Seminara SB - Search Results

1

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. Shi CH, et al. Among authors: seminara sb. Hum Mol Genet. 2014 Feb 15;23(4):1013-24. doi: 10.1093/hmg/ddt497. Epub 2013 Oct 9. Hum Mol Genet. 2014. PMID: 24113144 Free PMC article.

2

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. Margolin DH, et al. Among authors: seminara sb. N Engl J Med. 2013 May 23;368(21):1992-2003. doi: 10.1056/NEJMoa1215993. Epub 2013 May 8. N Engl J Med. 2013. PMID: 23656588 Free PMC article.

3

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

Lippincott MF, True C, Seminara SB. Lippincott MF, et al. Among authors: seminara sb. Exp Physiol. 2013 Nov;98(11):1522-7. doi: 10.1113/expphysiol.2013.071910. Epub 2013 Aug 16. Exp Physiol. 2013. PMID: 23955308 Free PMC article. Review.

4

Characterization of the human nasal embryonic LHRH factor gene, NELF, and a mutation screening among 65 patients with idiopathic hypogonadotropic hypogonadism (IHH).

Miura K, Acierno JS Jr, Seminara SB. Miura K, et al. Among authors: seminara sb. J Hum Genet. 2004;49(5):265-8. doi: 10.1007/s10038-004-0137-4. J Hum Genet. 2004. PMID: 15362570

5

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. Navarro VM, et al. Among authors: seminara sb. Endocrinology. 2015 Feb;156(2):627-37. doi: 10.1210/en.2014-1651. Epub 2014 Nov 25. Endocrinology. 2015. PMID: 25422875 Free PMC article.

6

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. True C, et al. Among authors: seminara sb. Endocrinology. 2015 Apr;156(4):1386-97. doi: 10.1210/en.2014-1862. Epub 2015 Jan 9. Endocrinology. 2015. PMID: 25574869 Free PMC article.

7

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. Richards MR, et al. Among authors: seminara sb. J Med Genet. 2017 Jan;54(1):19-25. doi: 10.1136/jmedgenet-2016-104064. Epub 2016 Aug 10. J Med Genet. 2017. PMID: 27512013 Free PMC article.

8

Hypogonadotropic hypogonadism and cerebellar ataxia: detailed phenotypic characterization of a large, extended kindred.

Seminara SB, Acierno JS Jr, Abdulwahid NA, Crowley WF Jr, Margolin DH. Seminara SB, et al. J Clin Endocrinol Metab. 2002 Apr;87(4):1607-12. doi: 10.1210/jcem.87.4.8384. J Clin Endocrinol Metab. 2002. PMID: 11932290

9

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. Miraoui H, et al. Among authors: seminara sb. Am J Hum Genet. 2013 May 2;92(5):725-43. doi: 10.1016/j.ajhg.2013.04.008. Am J Hum Genet. 2013. PMID: 23643382 Free PMC article.

10

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. Teive HAG, et al. Among authors: seminara sb. Cerebellum. 2018 Jun;17(3):380-385. doi: 10.1007/s12311-017-0909-y. Cerebellum. 2018. PMID: 29248984 Free PMC article.

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