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The GPR54 gene as a regulator of puberty.
Seminara SB, Messager S, Chatzidaki EE, Thresher RR, Acierno JS Jr, 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 Jr, Aparicio SA, Colledge WH. Seminara SB, et al. N Engl J Med. 2003 Oct 23;349(17):1614-27. doi: 10.1056/NEJMoa035322. N Engl J Med. 2003. PMID: 14573733 Free article.
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. Costa-Barbosa FA, et al. Among authors: seminara sb. J Clin Endocrinol Metab. 2013 May;98(5):E943-53. doi: 10.1210/jc.2012-4116. Epub 2013 Mar 26. J Clin Endocrinol Metab. 2013. PMID: 23533228 Free PMC article.
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.
Prevalence, phenotypic spectrum, and modes of inheritance of gonadotropin-releasing hormone receptor mutations in idiopathic hypogonadotropic hypogonadism.
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 Jr, Seminara SB. Beranova M, et al. Among authors: seminara sb. J Clin Endocrinol Metab. 2001 Apr;86(4):1580-8. doi: 10.1210/jcem.86.4.7395. J Clin Endocrinol Metab. 2001. PMID: 11297587 Free article.
144 results