| The GPR54 Gene as a Regulator of Puberty SB Seminara, S Messager, EE Chatzidaki, RR Thresher, JS Acierno Jr, ... New England Journal of Medicine 349 (17), 1614-1627, 2003 | 3055 | 2003 |
| Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel M Sun, E Goldin, S Stahl, JL Falardeau, JC Kennedy, JS Acierno Jr, ... Human molecular genetics 9 (17), 2471-2478, 2000 | 480 | 2000 |
| 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 | 427 | 2007 |
| 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 | 314 | 2019 |
| Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism N Pitteloud, JS Acierno, A Meysing, AV Eliseenkova, J Ma, OA Ibrahimi, ... Proceedings of the National Academy of Sciences 103 (16), 6281-6286, 2006 | 297 | 2006 |
| Vitamin D inhibition of prostate adenocarcinoma growth and metastasis in the Dunning rat prostate model system RH Getzenberg, BW Light, PE Lapco, BR Konety, AK Nangia, JS Acierno, ... Urology 50 (6), 999-1006, 1997 | 282 | 1997 |
| 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 | 229 | 2006 |
| Biotin-responsive basal ganglia disease maps to 2q36. 3 and is due to mutations in SLC19A3 WQ Zeng, E Al-Yamani, JS Acierno, S Slaugenhaupt, T Gillis, ... The American Journal of Human Genetics 77 (1), 16-26, 2005 | 226 | 2005 |
| A locus for autosomal dominant mitral valve prolapse on chromosome 11p15. 4 LA Freed, JS Acierno, D Dai, M Leyne, JE Marshall, F Nesta, RA Levine, ... The American Journal of Human Genetics 72 (6), 1551-1559, 2003 | 206 | 2003 |
| Reversible kallmann syndrome, delayed puberty, and isolated anosmia occurring in a single family with a mutation in the fibroblast growth factor receptor 1 gene N Pitteloud, JS Acierno Jr, AU Meysing, AA Dwyer, FJ Hayes, ... The Journal of Clinical Endocrinology & Metabolism 90 (3), 1317-1322, 2005 | 204 | 2005 |
| Familial schwannomatosis: exclusion of the NF2 locus as the germline event M MacCollin, C Willett, B Heinrich, LB Jacoby, JS Acierno Jr, A Perry, ... Neurology 60 (12), 1968-1974, 2003 | 160 | 2003 |
| Characterization of the human nasal embryonic LHRH factor gene, NELF, and a mutation screening among 65 patients with idiopathic hypogonadotropic hypogonadism (IHH) K Miura, JS Acierno, SB Seminara Journal of human genetics 49 (5), 265-268, 2004 | 154 | 2004 |
| Targeted genome screen of panic disorder and anxiety disorder proneness using homology to murine QTL regions JW Smoller, JS Acierno Jr, JF Rosenbaum, J Biederman, MH Pollack, ... American journal of medical genetics 105 (2), 195-206, 2001 | 119 | 2001 |
| Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures D Cassatella, SR Howard, JS Acierno, C Xu, GE Papadakis, FA Santoni, ... European journal of endocrinology 178 (4), 377-388, 2018 | 113 | 2018 |
| The role of vitamin D in normal prostate growth and differentiation BR Konety, GG Schwartz, JS Acierno Jr, MJ Becich, RH Getzenberg Cell Growth and Differentiation-Publication American Association for Cancer …, 1996 | 113 | 1996 |
| Mapping of the mucolipidosis type IV gene to chromosome 19p and definition of founder haplotypes SA Slaugenhaupt, JS Acierno Jr, LA Helbling, C Bove, E Goldin, G Bach, ... The American Journal of Human Genetics 65 (3), 773-778, 1999 | 93 | 1999 |
| KLB, encoding β‐Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism C Xu, A Messina, E Somm, H Miraoui, T Kinnunen, J Acierno Jr, ... EMBO molecular medicine 9 (10), 1379-1397, 2017 | 88 | 2017 |
| Hypogonadotropic hypogonadism and cerebellar ataxia: detailed phenotypic characterization of a large, extended kindred SB Seminara, JS Acierno Jr, NA Abdulwahid, WF Crowley Jr, ... The Journal of Clinical Endocrinology & Metabolism 87 (4), 1607-1612, 2002 | 78 | 2002 |
| GNRHR Mutations in a Woman with Idiopathic Hypogonadotropic Hypogonadism Highlight the Differential Sensitivity of Luteinizing Hormone and Follicle … AU Meysing, H Kanasaki, GY Bedecarrats, JS Acierno Jr, PM Conn, ... The Journal of Clinical Endocrinology & Metabolism 89 (7), 3189-3198, 2004 | 77 | 2004 |
| Defective AMH signaling disrupts GnRH neuron development and function and contributes to hypogonadotropic hypogonadism SA Malone, GE Papadakis, A Messina, NEH Mimouni, S Trova, ... Elife 8, e47198, 2019 | 70 | 2019 |
Nelly Pittelouduniversity Lausanne在 chuv.ch 的电子邮件经过验证
