Fugazzola, Laura

Congenital Hypothyroidism: A 2020–2021 Consensus Guidelines Update—An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology

van Trotsenburg, P., Stoupa, A., Léger, J., Rohrer, T., Peters, C., Fugazzola, L., Cassio, A., Heinrichs, C., Beauloye, V., Pohlenz, J., et al. (2021) · Thyroid®

Thyroid Disorders and TreatmentsMetabolism and Genetic Disorders

Cited by 469

Congenital Hypothyroidism With Eutopic Thyroid Gland: Analysis of Clinical and Biochemical Features at Diagnosis and After Re-Evaluation

Rabbiosi, S., Vigone, M. C., Cortinovis, F., Zamproni, I., Fugazzola, L., Persani, L., Corbetta, C., Chiumello, G., & Weber, G. (2013) · The Journal of Clinical Endocrinology & Metabolism

Thyroid Disorders and TreatmentsHead and Neck Anomalies

Cited by 131

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

JAG1 Loss-Of-Function Variations as a Novel Predisposing Event in the Pathogenesis of Congenital Thyroid Defects

de Filippis, T., Marelli, F., Nebbia, G., Porazzi, P., Corbetta, S., Fugazzola, L., Gastaldi, R., Vigone, M. C., Biffanti, R., Frizziero, D., et al. (2016) · The Journal of Clinical Endocrinology & Metabolism

Thyroid Disorders and TreatmentsDevelopmental Biology and Gene Regulation

Cited by 70

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

Incidence of elevation of serum thyroid-stimulating hormone during controlled ovarian hyperstimulation for in vitro fertilization

Benaglia, L., Busnelli, A., Somigliana, E., Leonardi, M., Vannucchi, G., De Leo, S., Fugazzola, L., Ragni, G., & Fedele, L. (2014) · European Journal of Obstetrics & Gynecology and Reproductive Biology

Thyroid Disorders and TreatmentsReproductive Health and Technologies

Cited by 46

Primary adrenal insufficiency during lenvatinib or vandetanib and improvement of fatigue after cortisone acetate therapy

Colombo, C., De Leo, S., Di Stefano, M., Vannucchi, G., Persani, L., & Fugazzola, L. (2019) · The Journal of Clinical Endocrinology & Metabolism

Adrenal Hormones and DisordersThyroid Disorders and Treatments

Cited by 44