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 »
Stoppa-Vaucher S, Van Vliet G, Deladoëy J. Discovery of a fetal goiter on prenatal ultrasound in women treated for Graves’ disease: First, do not harm. Thyroid 2011; 21: 931. This article reports on the monitoring of a pregnant woman whose 19-week-old fetus presented a goiter revealed by ultrasound. The mother’s thyroid function was normal, whereas … Continue reading »
Deladoëy J, Ruel J, Giguère Y, Van Vliet G. Is the incidence of congenital hypothyroidism really increasing? A 20-year retrospective population-based study in Québec. J Clin Endocrinol Metab 2011; 96: 2422–2429. Highlighted by an editorial (J Clin Endocrinol Metab 2011; 96: 2395–2397). Induced a change in screening protocol in Quebec (higher threshold for 2nd test … 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.
Abu-Khudir R, Paquette J, Lefort A, Libert F, Chanoine JP, Vassart G, Deladoëy J. Transcriptome, Methylome and Genomic Variations Analysis of Ectopic Thyroid Glands. PLoS ONE 2010; 5(10): e13420 Highlighted by the Target Intelligence Service (TIS), a database used by pharmaceutical companies to identify groundbreaking research of relevance for their own work on potential drug … Continue reading »
Maquet E, Costagliola S, Parma J, Christophe-Hobertus C, Oligny LL, Fournet JC, Robitaille Y, Vuissoz JM, Payot A, Laberge S, Vassart G, Van Vliet G, Deladoëy J. Lethal respiratory failure and mild primary hypothyroidism in a term girl with a de novo heterozygous mutation in the TITF1/NKX2.1 gene. J Clin Endocrinol Metab 2009; 94: 197-203. … Continue reading »
Deladoëy J, Bélanger N, Van Vliet G. Random Variability in Congenital Hypothyroidism from Thyroid Dysgenesis over 16 years in Quebec. J Clin Endocrinol Metab 2007; 92: 3158-3161. Cited in the Yearbook of Pediatric Endocrinology 2008 (Karger). Only random variability was observed in the monthly and yearly incidences of congenital hypothyroidism from thyroid dysgenesis (CHTD) over … Continue reading »