| European consensus statement on congenital hypogonadotropic hypogonadism—pathogenesis, diagnosis and treatment U Boehm, PM Bouloux, MT Dattani, N De Roux, C Dodé, L Dunkel, ... Nature Reviews Endocrinology 11 (9), 547-564, 2015 | 855 | 2015 |
| Increasing insulin resistance is associated with a decrease in Leydig cell testosterone secretion in men N Pitteloud, M Hardin, AA Dwyer, E Valassi, M Yialamas, D Elahi, ... The Journal of Clinical Endocrinology & Metabolism 90 (5), 2636-2641, 2005 | 647 | 2005 |
| Relationship between testosterone levels, insulin sensitivity, and mitochondrial function in men N Pitteloud, VK Mootha, AA Dwyer, M Hardin, H Lee, KF Eriksson, ... Diabetes care 28 (7), 1636-1642, 2005 | 570 | 2005 |
| Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice J Falardeau, WCJ Chung, A Beenken, T Raivio, L Plummer, Y Sidis, ... The Journal of clinical investigation 118 (8), 2822-2831, 2008 | 478 | 2008 |
| Reversal of idiopathic hypogonadotropic hypogonadism T Raivio, J Falardeau, A Dwyer, R Quinton, FJ Hayes, VA Hughes, ... New England Journal of Medicine 357 (9), 863-873, 2007 | 468 | 2007 |
| Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism N Pitteloud, R Quinton, S Pearce, T Raivio, J Acierno, A Dwyer, ... The Journal of clinical investigation 117 (2), 457-463, 2007 | 431 | 2007 |
| Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism N Pitteloud, JS Acierno Jr, A Meysing, AV Eliseenkova, J Ma, OA Ibrahimi, ... Proceedings of the National Academy of Sciences 103 (16), 6281-6286, 2006 | 416* | 2006 |
| Oligogenic basis of isolated gonadotropin-releasing hormone deficiency GP Sykiotis, L Plummer, VA Hughes, M Au, S Durrani, S Nayak-Young, ... Proceedings of the National Academy of Sciences 107 (34), 15140-15144, 2010 | 381 | 2010 |
| Clinical management of congenital hypogonadotropic hypogonadism J Young, C Xu, GE Papadakis, JS Acierno, L Maione, J Hietamäki, ... Endocrine reviews 40 (2), 669-710, 2019 | 311 | 2019 |
| Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism H Miraoui, AA Dwyer, GP Sykiotis, L Plummer, W Chung, B Feng, ... The American Journal of Human Genetics 92 (5), 725-743, 2013 | 309 | 2013 |
| Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism N Pitteloud, C Zhang, D Pignatelli, JD Li, T Raivio, LW Cole, L Plummer, ... Proceedings of the National Academy of Sciences 104 (44), 17447-17452, 2007 | 302 | 2007 |
| Prevalence, phenotypic spectrum, and modes of inheritance of gonadotropin-releasing hormone receptor mutations in idiopathic hypogonadotropic hypogonadism M Beranova, LMB Oliveira, GY Bedecarrats, E Schipani, M Vallejo, ... The Journal of Clinical Endocrinology & Metabolism 86 (4), 1580-1588, 2001 | 288 | 2001 |
| Mutations in Prokineticin 2 and Prokineticin receptor 2genes in Human Gonadotrophin-Releasing Hormone Deficiency: Molecular Genetics and Clinical Spectrum LW Cole, Y Sidis, CK Zhang, R Quinton, L Plummer, D Pignatelli, ... The Journal of Clinical Endocrinology & Metabolism 93 (9), 3551-3559, 2008 | 284 | 2008 |
| A genetic basis for functional hypothalamic amenorrhea LM Caronia, C Martin, CK Welt, GP Sykiotis, R Quinton, A Thambundit, ... New England Journal of Medicine 364 (3), 215-225, 2011 | 282 | 2011 |
| Acute sex steroid withdrawal reduces insulin sensitivity in healthy men with idiopathic hypogonadotropic hypogonadism MA Yialamas, AA Dwyer, E Hanley, H Lee, N Pitteloud, FJ Hayes The Journal of Clinical Endocrinology & Metabolism 92 (11), 4254-4259, 2007 | 282 | 2007 |
| Predictors of outcome of long-term GnRH therapy in men with idiopathic hypogonadotropic hypogonadism N Pitteloud, FJ Hayes, A Dwyer, PA Boepple, H Lee, WF Crowley Jr The Journal of Clinical Endocrinology & Metabolism 87 (9), 4128-4136, 2002 | 279 | 2002 |
| GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism YM Chan, A de Guillebon, M Lang-Muritano, L Plummer, F Cerrato, ... Proceedings of the National Academy of Sciences 106 (28), 11703-11708, 2009 | 253 | 2009 |
| The role of prior pubertal development, biochemical markers of testicular maturation, and genetics in elucidating the phenotypic heterogeneity of idiopathic hypogonadotropic … N Pitteloud, FJ Hayes, PA Boepple, S DeCruz, SB Seminara, ... The Journal of Clinical Endocrinology & Metabolism 87 (1), 152-160, 2002 | 248 | 2002 |
| CHD7 mutations in patients initially diagnosed with Kallmann syndrome – the clinical overlap with CHARGE syndrome MCJ Jongmans, CMA van Ravenswaaij‐Arts, N Pitteloud, T Ogata, N Sato, ... Clinical genetics 75 (1), 65-71, 2009 | 236 | 2009 |
| Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes N Pitteloud, A Meysing, R Quinton, JS Acierno Jr, AA Dwyer, L Plummer, ... Molecular and cellular endocrinology 254, 60-69, 2006 | 232 | 2006 |
