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Last Name
Institution

Stephanie Beth Seminara, M.D.

TitleAssociate Professor of Medicine
InstitutionMassachusetts General Hospital
DepartmentMedicine
AddressMassachusetts General Hospital
Reproductive Endocrinology, BHX 505
55 Fruit St
Boston MA 02114
Phone617/724-8304
Fax617/726-5357

 Mentoring 
 completed student projects
Rare Variants in Genes Implicated in GnRH Deficiency in Constitutional Delay of Puberty Patients
Summer, 05/21/12 - 07/27/12

 Bibliographic 
 selected publications
Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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  1. Abel BS, Shaw ND, Brown JM, Adams JM, Alati T, Martin KA, Pitteloud N, Seminara SB, Plummer L, Pignatelli D, Crowley WF, Welt CK, Hall JE. Responsiveness to a physiological regimen of GnRH therapy and relation to genotype in women with isolated hypogonadotropic hypogonadism. J Clin Endocrinol Metab. 2013 Feb; 98(2):E206-16.
    View in: PubMed
  2. Silveira LG, Latronico AC, Seminara SB. Kisspeptin and clinical disorders. Adv Exp Med Biol. 2013; 784:187-99.
    View in: PubMed
  3. Tusset C, Noel SD, Trarbach EB, Silveira LF, Jorge AA, Brito VN, Cukier P, Seminara SB, Mendonça BB, Kaiser UB, Latronico AC. Mutational analysis of TAC3 and TACR3 genes in patients with idiopathic central pubertal disorders. Arq Bras Endocrinol Metabol. 2012 Dec; 56(9):646-52.
    View in: PubMed
  4. George JT, Seminara SB. Kisspeptin and the hypothalamic control of reproduction: lessons from the human. Endocrinology. 2012 Nov; 153(11):5130-6.
    View in: PubMed
  5. Gianetti E, Hall JE, Au MG, Kaiser UB, Quinton R, Stewart JA, Metzger DL, Pitteloud N, Mericq V, Merino PM, Levitsky LL, Izatt L, Lang-Muritano M, Fujimoto VY, Dluhy RG, Chase ML, Crowley WF, Plummer L, Seminara SB. When genetic load does not correlate with phenotypic spectrum: lessons from the GnRH receptor (GNRHR). J Clin Endocrinol Metab. 2012 Sep; 97(9):E1798-807.
    View in: PubMed
  6. Chan YM, Butler JP, Sidhoum VF, Pinnell NE, Seminara SB. Kisspeptin administration to women: a window into endogenous kisspeptin secretion and GnRH responsiveness across the menstrual cycle. J Clin Endocrinol Metab. 2012 Aug; 97(8):E1458-67.
    View in: PubMed
  7. Yang JJ, Caligioni CS, Chan YM, Seminara SB. Uncovering novel reproductive defects in neurokinin B receptor null mice: closing the gap between mice and men. Endocrinology. 2012 Mar; 153(3):1498-508.
    View in: PubMed
  8. Lewkowitz-Shpuntoff HM, Hughes VA, Plummer L, Au MG, Doty RL, Seminara SB, Chan YM, Pitteloud N, Crowley WF, Balasubramanian R. Olfactory phenotypic spectrum in idiopathic hypogonadotropic hypogonadism: pathophysiological and genetic implications. J Clin Endocrinol Metab. 2012 Jan; 97(1):E136-44.
    View in: PubMed
  9. Chan YM, Broder-Fingert S, Paraschos S, Lapatto R, Au M, Hughes V, Bianco SD, Min L, Plummer L, Cerrato F, De Guillebon A, Wu IH, Wahab F, Dwyer A, Kirsch S, Quinton R, Cheetham T, Ozata M, Ten S, Chanoine JP, Pitteloud N, Martin KA, Schiffmann R, Van der Kamp HJ, Nader S, Hall JE, Kaiser UB, Seminara SB. GnRH-deficient phenotypes in humans and mice with heterozygous variants in KISS1/Kiss1. J Clin Endocrinol Metab. 2011 Nov; 96(11):E1771-81.
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  10. Ramaswamy S, Seminara SB, Plant TM. Evidence from the agonadal juvenile male rhesus monkey (Macaca mulatta) for the view that the action of neurokinin B to trigger gonadotropin-releasing hormone release is upstream from the kisspeptin receptor. Neuroendocrinology. 2011; 94(3):237-45.
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  11. Tornberg J, Sykiotis GP, Keefe K, Plummer L, Hoang X, Hall JE, Quinton R, Seminara SB, Hughes V, Van Vliet G, Van Uum S, Crowley WF, Habuchi H, Kimata K, Pitteloud N, Bülow HE. Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism. Proc Natl Acad Sci U S A. 2011 Jul 12; 108(28):11524-9.
    View in: PubMed
  12. Wahab F, Quinton R, Seminara SB. The kisspeptin signaling pathway and its role in human isolated GnRH deficiency. Mol Cell Endocrinol. 2011 Oct 22; 346(1-2):29-36.
    View in: PubMed
  13. Chan YM, Butler JP, Pinnell NE, Pralong FP, Crowley WF, Ren C, Chan KK, Seminara SB. Kisspeptin resets the hypothalamic GnRH clock in men. J Clin Endocrinol Metab. 2011 Jun; 96(6):E908-15.
    View in: PubMed
  14. Caronia LM, Martin C, Welt CK, Sykiotis GP, Quinton R, Thambundit A, Avbelj M, Dhruvakumar S, Plummer L, Hughes VA, Seminara SB, Boepple PA, Sidis Y, Crowley WF, Martin KA, Hall JE, Pitteloud N. A genetic basis for functional hypothalamic amenorrhea. N Engl J Med. 2011 Jan 20; 364(3):215-25.
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  15. Shaw ND, Seminara SB, Welt CK, Au MG, Plummer L, Hughes VA, Dwyer AA, Martin KA, Quinton R, Mericq V, Merino PM, Gusella JF, Crowley WF, Pitteloud N, Hall JE. Expanding the phenotype and genotype of female GnRH deficiency. J Clin Endocrinol Metab. 2011 Mar; 96(3):E566-76.
    View in: PubMed
  16. Wahab F, Ullah F, Chan YM, Seminara SB, Shahab M. Decrease in hypothalamic Kiss1 and Kiss1r expression: a potential mechanism for fasting-induced suppression of the HPG axis in the adult male rhesus monkey (Macaca mulatta). Horm Metab Res. 2011 Feb; 43(2):81-5.
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  17. Martin C, Balasubramanian R, Dwyer AA, Au MG, Sidis Y, Kaiser UB, Seminara SB, Pitteloud N, Zhou QY, Crowley WF. The role of the prokineticin 2 pathway in human reproduction: evidence from the study of human and murine gene mutations. Endocr Rev. 2011 Apr; 32(2):225-46.
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  18. Sykiotis GP, Plummer L, Hughes VA, Au M, Durrani S, Nayak-Young S, Dwyer AA, Quinton R, Hall JE, Gusella JF, Seminara SB, Crowley WF, Pitteloud N. Oligogenic basis of isolated gonadotropin-releasing hormone deficiency. Proc Natl Acad Sci U S A. 2010 Aug 24; 107(34):15140-4.
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  19. Balasubramanian R, Dwyer A, Seminara SB, Pitteloud N, Kaiser UB, Crowley WF. Human GnRH deficiency: a unique disease model to unravel the ontogeny of GnRH neurons. Neuroendocrinology. 2010; 92(2):81-99.
    View in: PubMed
  20. Ramaswamy S, Seminara SB, Ali B, Ciofi P, Amin NA, Plant TM. Neurokinin B stimulates GnRH release in the male monkey (Macaca mulatta) and is colocalized with kisspeptin in the arcuate nucleus. Endocrinology. 2010 Sep; 151(9):4494-503.
    View in: PubMed
  21. Sykiotis GP, Pitteloud N, Seminara SB, Kaiser UB, Crowley WF. Deciphering genetic disease in the genomic era: the model of GnRH deficiency. Sci Transl Med. 2010 May 19; 2(32):32rv2.
    View in: PubMed
  22. Seminara S, Nanni L, Generoso M, Mirri S, Leonardi V, Slabadzianiuk T, Vetrano ML, Buongiorno A, Losi S, Galluzzi F. Effect of treatment with cyproterone acetate on uterine bleeding at the beginning of GnRH analogue therapy in girls with idiopathic central precocious puberty. Horm Res Paediatr. 2010; 73(5):386-9.
    View in: PubMed
  23. Chan YM, Fenoglio-Simeone KA, Paraschos S, Muhammad L, Troester MM, Ng YT, Johnsonbaugh RE, Coons SW, Prenger EC, Kerrigan JF, Seminara SB. Central precocious puberty due to hypothalamic hamartomas correlates with anatomic features but not with expression of GnRH, TGFalpha, or KISS1. Horm Res Paediatr. 2010; 73(5):312-9.
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  24. Gianetti E, Tusset C, Noel SD, Au MG, Dwyer AA, Hughes VA, Abreu AP, Carroll J, Trarbach E, Silveira LF, Costa EM, de Mendonça BB, de Castro M, Lofrano A, Hall JE, Bolu E, Ozata M, Quinton R, Amory JK, Stewart SE, Arlt W, Cole TR, Crowley WF, Kaiser UB, Latronico AC, Seminara SB. TAC3/TACR3 mutations reveal preferential activation of gonadotropin-releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthood. J Clin Endocrinol Metab. 2010 Jun; 95(6):2857-67.
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  25. Miura K, Miura S, Yoshiura K, Seminara S, Hamaguchi D, Niikawa N, Masuzaki H. A case of Kallmann syndrome carrying a missense mutation in alternatively spliced exon 8A encoding the immunoglobulin-like domain IIIb of fibroblast growth factor receptor 1. Hum Reprod. 2010 Apr; 25(4):1076-80.
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  26. Chan YM, Broder-Fingert SB, Wong K, Seminara SB. Kisspeptin/Gpr54-independent GnRH activity in Kiss1 and Gpr54 mutant mice. J Neuroendocrinology. 2009; epub.
  27. Chan YM, Broder-Fingert S, Wong KM, Seminara SB. Kisspeptin/Gpr54-independent gonadotrophin-releasing hormone activity in Kiss1 and Gpr54 mutant mice. J Neuroendocrinol. 2009 Dec; 21(12):1015-23.
    View in: PubMed
  28. Chan YM, Fenoglio KA, Paraschos S, Muhammad L, Troester MM, Ng YT, Johnsonbaugh RE, Coons SW, Prenger EC, Kerrigan JF, Seminara SB. Precocious puberty associated with hypothalamic hamartomas correlates with anatomic features but not with expression of GnRH, TGFá, or KISS1. Hormone Research. 2009; (In press).
  29. Chan YM, de Guillebon A, Lang-Muritano M, Plummer L, Cerrato F, Tsiaras S, Gaspert A, Lavoie HB, Wu CH, Crowley WF, Amory JK, Pitteloud N, Seminara SB. GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism. Proc Natl Acad Sci U S A. 2009 Jul 14; 106(28):11703-8.
    View in: PubMed
  30. Jongmans MC, van Ravenswaaij-Arts CM, Pitteloud N, Ogata T, Sato N, Claahsen-van der Grinten HL, van der Donk K, Seminara S, Bergman JE, Brunner HG, Crowley WF, Hoefsloot LH. CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome. Clin Genet. 2009 Jan; 75(1):65-71.
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  31. Seminara SB. Lack of association of hypogonadotropic genes with age at menarche: prospects for the future. J Clin Endocrinol Metab. 2008 Nov; 93(11):4224-5.
    View in: PubMed
  32. Chan YM, Broder-Fingert S, Seminara SB. Reproductive functions of kisspeptin and Gpr54 across the life cycle of mice and men. Peptides. 2009 Jan; 30(1):42-8.
    View in: PubMed
  33. Cole LW, Sidis Y, Zhang C, Quinton R, Plummer L, Pignatelli D, Hughes VA, Dwyer AA, Raivio T, Hayes FJ, Seminara SB, Huot C, Alos N, Speiser P, Takeshita A, Van Vliet G, Pearce S, Crowley WF, Zhou QY, Pitteloud N. Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum. J Clin Endocrinol Metab. 2008 Sep; 93(9):3551-9.
    View in: PubMed
  34. Cole LW, Sidis Y, Zhang C, Quinton R, Plummer L, Pignatelli D, Hughes VA, Dwyer AA, Raivio T, Hayes FJ, Seminara SB, Huot C, Alos N, Speiser P, Takeshita A, Van Vliet G, Pearce S, Crowley WF Jr, Zhou QY, Pitteloud N. Mutations in prokineticin 2(PROK2) and PROK2 receptor (PROKR2) in human gonadotropin-releasing hormone deficiency: molecular genetics and clinical spectrum. J Clin Endocrinol Metab. 2008; 93(9):3551-9.
  35. Seminara SB, Crowley WF. Kisspeptin and GPR54: discovery of a novel pathway in reproduction. J Neuroendocrinol. 2008 Jun; 20(6):727-31.
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  36. Gianetti E, Seminara S. Kisspeptin and KISS1R: a critical pathway in the reproductive system. Reproduction. 2008 Sep; 136(3):295-301.
    View in: PubMed
  37. Teles MG, Bianco SD, Brito VN, Trarbach EB, Kuohung W, Xu S, Seminara SB, Mendonca BB, Kaiser UB, Latronico AC. A GPR54-activating mutation in a patient with central precocious puberty. N Engl J Med. 2008 Feb 14; 358(7):709-15.
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  38. Teles MG, Bianco SDC, Brito VN, Trarbach E, Kuohung W, Xu S, Seminara SB, Mendonca B, Kaiser UB, Latronico AC. A GPR54 activating mutation is associated with gonadotropin dependent precocious puberty. N Engl J Med. 2008; 358(7):709-715.
  39. Crowley WF, Pitteloud N, Seminara S. New genes controlling human reproduction and how you find them. Trans Am Clin Climatol Assoc. 2008; 119:29-37; discussion 37-8.
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  40. Seminara SB. Converging at puberty's hub. Endocrinology. 2007 Nov; 148(11):5145-6.
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  41. Hughes VA, Boepple PA, Crowley WF, Seminara SB. Interplay between dose and frequency of GnRH administration in determining pituitary gonadotropin responsiveness. Neuroendocrinology. 2008; 87(3):142-50.
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  42. Seminara SB. Kisspeptin in reproduction. Semin Reprod Med. 2007 Sep; 25(5):337-43.
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  43. Lapatto R, Pallais JC, Zhang D, Chan YM, Mahan A, Cerrato F, Le WW, Hoffman GE, Seminara SB. Kiss1-/- mice exhibit more variable hypogonadism than Gpr54-/- mice. Endocrinology. 2007 Oct; 148(10):4927-36.
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  44. Ramaswamy S, Seminara SB, Pohl CR, DiPietro MJ, Crowley WF, Plant TM. Effect of continuous intravenous administration of human metastin 45-54 on the neuroendocrine activity of the hypothalamic-pituitary-testicular axis in the adult male rhesus monkey (Macaca mulatta). Endocrinology. 2007 Jul; 148(7):3364-70.
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  45. Cerrato F, Seminara SB. Human genetics of GPR54. Rev Endocr Metab Disord. 2007 Mar; 8(1):47-55.
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  46. Pitteloud N, Quinton R, Pearce S, Raivio T, Acierno J, Dwyer A, Plummer L, Hughes V, Seminara S, Cheng YZ, Li WP, Maccoll G, Eliseenkova AV, Olsen SK, Ibrahimi OA, Hayes FJ, Boepple P, Hall JE, Bouloux P, Mohammadi M, Crowley W. Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism. J Clin Invest. 2007 Feb; 117(2):457-63.
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  47. Timmons M, Tsokos M, Asab MA, Seminara SB, Zirzow GC, Kaneski CR, Heiss JD, van der Knaap MS, Vanier MT, Schiffmann R, Wong K. Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia. Neurology. 2006 Dec 12; 67(11):2066-9.
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  48. Cerrato F, Shagoury J, Kralickova M, Dwyer A, Falardeau J, Ozata M, Van Vliet G, Bouloux P, Hall JE, Hayes FJ, Pitteloud N, Martin KA, Welt C, Seminara SB. Coding sequence analysis of GNRHR and GPR54 in patients with congenital and adult-onset forms of hypogonadotropic hypogonadism. Eur J Endocrinol. 2006 Nov; 155 Suppl 1:S3-S10.
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  49. Cerrato F, Shagoury J, Beranova M, Dwyer A, Falardeau J, Ozata M, VanVliet G, Bouloux PM, Hall JE, Hayes FJ, Pitteloud N, Welt C, Seminara SB. Coding sequence analysis of GNRHR and GPR54 in patients with congenital and adult onset forms of hypogonadotropic hypogonadism. Euro J Endocrinol. 2006; 155:S3-S10.
  50. Pitteloud N, Meysing A, Quinton R, Acierno JS, Dwyer AA, Plummer L, Fliers E, Boepple P, Hayes F, Seminara S, Hughes VA, Ma J, Bouloux P, Mohammadi M, Crowley WF. Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes. Mol Cell Endocrinol. 2006 Jul 25; 254-255:60-9.
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  51. Pallais JC, Bo-Abbas Y, Pitteloud N, Crowley WF, Seminara SB. Neuroendocrine, gonadal, placental, and obstetric phenotypes in patients with IHH and mutations in the G-protein coupled receptor, GPR54. Mol Cell Endocrinol. 2006 Jul 25; 254-255:70-7.
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  52. Seminara SB. Mechanisms of Disease: the first kiss-a crucial role for kisspeptin-1 and its receptor, G-protein-coupled receptor 54, in puberty and reproduction. Nat Clin Pract Endocrinol Metab. 2006 Jun; 2(6):328-34.
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  53. Seminara SB. Mechanisms of disease: the first kiss--a crucial role for kisspeptin-1 and its receptor, G protein coupled receptor 54, in puberty and reproduction. Nature Clin Pract Endocrinol Med. 2006; 2(6):328-334.
  54. Seminara SB, Dipietro MJ, Ramaswamy S, Crowley WF, Plant TM. Continuous human metastin 45-54 infusion desensitizes G protein-coupled receptor 54-induced gonadotropin-releasing hormone release monitored indirectly in the juvenile male Rhesus monkey (Macaca mulatta): a finding with therapeutic implications. Endocrinology. 2006 May; 147(5):2122-6.
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  55. Seminara SB. We all remember our first kiss: kisspeptin and the male gonadal axis. J Clin Endocrinol Metab. 2005 Dec; 90(12):6738-40.
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  56. Seminara S, Stagi S, Candura L, Scrivano M, Lenzi L, Nanni L, Pagliai F, Chiarelli F. Changes of thyroid function during long-term hGH therapy in GHD children. A possible relationship with catch-up growth? Horm Metab Res. 2005 Dec; 37(12):751-6.
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  57. Seminara SB. Metastin and its G protein-coupled receptor, GPR54: critical pathway modulating GnRH secretion. Front Neuroendocrinol. 2005 Oct-Dec; 26(3-4):131-8.
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  58. Corssmit EP, Seminara SB, Pitteloud N, Fliers E. Kallmann syndrome in a 47,XXX patient. Am J Med Genet A. 2005 Nov 15; 139(1):52-3.
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  59. Kim HG, Herrick SR, Lemyre E, Kishikawa S, Salisz JA, Seminara S, MacDonald ME, Bruns GA, Morton CC, Quade BJ, Gusella JF. Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1. J Med Genet. 2005 Aug; 42(8):666-72.
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  60. Seminara SB, Kaiser UB. New gatekeepers of reproduction: GPR54 and its cognate ligand, KiSS-1. Endocrinology. 2005 Apr; 146(4):1686-8.
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  61. Shahab M, Mastronardi C, Seminara SB, Crowley WF, Ojeda SR, Plant TM. Increased hypothalamic GPR54 signaling: a potential mechanism for initiation of puberty in primates. Proc Natl Acad Sci U S A. 2005 Feb 8; 102(6):2129-34.
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  62. Meysing AU, Kanasaki H, Bedecarrats GY, Acierno JS, Conn PM, Martin KA, Seminara SB, Hall JE, Crowley WF, Kaiser UB. GNRHR mutations in a woman with idiopathic hypogonadotropic hypogonadism highlight the differential sensitivity of luteinizing hormone and follicle-stimulating hormone to gonadotropin-releasing hormone. J Clin Endocrinol Metab. 2004 Jul; 89(7):3189-98.
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  63. Gottsch ML, Cunningham MJ, Smith JT, Popa SM, Acohido BV, Crowley WF, Seminara S, Clifton DK, Steiner RA. A role for kisspeptins in the regulation of gonadotropin secretion in the mouse. Endocrinology. 2004 Sep; 145(9):4073-7.
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  64. Seminara SB. Learning from the Literature. 2004.
  65. Seminara S, McMahon,G. Transcript & Tutor Guide "Pumped Up". 2004.
  66. Miura K, Acierno JS, Seminara SB. Characterization of the human nasal embryonic LHRH factor gene, NELF, and a mutation screening among 65 patients with idiopathic hypogonadotropic hypogonadism (IHH). J Hum Genet. 2004; 49(5):265-8.
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  67. Seminara SB, Messager S, Chatzidaki EE, Thresher RR, Acierno JS, Shagoury JK, Bo-Abbas Y, Kuohung W, Schwinof KM, Hendrick AG, Zahn D, Dixon J, Kaiser UB, Slaugenhaupt SA, Gusella JF, O'Rahilly S, Carlton MB, Crowley WF, Aparicio SA, Colledge WH. The GPR54 gene as a regulator of puberty. N Engl J Med. 2003 Oct 23; 349(17):1614-27.
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  68. Bédécarrats GY, Linher KD, Janovick JA, Beranova M, Kada F, Seminara SB, Michael Conn P, Kaiser UB. Four naturally occurring mutations in the human GnRH receptor affect ligand binding and receptor function. Mol Cell Endocrinol. 2003 Jul 31; 205(1-2):51-64.
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  69. Acierno JS, Shagoury JK, Bo-Abbas Y, Crowley WF, Seminara SB. A locus for autosomal recessive idiopathic hypogonadotropic hypogonadism on chromosome 19p13.3. J Clin Endocrinol Metab. 2003 Jun; 88(6):2947-50.
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  70. Bo-Abbas Y, Acierno JS, Shagoury JK, Crowley WF, Seminara SB. Autosomal recessive idiopathic hypogonadotropic hypogonadism: genetic analysis excludes mutations in the gonadotropin-releasing hormone (GnRH) and GnRH receptor genes. J Clin Endocrinol Metab. 2003 Jun; 88(6):2730-7.
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  71. Seminara SB, Crowley WF. Genetic approaches to unraveling reproductive disorders: examples of bedside to bench research in the genomic era. Endocr Rev. 2002 Jun; 23(3):382-92.
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  72. Seminara SB, Acierno JS, Abdulwahid NA, Crowley WF, Margolin DH. Hypogonadotropic hypogonadism and cerebellar ataxia: detailed phenotypic characterization of a large, extended kindred. J Clin Endocrinol Metab. 2002 Apr; 87(4):1607-12.
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  73. Pitteloud N, Hayes FJ, Boepple PA, DeCruz S, Seminara SB, MacLaughlin DT, Crowley WF. The role of prior pubertal development, biochemical markers of testicular maturation, and genetics in elucidating the phenotypic heterogeneity of idiopathic hypogonadotropic hypogonadism. J Clin Endocrinol Metab. 2002 Jan; 87(1):152-60.
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  74. Seminara S, Crowley WF. The genetics of IHH--a paradox. Clin Endocrinol (Oxf). 2001 Aug; 55(2):159-60.
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  75. Seminara SB, Crowley WF. Perspective: the importance of genetic defects in humans in elucidating the complexities of the hypothalamic-pituitary-gonadal axis. Endocrinology. 2001 Jun; 142(6):2173-7.
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  76. Beranova M, Oliveira LM, Bédécarrats GY, Schipani E, Vallejo M, Ammini AC, Quintos JB, Hall JE, Martin KA, Hayes FJ, Pitteloud N, Kaiser UB, Crowley WF, Seminara SB. Prevalence, phenotypic spectrum, and modes of inheritance of gonadotropin-releasing hormone receptor mutations in idiopathic hypogonadotropic hypogonadism. J Clin Endocrinol Metab. 2001 Apr; 86(4):1580-8.
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  77. Oliveira LM, Seminara SB, Beranova M, Hayes FJ, Valkenburgh SB, Schipani E, Costa EM, Latronico AC, Crowley WF, Vallejo M. The importance of autosomal genes in Kallmann syndrome: genotype-phenotype correlations and neuroendocrine characteristics. J Clin Endocrinol Metab. 2001 Apr; 86(4):1532-8.
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  78. Hayes FJ, DeCruz S, Seminara SB, Boepple PA, Crowley WF. Differential regulation of gonadotropin secretion by testosterone in the human male: absence of a negative feedback effect of testosterone on follicle-stimulating hormone secretion. J Clin Endocrinol Metab. 2001 Jan; 86(1):53-8.
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  79. Seminara SB, Hall JE. Physicians' Information and Education Resource (PIER). 2001.
  80. Seminara SB, Oliveira LM, Beranova M, Hayes FJ, Crowley WF. Genetics of hypogonadotropic hypogonadism. J Endocrinol Invest. 2000 Oct; 23(9):560-5.
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  81. Hayes FJ, Seminara SB, Decruz S, Boepple PA, Crowley WF. Aromatase inhibition in the human male reveals a hypothalamic site of estrogen feedback. J Clin Endocrinol Metab. 2000 Sep; 85(9):3027-35.
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  82. Seminara SB, Beranova M, Oliveira LM, Martin KA, Crowley WF, Hall JE. Successful use of pulsatile gonadotropin-releasing hormone (GnRH) for ovulation induction and pregnancy in a patient with GnRH receptor mutations. J Clin Endocrinol Metab. 2000 Feb; 85(2):556-62.
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  83. Seminara SB, Achermann JC, Genel M, Jameson JL, Crowley WF. X-linked adrenal hypoplasia congenita: a mutation in DAX1 expands the phenotypic spectrum in males and females. J Clin Endocrinol Metab. 1999 Dec; 84(12):4501-9.
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  84. Achermann JC, Gu WX, Kotlar TJ, Meeks JJ, Sabacan LP, Seminara SB, Habiby RL, Hindmarsh PC, Bick DP, Sherins RJ, Crowley WF, Layman LC, Jameson JL. Mutational analysis of DAX1 in patients with hypogonadotropic hypogonadism or pubertal delay. J Clin Endocrinol Metab. 1999 Dec; 84(12):4497-500.
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  85. Seminara S, Crowley WF. Hypogonadotrophic hypogonadism: a unique biological opportunity. Clin Endocrinol (Oxf). 1999 Oct; 51(4):385-6.
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  86. Seminara SB, Hall JE, Taylor AE, Crowley WF, Martin KA. The Reproductive Endocrine Associates of the Massachusetts General Hospital: fifteen years of integrated clinical practice and investigation. J Clin Endocrinol Metab. 1999 Jun; 84(6):1912-8.
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  87. Seminara SB, Crowley Jr WF. Hypogonadotropic hypogonadism: A unique biologic opportunity. Clin Endocrinol. 1999; 51:385-386.
  88. Hayes FJ, Seminara SB, Crowley WF. Hypogonadotropic hypogonadism. Endocrinol Metab Clin North Am. 1998 Dec; 27(4):739-63, vii.
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  89. Seminara SB, Hayes FJ, Crowley WF. Gonadotropin-releasing hormone deficiency in the human (idiopathic hypogonadotropic hypogonadism and Kallmann's syndrome): pathophysiological and genetic considerations. Endocr Rev. 1998 Oct; 19(5):521-39.
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  90. Seminara S, Filpo A, La Cauza F, Faedda A, Miola A, Pellizzone S, Casati M, Loche S. Growth hormone binding protein activity in obese children. J Endocrinol Invest. 1998 Jul-Aug; 21(7):441-4.
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  91. Seminara S, Merello G, Masi S, Filpo A, La Cauza F, D'Onghia G, Martelli E, Loche S. Effect of long-term growth hormone treatment on carbohydrate metabolism in children with growth hormone deficiency. Clin Endocrinol (Oxf). 1998 Jul; 49(1):125-30.
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  92. Seminara SB, Daniels GH. Amiodarone and the thyroid. Endocr Pract. 1998 Jan-Feb; 4(1):48-57.
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  93. Seminara S, Filpo A, Piccinini P, La Cauza F, Cappa M, Faedda A, Loche S. Growth hormone (GH) response to GH-releasing hormone in short children: lack of correlation with endogenous nocturnal GH secretion. J Endocrinol Invest. 1997 Mar; 20(3):118-21.
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  94. Waldstreicher J, Seminara SB, Jameson JL, Geyer A, Nachtigall LB, Boepple PA, Holmes LB, Crowley WF. The genetic and clinical heterogeneity of gonadotropin-releasing hormone deficiency in the human. J Clin Endocrinol Metab. 1996 Dec; 81(12):4388-95.
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  95. Bellone J, Aimaretti G, Valetto MR, Bellone S, Baffoni C, Arvat E, Seminara S, Camanni F, Ghigo E. Acute administration of recombinant human growth hormone inhibits the somatotrope responsiveness to growth hormone-releasing hormone in childhood. Eur J Endocrinol. 1996 Oct; 135(4):421-4.
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  96. Seminara SB, Boepple PA, Nachtigall LB, Pralong FP, Khoury RH, Sluss PM, Lecain AE, Crowley WF. Inhibin B in males with gonadotropin-releasing hormone (GnRH) deficiency: changes in serum concentration after shortterm physiologic GnRH replacement--a clinical research center study. J Clin Endocrinol Metab. 1996 Oct; 81(10):3692-6.
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  97. Nachtigall LB, Boepple PA, Seminara SB, Khoury RH, Sluss PM, Lecain AE, Crowley WF. Inhibin B secretion in males with gonadotropin-releasing hormone (GnRH) deficiency before and during long-term GnRH replacement: relationship to spontaneous puberty, testicular volume, and prior treatment--a clinical research center study. J Clin Endocrinol Metab. 1996 Oct; 81(10):3520-5.
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  98. Seminara SB, Dryja TP. Unbiased transmission of mutant alleles at the human retinoblastoma locus. Hum Genet. 1994 Jun; 93(6):629-34.
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  99. Becherucci P, Seminara S, Paoletti I, Galluzzi F, Martinucci ME, Medici A, Parpagnoli M, Toni S, Bernardini S, Chiccoli A. Thyroid hormones low levels in insulin-dependent diabetic young people. J Endocrinol Invest. 1989; 12(8 Suppl 3):151-2.
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  100. Seminara S, Galluzzi F, Salti R, Generoso M, Bini A, Brocchi A, Alessandrello AL. Serum and urine somatomedin B in pediatrics. Ric Clin Lab. 1984 Jan-Mar; 14(1):41-6.
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