Persani, Luca

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

Central Hypothyroidism: Pathogenic, Diagnostic, and Therapeutic Challenges

Persani, L. (2012) · The Journal of Clinical Endocrinology & Metabolism

Thyroid Disorders and TreatmentsPituitary Gland Disorders and Treatments

Cited by 295

A 7‐year experience with low blood TSH cutoff levels for neonatal screening reveals an unsuspected frequency of congenital hypothyroidism (CH)

Corbetta, C., Weber, G., Cortinovis, F., Calebiro, D., Passoni, A., Vigone, M. C., Beck‐Peccoz, P., Chiumello, G., & Persani, L. (2009) · Clinical Endocrinology

Thyroid Disorders and TreatmentsMetabolism and Genetic Disorders

Cited by 247

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

Evaluation of the Adequacy of Levothyroxine Replacement Therapy in Patients with Central Hypothyroidism1

Ferretti, E., Persani, L., Jaffrain-Rea, M.-L., Giambona, S., Tamburrano, G., & Beck-Peccoz, P. (1999) · The Journal of Clinical Endocrinology & Metabolism

Thyroid Disorders and TreatmentsAdrenal Hormones and Disorders

Cited by 134

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

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

Variable biological activity of thyroid-stimulating hormone

Beck-Peccoz, P., & Persani, L. (1994) · European Journal of Endocrinology

Thyroid Disorders and TreatmentsGrowth Hormone and Insulin-like Growth Factors

Cited by 116

Metabolic syndrome induces inflammation and impairs gonadotropin-releasing hormone neurons in the preoptic area of the hypothalamus in rabbits

Morelli, A., Sarchielli, E., Comeglio, P., Filippi, S., Vignozzi, L., Marini, M., Rastrelli, G., Maneschi, E., Cellai, I., Persani, L., et al. (2014) · Molecular and Cellular Endocrinology

Hypothalamic control of reproductive hormonesRegulation of Appetite and Obesity

Cited by 107

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

Hypothalamic thyrotropin-releasing hormone and thyrotropin biological activity

PERSANI, L. (1998) · Thyroid

Thyroid Disorders and TreatmentsGlycosylation and Glycoproteins Research

Cited by 87

Central hypothyroidism

Lania, A., Persani, L., & Beck-Peccoz, P. (2008) · Pituitary

Thyroid Disorders and TreatmentsPituitary Gland Disorders and Treatments

Cited by 85

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

Classification and Proposed Nomenclature for Inherited Defects of Thyroid Hormone Action, Cell Transport, and Metabolism*

Refetoff, S., Bassett, J. H. D., Beck-Peccoz, P., Bernal, J., Brent, G., Chatterjee, K., De Groot, L. J., Dumitrescu, A. M., Jameson, J. L., Kopp, P. A., et al. (2014) · The Journal of Clinical Endocrinology & Metabolism

Thyroid Disorders and TreatmentsGenomics and Rare Diseases

Cited by 79

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

Circulating Thyrotropin Bioactivity in Sporadic Central Hypothyroidism

Persani, L. (2000) · Journal of Clinical Endocrinology & Metabolism

Thyroid Disorders and TreatmentsPituitary Gland Disorders and Treatments

Cited by 70

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

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

Factors influencing the levothyroxine dose in the hormone replacement therapy of primary hypothyroidism in adults

Caron, P., Grunenwald, S., Persani, L., Borson-Chazot, F., Leroy, R., & Duntas, L. (2022) · Reviews in Endocrine and Metabolic Disorders

Thyroid Disorders and TreatmentsThyroid and Parathyroid Surgery

Cited by 53

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