| Klinefelter syndrome (KS): genetics, clinical phenotype and hypogonadism M Bonomi, V Rochira, D Pasquali, G Balercia, EA Jannini, A Ferlin Journal of endocrinological investigation 40, 123-134, 2017 | 360 | 2017 |
| Glycoprotein hormone receptors: link between receptor homodimerization and negative cooperativity E Urizar, L Montanelli, T Loy, M Bonomi, S Swillens, C Gales, M Bouvier, ... The EMBO journal 24 (11), 1954-1964, 2005 | 319 | 2005 |
| Tyrosine sulfation is required for agonist recognition by glycoprotein hormone receptors S Costagliola, V Panneels, M Bonomi, J Koch, MC Many, G Smits, ... The EMBO journal, 2002 | 255 | 2002 |
| Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement Y Sun, B Bak, N Schoenmakers, ASP van Trotsenburg, W Oostdijk, ... Nature genetics 44 (12), 1375-1381, 2012 | 237 | 2012 |
| Genetics of primary ovarian insufficiency R Rossetti, I Ferrari, M Bonomi, L Persani Clinical genetics 91 (2), 183-198, 2017 | 227 | 2017 |
| 2018 European Thyroid Association (ETA) guidelines on the diagnosis and management of central hypothyroidism L Persani, G Brabant, M Dattani, M Bonomi, U Feldt-Rasmussen, E Fliers, ... European thyroid journal 7 (5), 225-237, 2018 | 209 | 2018 |
| Primary ovarian insufficiency: X chromosome defects and autoimmunity L Persani, R Rossetti, C Cacciatore, M Bonomi Journal of autoimmunity 33 (1), 35-41, 2009 | 150 | 2009 |
| A frequent oligogenic involvement in congenital hypothyroidism T de Filippis, G Gelmini, E Paraboschi, MC Vigone, M Di Frenna, F Marelli, ... Human Molecular Genetics 26 (13), 2507-2514, 2017 | 133 | 2017 |
| A family with complete resistance to thyrotropin-releasing hormone M Bonomi, M Busnelli, P Beck-Peccoz, D Costanzo, F Antonica, C Dolci, ... New England Journal of Medicine 360 (7), 731-734, 2009 | 128 | 2009 |
| Genetics and phenomics of hypothyroidism due to TSH resistance L Persani, D Calebiro, D Cordella, G Weber, G Gelmini, D Libri, ... Molecular and cellular endocrinology 322 (1-2), 72-82, 2010 | 120 | 2010 |
| The IGSF1 deficiency syndrome: characteristics of male and female patients SD Joustra, N Schoenmakers, L Persani, I Campi, M Bonomi, G Radetti, ... The Journal of Clinical Endocrinology & Metabolism 98 (12), 4942-4952, 2013 | 113 | 2013 |
| Hyperplastic Pituitary Gland, High Serum Glycoprotein Hormoneα-Subunit, and Variable Circulating Thyrotropin (TSH) Levels as Hallmark of Central Hypothyroidism due to Mutations … M Bonomi, MC Proverbio, G Weber, G Chiumello, P Beck-Peccoz, ... The Journal of Clinical Endocrinology & Metabolism 86 (4), 1600-1604, 2001 | 113 | 2001 |
| Activator protein-1 and smad proteins synergistically regulate human follicle-stimulating hormone β-promoter activity Y Wang, J Fortin, P Lamba, M Bonomi, L Persani, MS Roberson, ... Endocrinology 149 (11), 5577-5591, 2008 | 111 | 2008 |
| Characteristics of a nationwide cohort of patients presenting with isolated hypogonadotropic hypogonadism (IHH) M Bonomi, V Vezzoli, C Krausz, F Guizzardi, S Vezzani, M Simoni, I Bassi, ... European Journal of Endocrinology 178 (1), 23-32, 2018 | 98 | 2018 |
| Modulation of ligand selectivity associated with activation of the transmembrane region of the human follitropin receptor L Montanelli, JJJ Van Durme, G Smits, M Bonomi, P Rodien, EJ Devor, ... Molecular Endocrinology 18 (8), 2061-2073, 2004 | 98 | 2004 |
| IGSF1 deficiency: lessons from an extensive case series and recommendations for clinical management SD Joustra, CA Heinen, N Schoenmakers, M Bonomi, B Ballieux, ... The Journal of Clinical Endocrinology & Metabolism 101 (4), 1627-1636, 2016 | 96 | 2016 |
| Increased loss of the Y chromosome in peripheral blood cells in male patients with autoimmune thyroiditis L Persani, M Bonomi, A Lleo, S Pasini, F Civardi, I Bianchi, I Campi, ... Journal of autoimmunity 38 (2-3), J193-J196, 2012 | 94 | 2012 |
| Structural differences in the hinge region of the glycoprotein hormone receptors: evidence from the sulfated tyrosine residues M Bonomi, M Busnelli, L Persani, G Vassart, S Costagliola Molecular endocrinology 20 (12), 3351-3363, 2006 | 94 | 2006 |
| Generation of a mouse monoclonal TSH receptor antibody with stimulating activity S Costagliola, JDF Franssen, M Bonomi, E Urizar, M Willnich, ... Biochemical and biophysical research communications 299 (5), 891-896, 2002 | 94 | 2002 |
| Syndromes of hormone resistance in the hypothalamic–pituitary–thyroid axis P Beck-Peccoz, L Persani, D Calebiro, M Bonomi, D Mannavola, I Campi Best Practice & Research Clinical Endocrinology & Metabolism 20 (4), 529-546, 2006 | 92 | 2006 |
