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/

Fetal Goiter

Fetal Goiter

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 »

congenital hypothyroidism: becoming more frequent ?

congenital hypothyroidism: becoming more frequent ?

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 »

Variation by Ethnicity in the Prevalence of Congenital Thyroid Malformation

Variation by Ethnicity in the Prevalence of Congenital Thyroid Malformation

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.

Gene expression of ectopic thyroids

Gene expression of ectopic thyroids

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 »

Brain-Lung-Thyroid Syndrome

Brain-Lung-Thyroid Syndrome

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 »

Congenital malformation of the thyroid gland is not an environmental disease

Congenital malformation of the thyroid gland is not an environmental disease

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 »