Castanet, Mireille

Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans

Schoenmakers, E., Agostini, M., Mitchell, C., Schoenmakers, N., Papp, L., Rajanayagam, O., Padidela, R., Ceron-Gutierrez, L., Doffinger, R., Prevosto, C., et al. (2010) · Journal of Clinical Investigation

Selenium in Biological SystemsOrganoselenium and organotellurium chemistry

Cited by 315

Nineteen Years of National Screening for Congenital Hypothyroidism: Familial Cases with Thyroid Dysgenesis Suggest the Involvement of Genetic Factors

Castanet, M., Polak, M., Bonaïti-Pellié, C., Lyonnet, S., Czernichow, P., & Léger, J. (2001) · The Journal of Clinical Endocrinology & Metabolism

Thyroid Disorders and TreatmentsHead and Neck Anomalies

Cited by 240

Predictors of Autoimmune Hyperthyroidism Relapse in Children after Discontinuation of Antithyroid Drug Treatment

Kaguelidou, F., Alberti, C., Castanet, M., Guitteny, M.-A., Czernichow, P., & Léger, J. (2008) · The Journal of Clinical Endocrinology & Metabolism

Thyroid Disorders and TreatmentsOphthalmology and Eye Disorders

Cited by 173

FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta

Doyard, M., Bacrot, S., Huber, C., Di Rocco, M., Goldenberg, A., Aglan, M. S., Brunelle, P., Temtamy, S., Michot, C., Otaify, G. A., et al. (2018) · Journal of Medical Genetics

Connective tissue disorders researchGenomics and Rare Diseases

Cited by 75

X chromosome gene dosage as a determinant of congenital malformations and of age-related comorbidity risk in patients with Turner syndrome, from childhood to early adulthood

Fiot, E., Zénaty, D., Boizeau, P., Haignere, J., Dos Santos, S., Léger, J., _, _., _, _., Carel, J. C., Cabrol, S., et al. (2019) · European Journal of Endocrinology

Genetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesSexual Differentiation and Disorders

Cited by 48

New Cases of Isolated Congenital Central Hypothyroidism Due to Homozygous Thyrotropin Beta Gene Mutations: A Pitfall to Neonatal Screening

Ramos, H. E., Labedan, I., Carré, A., Castanet, M., Guemas, I., Tron, E., Madhi, F., Delacourt, C., Maciel, R. M. B., & Polak, M. (2010) · Thyroid

Thyroid Disorders and TreatmentsGenomics and Rare Diseases

Cited by 27