, Djemli A, Delvin E, Huot C, Eugene D,Deal CL, Van Vliet G, Majewski J, Deladoëy J. Bioinactive ACTH Causing Glucocorticoid Deficiency. J Clin Endocrinol Metab 2013; 98: 736-742. Highlighted by an article in … Continue reading »
Stoppa-Vaucher S, Van Vliet G, Deladoëy J. Variation by Ethnicity in the Prevalence of Congenital Hypothyroidism due to Thyroid Dysgenesis. Thyroid 2011; 21(1):13-8. Thyroid dysgenesis is less prevalent in Blacks and more prevalent in Caucasians. Blacks being more genetically diverse, this suggests oligogenic mechanisms accounting for thyroid dysgenesis.
Stoppa-Vaucher S, Lapointe A, Turpin S, Rydlewski C, Vassart G, Deladoëy J. Ectopic Thyroid Gland causing Dysphonia: Imaging and Molecular Studies. J Clin Endocrinol Metab 2010; 95: 4509-4510. Selected case report for the book Diagnostic Dilemmas published in 2011 by the Endocrine Society.