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Items: 1 to 50 of 164

1.

Functional Hypogonadotropic Hypogonadism in Men: Underlying Neuroendocrine Mechanisms and Natural History.

Dwyer AA, Chavan NR, Lewkowitz-Shpuntoff H, Plummer L, Hayes FJ, Seminara SB, Crowley WF, Pitteloud N, Balasubramanian R.

J Clin Endocrinol Metab. 2019 Aug 1;104(8):3403-3414. doi: 10.1210/jc.2018-02697.

PMID:
31220265
2.

Paediatric and adult-onset male hypogonadism.

Salonia A, Rastrelli G, Hackett G, Seminara SB, Huhtaniemi IT, Rey RA, Hellstrom WJG, Palmert MR, Corona G, Dohle GR, Khera M, Chan YM, Maggi M.

Nat Rev Dis Primers. 2019 May 30;5(1):38. doi: 10.1038/s41572-019-0087-y. Review.

PMID:
31147553
3.

Hypothalamic Reproductive Endocrine Pulse Generator Activity Independent of Neurokinin B and Dynorphin Signaling.

Lippincott MF, León S, Chan YM, Fergani C, Talbi R, Farooqi IS, Jones CM, Arlt W, Stewart SE, Cole TR, Terasawa E, Hall JE, Shaw ND, Navarro VM, Seminara SB.

J Clin Endocrinol Metab. 2019 Oct 1;104(10):4304-4318. doi: 10.1210/jc.2019-00146.

4.

Assessing Sex Steroid Influence on Kisspeptin Responsiveness in Idiopathic Hypogonadotropic Hypogonadism.

Lippincott MF, Nguyen K, Delaney A, Chan YM, Seminara SB.

J Endocr Soc. 2018 Sep 20;2(11):1293-1305. doi: 10.1210/js.2018-00183. eCollection 2018 Nov 1.

5.

Large-scale meta-analysis highlights the hypothalamic-pituitary-gonadal axis in the genetic regulation of menstrual cycle length.

Laisk T, Kukuškina V, Palmer D, Laber S, Chen CY, Ferreira T, Rahmioglu N, Zondervan K, Becker C, Smoller JW, Lippincott M, Salumets A, Granne I, Seminara S, Neale B, Mägi R, Lindgren CM.

Hum Mol Genet. 2018 Dec 15;27(24):4323-4332. doi: 10.1093/hmg/ddy317.

6.

Role of Kisspeptin and Neurokinin B Signaling in Male Rhesus Monkey Puberty.

Garcia JP, Keen KL, Kenealy BP, Seminara SB, Terasawa E.

Endocrinology. 2018 Aug 1;159(8):3048-3060. doi: 10.1210/en.2018-00443.

7.

Role of Kisspeptin and Neurokinin B in Puberty in Female Non-Human Primates.

Terasawa E, Garcia JP, Seminara SB, Keen KL.

Front Endocrinol (Lausanne). 2018 Apr 6;9:148. doi: 10.3389/fendo.2018.00148. eCollection 2018. Review.

8.

Divergent responses to kisspeptin in children with delayed puberty.

Chan YM, Lippincott MF, Kusa TO, Seminara SB.

JCI Insight. 2018 Apr 19;3(8). pii: 99109. doi: 10.1172/jci.insight.99109. eCollection 2018 Apr 19.

9.

The 3rd World Conference on Kisspeptin, "Kisspeptin 2017: Brain and Beyond":Unresolved questions, challenges and future directions for the field.

Lehman MN, Coolen LM, Steiner RA, Neal-Perry G, Wang L, Moenter SM, Moore AM, Goodman RL, Hwa-Yeo S, Padilla SL, Kauffman AS, Garcia J, Kelly MJ, Clarkson J, Radovick S, Babwah AV, Leon S, Tena-Sempere M, Comninos A, Seminara S, Dhillo WS, Levine J, Terasawa E, Negron A, Herbison AE.

J Neuroendocrinol. 2018 Apr 14:e12600. doi: 10.1111/jne.12600. [Epub ahead of print] Review.

10.

Discordance in the Dependence on Kisspeptin Signaling in Mini Puberty vs Adolescent Puberty: Human Genetic Evidence.

Shahab M, Lippincott M, Chan YM, Davies A, Merino PM, Plummer L, Mericq V, Seminara S.

J Clin Endocrinol Metab. 2018 Apr 1;103(4):1273-1276. doi: 10.1210/jc.2017-02636.

11.

Different Cerebellar Ataxia Phenotypes Associated with Mutations of the PNPLA6 Gene in Brazilian Patients with Recessive Ataxias.

Teive HAG, Camargo CHF, Sato MT, Shiokawa N, Boguszewski CL, Raskin S, Buck C, Seminara SB, Munhoz RP.

Cerebellum. 2018 Jun;17(3):380-385. doi: 10.1007/s12311-017-0909-y.

12.

Kisspeptin and Neurokinin B Signaling Network Underlies the Pubertal Increase in GnRH Release in Female Rhesus Monkeys.

Garcia JP, Guerriero KA, Keen KL, Kenealy BP, Seminara SB, Terasawa E.

Endocrinology. 2017 Oct 1;158(10):3269-3280. doi: 10.1210/en.2017-00500.

13.

Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Shaw ND, Brand H, Kupchinsky ZA, Bengani H, Plummer L, Jones TI, Erdin S, Williamson KA, Rainger J, Stortchevoi A, Samocha K, Currall BB, Dunican DS, Collins RL, Willer JR, Lek A, Lek M, Nassan M, Pereira S, Kammin T, Lucente D, Silva A, Seabra CM, Chiang C, An Y, Ansari M, Rainger JK, Joss S, Smith JC, Lippincott MF, Singh SS, Patel N, Jing JW, Law JR, Ferraro N, Verloes A, Rauch A, Steindl K, Zweier M, Scheer I, Sato D, Okamoto N, Jacobsen C, Tryggestad J, Chernausek S, Schimmenti LA, Brasseur B, Cesaretti C, García-Ortiz JE, Buitrago TP, Silva OP, Hoffman JD, Mühlbauer W, Ruprecht KW, Loeys BL, Shino M, Kaindl AM, Cho CH, Morton CC, Meehan RR, van Heyningen V, Liao EC, Balasubramanian R, Hall JE, Seminara SB, Macarthur D, Moore SA, Yoshiura KI, Gusella JF, Marsh JA, Graham JM Jr, Lin AE, Katsanis N, Jones PL, Crowley WF Jr, Davis EE, FitzPatrick DR, Talkowski ME.

Nat Genet. 2017 May 26;49(6):969. doi: 10.1038/ng0617-969c. No abstract available.

PMID:
28546579
14.

Continuous Kisspeptin Administration in Postmenopausal Women: Impact of Estradiol on Luteinizing Hormone Secretion.

Lippincott MF, Chan YM, Rivera Morales D, Seminara SB.

J Clin Endocrinol Metab. 2017 Jun 1;102(6):2091-2099. doi: 10.1210/jc.2016-3952.

15.

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Shaw ND, Brand H, Kupchinsky ZA, Bengani H, Plummer L, Jones TI, Erdin S, Williamson KA, Rainger J, Stortchevoi A, Samocha K, Currall BB, Dunican DS, Collins RL, Willer JR, Lek A, Lek M, Nassan M, Pereira S, Kammin T, Lucente D, Silva A, Seabra CM, Chiang C, An Y, Ansari M, Rainger JK, Joss S, Smith JC, Lippincott MF, Singh SS, Patel N, Jing JW, Law JR, Ferraro N, Verloes A, Rauch A, Steindl K, Zweier M, Scheer I, Sato D, Okamoto N, Jacobsen C, Tryggestad J, Chernausek S, Schimmenti LA, Brasseur B, Cesaretti C, García-Ortiz JE, Buitrago TP, Silva OP, Hoffman JD, Mühlbauer W, Ruprecht KW, Loeys BL, Shino M, Kaindl AM, Cho CH, Morton CC, Meehan RR, van Heyningen V, Liao EC, Balasubramanian R, Hall JE, Seminara SB, Macarthur D, Moore SA, Yoshiura KI, Gusella JF, Marsh JA, Graham JM Jr, Lin AE, Katsanis N, Jones PL, Crowley WF Jr, Davis EE, FitzPatrick DR, Talkowski ME.

Nat Genet. 2017 Feb;49(2):238-248. doi: 10.1038/ng.3743. Epub 2017 Jan 9. Erratum in: Nat Genet. 2017 May 26;49(6):969.

16.

Phenotypic spectrum of POLR3B mutations: isolated hypogonadotropic hypogonadism without neurological or dental anomalies.

Richards MR, Plummer L, Chan YM, Lippincott MF, Quinton R, Kumanov P, Seminara SB.

J Med Genet. 2017 Jan;54(1):19-25. doi: 10.1136/jmedgenet-2016-104064. Epub 2016 Aug 10.

17.

Kisspeptin Responsiveness Signals Emergence of Reproductive Endocrine Activity: Implications for Human Puberty.

Lippincott MF, Chan YM, Delaney A, Rivera-Morales D, Butler JP, Seminara SB.

J Clin Endocrinol Metab. 2016 Aug;101(8):3061-9. doi: 10.1210/jc.2016-1545. Epub 2016 May 23.

18.

Agenesis of internal carotid artery associated with isolated growth hormone deficiency: a case report and literature review.

Stagi S, Traficante G, Lapi E, Pantaleo M, Becciani S, Mortilla M, Seminara S, de Martino M.

BMC Endocr Disord. 2015 Oct 19;15:58. doi: 10.1186/s12902-015-0037-y. Review.

19.

Parathyroid Hormone Levels in Healthy Children and Adolescents.

Stagi S, Cavalli L, Ricci S, Mola M, Marchi C, Seminara S, Brandi ML, de Martino M.

Horm Res Paediatr. 2015;84(2):124-9. doi: 10.1159/000432399. Epub 2015 Jun 30.

PMID:
26138091
20.

Policaptil Gel Retard significantly reduces body mass index and hyperinsulinism and may decrease the risk of type 2 diabetes mellitus (T2DM) in obese children and adolescents with family history of obesity and T2DM.

Stagi S, Lapi E, Seminara S, Pelosi P, Del Greco P, Capirchio L, Strano M, Giglio S, Chiarelli F, de Martino M.

Ital J Pediatr. 2015 Feb 15;41:10. doi: 10.1186/s13052-015-0109-7.

21.

Determinants of vitamin d levels in children and adolescents with down syndrome.

Stagi S, Lapi E, Romano S, Bargiacchi S, Brambilla A, Giglio S, Seminara S, de Martino M.

Int J Endocrinol. 2015;2015:896758. doi: 10.1155/2015/896758. Epub 2015 Jan 20.

22.

A shared genetic basis for self-limited delayed puberty and idiopathic hypogonadotropic hypogonadism.

Zhu J, Choa RE, Guo MH, Plummer L, Buck C, Palmert MR, Hirschhorn JN, Seminara SB, Chan YM.

J Clin Endocrinol Metab. 2015 Apr;100(4):E646-54. doi: 10.1210/jc.2015-1080. Epub 2015 Jan 30.

23.

Neurokinin B is critical for normal timing of sexual maturation but dispensable for adult reproductive function in female mice.

True C, Nasrin Alam S, Cox K, Chan YM, Seminara SB.

Endocrinology. 2015 Apr;156(4):1386-97. doi: 10.1210/en.2014-1862. Epub 2015 Jan 9.

24.

Determinants of Vitamin D Levels in Italian Children and Adolescents: A Longitudinal Evaluation of Cholecalciferol Supplementation versus the Improvement of Factors Influencing 25(OH)D Status.

Stagi S, Pelosi P, Strano M, Poggi G, Manoni C, de Martino M, Seminara S.

Int J Endocrinol. 2014;2014:583039. doi: 10.1155/2014/583039. Epub 2014 Nov 11.

25.

The integrated hypothalamic tachykinin-kisspeptin system as a central coordinator for reproduction.

Navarro VM, Bosch MA, León S, Simavli S, True C, Pinilla L, Carroll RS, Seminara SB, Tena-Sempere M, Rønnekleiv OK, Kaiser UB.

Endocrinology. 2015 Feb;156(2):627-37. doi: 10.1210/en.2014-1651. Epub 2014 Nov 25.

26.

Diabetes mellitus in a girl with thyroid hormone resistance syndrome: a little recognized interaction between the two diseases.

Stagi S, Manoni C, Cirello V, Covelli D, Giglio S, Chiarelli F, Seminara S, de Martino M.

Hormones (Athens). 2014 Oct-Dec;13(4):561-7. doi: 10.14310/horm.2002.1502. Epub 2014 Nov 5.

27.

A SOX3 (Xq26.3-27.3) duplication in a boy with growth hormone deficiency, ocular dyspraxia, and intellectual disability: a long-term follow-up and literature review.

Stagi S, Lapi E, Pantaleo M, Traficante G, Giglio S, Seminara S, de Martino M.

Hormones (Athens). 2014 Oct-Dec;13(4):552-60. doi: 10.14310/horm.2002.1523. Epub 2014 Nov 5. Review.

28.

Hydrocortisone malabsorption due to polyethylene glycols (Macrogol 3350) in a girl with congenital adrenal insufficiency.

Stagi S, Del Greco P, Ricci F, Iurato C, Poggi G, Seminara S, de Martino M.

Ital J Pediatr. 2014 Sep 26;40:78. doi: 10.1186/s13052-014-0078-2.

29.

Exogenous kisspeptin administration as a probe of GnRH neuronal function in patients with idiopathic hypogonadotropic hypogonadism.

Chan YM, Lippincott MF, Butler JP, Sidhoum VF, Li CX, Plummer L, Seminara SB.

J Clin Endocrinol Metab. 2014 Dec;99(12):E2762-71. doi: 10.1210/jc.2014-2233.

30.

Increased prevalence of growth hormone deficiency in patients with vernal keratoconjuntivitis; an interesting new association.

Stagi S, Pucci N, di Grande L, de Libero C, Caputo R, Pantano S, Seminara S, de Martino M, Novembre E.

Hormones (Athens). 2014 Jul-Sep;13(3):382-8. doi: 10.14310/horm.2002.1499.

31.

Fatness and fertility: which direction?

Seminara SB.

J Clin Invest. 2014 Jul;124(7):2853-4. doi: 10.1172/JCI76623. Epub 2014 Jun 17.

32.

Williams-beuren syndrome is a genetic disorder associated with impaired glucose tolerance and diabetes in childhood and adolescence: new insights from a longitudinal study.

Stagi S, Lapi E, Cecchi C, Chiarelli F, D'Avanzo MG, Seminara S, de Martino M.

Horm Res Paediatr. 2014;82(1):38-43. doi: 10.1159/000360476. Epub 2014 Jun 11.

PMID:
24925026
33.

The ever-expanding conundrum of primary osteoporosis: aetiopathogenesis, diagnosis, and treatment.

Stagi S, Cavalli L, Seminara S, de Martino M, Brandi ML.

Ital J Pediatr. 2014 Jun 7;40:55. doi: 10.1186/1824-7288-40-55. Review.

34.

Coeliac disease and risk for other autoimmune diseases in patients with Williams-Beuren syndrome.

Stagi S, Lapi E, D'Avanzo MG, Perferi G, Romano S, Giglio S, Ricci S, Azzari C, Chiarelli F, Seminara S, de Martino M.

BMC Med Genet. 2014 May 23;15:61. doi: 10.1186/1471-2350-15-61.

35.

Implantation failure in female Kiss1-/- mice is independent of their hypogonadic state and can be partially rescued by leukemia inhibitory factor.

Calder M, Chan YM, Raj R, Pampillo M, Elbert A, Noonan M, Gillio-Meina C, Caligioni C, Bérubé NG, Bhattacharya M, Watson AJ, Seminara SB, Babwah AV.

Endocrinology. 2014 Aug;155(8):3065-78. doi: 10.1210/en.2013-1916. Epub 2014 May 30.

36.

Bone metabolism in children and adolescents: main characteristics of the determinants of peak bone mass.

Stagi S, Cavalli L, Iurato C, Seminara S, Brandi ML, de Martino M.

Clin Cases Miner Bone Metab. 2013 Sep;10(3):172-9. Review.

37.

Bone health in children and adolescents: the available imaging techniques.

Stagi S, Cavalli L, Iurato C, Seminara S, Brandi ML, de Martino M.

Clin Cases Miner Bone Metab. 2013 Sep;10(3):166-71. Review.

38.

Type II diabetes and impaired glucose tolerance due to severe hyperinsulinism in patients with 1p36 deletion syndrome and a Prader-Willi-like phenotype.

Stagi S, Lapi E, Pantaleo M, Chiarelli F, Seminara S, de Martino M.

BMC Med Genet. 2014 Jan 30;15:16. doi: 10.1186/1471-2350-15-16.

39.

Reversal and relapse of hypogonadotropic hypogonadism: resilience and fragility of the reproductive neuroendocrine system.

Sidhoum VF, Chan YM, Lippincott MF, Balasubramanian R, Quinton R, Plummer L, Dwyer A, Pitteloud N, Hayes FJ, Hall JE, Martin KA, Boepple PA, Seminara SB.

J Clin Endocrinol Metab. 2014 Mar;99(3):861-70. doi: 10.1210/jc.2013-2809. Epub 2013 Jan 1.

40.

Long-term auxological and endocrinological evaluation of patients with 9p trisomy: a focus on the growth hormone-insulin-like growth factor-I axis.

Stagi S, Lapi E, Seminara S, Guarducci S, Pantaleo M, Giglio S, Chiarelli F, de Martino M.

BMC Endocr Disord. 2014 Jan 8;14:3. doi: 10.1186/1472-6823-14-3.

41.

TACR3 mutations disrupt NK3R function through distinct mechanisms in GnRH-deficient patients.

Noel SD, Abreu AP, Xu S, Muyide T, Gianetti E, Tusset C, Carroll J, Latronico AC, Seminara SB, Carroll RS, Kaiser UB.

FASEB J. 2014 Apr;28(4):1924-37. doi: 10.1096/fj.13-240630. Epub 2013 Dec 27.

42.

Ataxia and hypogonadism caused by the loss of ubiquitin ligase activity of the U box protein CHIP.

Shi CH, Schisler JC, Rubel CE, Tan S, Song B, McDonough H, Xu L, Portbury AL, Mao CY, True C, Wang RH, Wang QZ, Sun SL, Seminara SB, Patterson C, Xu YM.

Hum Mol Genet. 2014 Feb 15;23(4):1013-24. doi: 10.1093/hmg/ddt497. Epub 2013 Oct 9.

43.

Use of genetic models of idiopathic hypogonadotrophic hypogonadism in mice and men to understand the mechanisms of disease.

Lippincott MF, True C, Seminara SB.

Exp Physiol. 2013 Nov;98(11):1522-7. doi: 10.1113/expphysiol.2013.071910. Epub 2013 Aug 16. Review.

44.

Redundancy in Kiss1 expression safeguards reproduction in the mouse.

Popa SM, Moriyama RM, Caligioni CS, Yang JJ, Cho CM, Concepcion TL, Oakley AE, Lee IH, Sanz E, Amieux PS, Caraty A, Palmiter RD, Navarro VM, Chan YM, Seminara SB, Clifton DK, Steiner RA.

Endocrinology. 2013 Aug;154(8):2784-94. doi: 10.1210/en.2013-1222. Epub 2013 Jun 4.

45.

Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination.

Margolin DH, Kousi M, Chan YM, Lim ET, Schmahmann JD, Hadjivassiliou M, Hall JE, Adam I, Dwyer A, Plummer L, Aldrin SV, O'Rourke J, Kirby A, Lage K, Milunsky A, Milunsky JM, Chan J, Hedley-Whyte ET, Daly MJ, Katsanis N, Seminara SB.

N Engl J Med. 2013 May 23;368(21):1992-2003. doi: 10.1056/NEJMoa1215993. Epub 2013 May 8.

46.

Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.

Miraoui H, Dwyer AA, Sykiotis GP, Plummer L, Chung W, Feng B, Beenken A, Clarke J, Pers TH, Dworzynski P, Keefe K, Niedziela M, Raivio T, Crowley WF Jr, Seminara SB, Quinton R, Hughes VA, Kumanov P, Young J, Yialamas MA, Hall JE, Van Vliet G, Chanoine JP, Rubenstein J, Mohammadi M, Tsai PS, Sidis Y, Lage K, Pitteloud N.

Am J Hum Genet. 2013 May 2;92(5):725-43. doi: 10.1016/j.ajhg.2013.04.008.

47.

Kisspeptin and clinical disorders.

Silveira LG, Latronico AC, Seminara SB.

Adv Exp Med Biol. 2013;784:187-99. doi: 10.1007/978-1-4614-6199-9_9. Review.

48.

Prioritizing genetic testing in patients with Kallmann syndrome using clinical phenotypes.

Costa-Barbosa FA, Balasubramanian R, Keefe KW, Shaw ND, Al-Tassan N, Plummer L, Dwyer AA, Buck CL, Choi JH, Seminara SB, Quinton R, Monies D, Meyer B, Hall JE, Pitteloud N, Crowley WF Jr.

J Clin Endocrinol Metab. 2013 May;98(5):E943-53. doi: 10.1210/jc.2012-4116. Epub 2013 Mar 26.

49.

LC-MS/MS quantification of a neuropeptide fragment kisspeptin-10 (NSC 741805) and characterization of its decomposition product and pharmacokinetics in rats.

Liu Z, Ren C, Jones W, Chen P, Seminara SB, Chan YM, Smith NF, Covey JM, Wang J, Chan KK.

J Chromatogr B Analyt Technol Biomed Life Sci. 2013 May 1;926:1-8. doi: 10.1016/j.jchromb.2013.02.027. Epub 2013 Mar 4.

50.

Responsiveness to a physiological regimen of GnRH therapy and relation to genotype in women with isolated hypogonadotropic hypogonadism.

Abel BS, Shaw ND, Brown JM, Adams JM, Alati T, Martin KA, Pitteloud N, Seminara SB, Plummer L, Pignatelli D, Crowley WF Jr, Welt CK, Hall JE.

J Clin Endocrinol Metab. 2013 Feb;98(2):E206-16. doi: 10.1210/jc.2012-3294. Epub 2013 Jan 22.

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