Centre de Recherche
T 514 345-4931 poste 5032
Thyroid hormones have a crucial role in child development. In babies, lack of thyroid hormone is deleterious, especially for brain development, and babies who have abnormal thyroid glands are at risk for mental retardation. Newborn screening programs have been implemented to diagnose lack of thyroid hormone shortly after birth. In the majority of cases, the thyroid has not developed in the correct location and does not function properly. The reason why the thyroid gland does not attain its proper place in the neck is largely unknown. Our project aims to find the cause of abnormal thyroid gland development, in the hopes that information obtained can be applied to other, less easily treatable congenital malformations.
- Deladoëy J, Flück C, Buyukgebiz A, Kuhlmann BV, Eblé A, Hindmarsh PC, Wu W, Mullis PE, „Hot spot“ in the PROP1 gene responsible for combined pituitary hormone deficiency, J Clin Endocrinol Metab 84, 1645-1650, 1999.
- Deladoëy J, Stocker P, Mullis PE, Autosomal dominant GH deficiency due to an Arg183His GH-1 gene mutation: clinical and molecular evidence of impaired regulated GH secretion, J Clin Endocrinol Metab 86, 3941-3947, 2001.
- Deladoëy J, Bélanger N, Van Vliet G, Random Variability in Congenital Hypothyroidism from Thyroid Dysgenesis over 16 years in Quebec, J Clin Endocrinol Metab 92, 3158-3161, 2007.
- 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 93, 627-633, 2008.