Muzza, Marina

The Clinical and Molecular Characterization of Patients With Dyshormonogenic Congenital Hypothyroidism Reveals Specific Diagnostic Clues for DUOX2 Defects

Muzza, M., Rabbiosi, S., Vigone, M. C., Zamproni, I., Cirello, V., Maffini, M. A., Maruca, K., Schoenmakers, N., Beccaria, L., Gallo, F., et al. (2014) · The Journal of Clinical Endocrinology & Metabolism

Thyroid Disorders and TreatmentsGenomics and Rare Diseases

Cited by 83

Genetics and management of congenital hypothyroidism

Persani, L., Rurale, G., de Filippis, T., Galazzi, E., Muzza, M., & Fugazzola, L. (2018) · Best Practice & Research Clinical Endocrinology & Metabolism

Thyroid Disorders and TreatmentsGenomics and Rare Diseases

Cited by 82

Digenic DUOX1 and DUOX2 Mutations in Cases With Congenital Hypothyroidism

Aycan, Z., Cangul, H., Muzza, M., Bas, V. N., Fugazzola, L., Chatterjee, V. K., Persani, L., & Schoenmakers, N. (2017) · The Journal of Clinical Endocrinology & Metabolism

Thyroid Disorders and TreatmentsGenomics and Rare Diseases

Cited by 60

New genetics in congenital hypothyroidism

Stoupa, A., Kariyawasam, D., Muzza, M., de Filippis, T., Fugazzola, L., Polak, M., Persani, L., & Carré, A. (2021) · Endocrine

Thyroid Disorders and TreatmentsHead and Neck Anomalies

Cited by 59

DUOX2 / DUOXA2 Mutations Frequently Cause Congenital Hypothyroidism that Evades Detection on Newborn Screening in the United Kingdom

Peters, C., Nicholas, A. K., Schoenmakers, E., Lyons, G., Langham, S., Serra, E. G., Sebire, N. J., Muzza, M., Fugazzola, L., & Schoenmakers, N. (2019) · Thyroid®

Thyroid Disorders and TreatmentsGenomics and Rare Diseases

Cited by 57