Bonomi, Marco

2018 European Thyroid Association (ETA) Guidelines on the Diagnosis and Management of Central Hypothyroidism

Persani, L., Brabant, G., Dattani, M., Bonomi, M., Feldt-Rasmussen, U., Fliers, E., Gruters, A., Maiter, D., Schoenmakers, N., & van Trotsenburg, A. S. P. (2018) · European Thyroid Journal

Thyroid Disorders and TreatmentsPituitary Gland Disorders and Treatments

Cited by 222

Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement

Sun, Y., Bak, B., Schoenmakers, N., van Trotsenburg, A. S. P., Oostdijk, W., Voshol, P., Cambridge, E., White, J. K., le Tissier, P., Gharavy, S. N. M., et al. (2012) · Nature Genetics

Thyroid Disorders and TreatmentsHypothalamic control of reproductive hormones

Cited by 217

A frequent oligogenic involvement in congenital hypothyroidism

de Filippis, T., Gelmini, G., Paraboschi, E., Vigone, M. C., Di Frenna, M., Marelli, F., Bonomi, M., Cassio, A., Larizza, D., Moro, M., et al. (2017) · Human Molecular Genetics

Genomics and Rare DiseasesThyroid Disorders and Treatments

Cited by 145

A Family with Complete Resistance to Thyrotropin-Releasing Hormone

Bonomi, M., Busnelli, M., Beck-Peccoz, P., Costanzo, D., Antonica, F., Dolci, C., Pilotta, A., Buzi, F., & Persani, L. (2009) · New England Journal of Medicine

Thyroid Disorders and TreatmentsHypothalamic control of reproductive hormones

Cited by 122

IGSF1 Deficiency: Lessons From an Extensive Case Series and Recommendations for Clinical Management

Joustra, S. D., Heinen, C. A., Schoenmakers, N., Bonomi, M., Ballieux, B. E. P. B., Turgeon, M.-O., Bernard, D. J., Fliers, E., van Trotsenburg, A. S. P., Losekoot, M., et al. (2016) · The Journal of Clinical Endocrinology & Metabolism

Immunodeficiency and Autoimmune DisordersThyroid Disorders and Treatments

Cited by 91

Hyperplastic Pituitary Gland, High Serum Glycoprotein Hormone -Subunit, and Variable Circulating Thyrotropin (TSH) Levels as Hallmark of Central Hypothyroidism due to Mutations of the TSH Gene

Bonomi, M. (2001) · Journal of Clinical Endocrinology & Metabolism

Thyroid Disorders and TreatmentsPituitary Gland Disorders and Treatments

Cited by 71

The diagnosis and management of central hypothyroidism in 2018

Persani, L., Cangiano, B., & Bonomi, M. (2019) · Endocrine Connections

Thyroid Disorders and TreatmentsPituitary Gland Disorders and Treatments

Cited by 64

The multiple genetic causes of central hypothyroidism

Persani, L., & Bonomi, M. (2017) · Best Practice & Research Clinical Endocrinology & Metabolism

Thyroid Disorders and TreatmentsPituitary Gland Disorders and Treatments

Cited by 46

A novel IGSF 1 mutation in a large Irish kindred highlights the need for familial screening in the IGSF 1 deficiency syndrome

Roche, E. F., McGowan, A., Koulouri, O., Turgeon, M., Nicholas, A. K., Heffernan, E., El‐Khairi, R., Abid, N., Lyons, G., Halsall, D., et al. (2018) · Clinical Endocrinology

Thyroid Disorders and TreatmentsGenomics and Rare Diseases

Cited by 29

Switch to restoration therapy in a testosterone treated central hypogonadism with erythrocytosis

Cangiano, B., Cacciatore, C., Persani, L., & Bonomi, M. (2017) · Endocrinology, Diabetes & Metabolism Case Reports

Hormonal and reproductive studiesHypothalamic control of reproductive hormones

Cited by 8