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Page 1
TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci.
Davis EE, Balasubramanian R, Kupchinsky ZA, Keefe DL, Plummer L, Khan K, Meczekalski B, Heath KE, Lopez-Gonzalez V, Ballesta-Martinez MJ, Margabanthu G, Price S, Greening J, Brauner R, Valenzuela I, Cusco I, Fernandez-Alvarez P, Wierman ME, Li T, Lage K, Barroso PS, Chan YM, Crowley WF, Katsanis N. Davis EE, et al. Hum Mol Genet. 2020 Aug 11;29(14):2435-2450. doi: 10.1093/hmg/ddaa120. Hum Mol Genet. 2020. PMID: 32620954 Free PMC article.
Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants.
Rojas RA, Kutateladze AA, Plummer L, Stamou M, Keefe DL Jr, Salnikov KB, Delaney A, Hall JE, Sadreyev R, Ji F, Fliers E, Gambosova K, Quinton R, Merino PM, Mericq V, Seminara SB, Crowley WF Jr, Balasubramanian R. Rojas RA, et al. Genet Med. 2021 Apr;23(4):629-636. doi: 10.1038/s41436-020-01051-3. Epub 2021 Jan 13. Genet Med. 2021. PMID: 33442024 Free PMC article.
Insight Into the Ontogeny of GnRH Neurons From Patients Born Without a Nose.
Delaney A, Volochayev R, Meader B, Lee J, Almpani K, Noukelak GY, Henkind J, Chalmers L, Law JR, Williamson KA, Jacobsen CM, Buitrago TP, Perez O, Cho CH, Kaindl A, Rauch A, Steindl K, Garcia JE, Russell BE, Prasad R, Mondal UK, Reigstad HM, Clements S, Kim S, Inoue K, Arora G, Salnikov KB, DiOrio NP, Prada R, Capri Y, Morioka K, Mizota M, Zechi-Ceide RM, Kokitsu-Nakata NM, Tonello C, Vendramini-Pittoli S, da Silva Dalben G, Balasubramanian R, Dwyer AA, Seminara SB, Crowley WF, Plummer L, Hall JE, Graham JM, Lin AE, Shaw ND. Delaney A, et al. J Clin Endocrinol Metab. 2020 May 1;105(5):1538-51. doi: 10.1210/clinem/dgaa065. J Clin Endocrinol Metab. 2020. PMID: 32034419 Free PMC article.
Pubertal timing predicts adult psychosexuality: Evidence from typically developing adults and adults with isolated GnRH deficiency.
Shirazi TN, Self H, Dawood K, Cárdenas R, Welling LLM, Rosenfield KA, Ortiz TL, Carré JM, Balasubramanian R, Delaney A, Crowley W, Breedlove SM, Puts DA. Shirazi TN, et al. Psychoneuroendocrinology. 2020 Sep;119:104733. doi: 10.1016/j.psyneuen.2020.104733. Epub 2020 Jun 6. Psychoneuroendocrinology. 2020. PMID: 32563936 Free PMC article.
17 results