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, Pfarr N, Vuissoz JM, Parma J, Vassart G, Biesterfeld S, Pohlenz J, Van Vliet G. Pseudodominant inheritance of goitrous congenital hypothyroidism caused by TPO mutations: molecular and in silico studies. J Clin Endocrinol Metab 2008; 93: 627-633. We reported a pedigree presenting with pseudodominant goitrous CH due to segregation of three different TPO … 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 »