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Page 1
Development and Validation of a Computable Phenotype for Turner Syndrome Utilizing Electronic Health Records from a National Pediatric Network.
Huang SD, Bamba V, Bothwell S, Fechner PY, Furniss A, Ikomi C, Nahata L, Nokoff NJ, Pyle L, Seyoum H, Davis SM. Huang SD, et al. Among authors: fechner py. medRxiv [Preprint]. 2023 Jul 23:2023.07.19.23292889. doi: 10.1101/2023.07.19.23292889. medRxiv. 2023. Update in: Am J Med Genet A. 2024 Apr;194(4):e63495. doi: 10.1002/ajmg.a.63495 PMID: 37502850 Free PMC article. Updated. Preprint.
Clinical practice guidelines for the care of girls and women with Turner syndrome.
Gravholt CH, Andersen NH, Christin-Maitre S, Davis SM, Duijnhouwer A, Gawlik A, Maciel-Guerra AT, Gutmark-Little I, Fleischer K, Hong D, Klein KO, Prakash SK, Shankar RK, Sandberg DE, Sas TCJ, Skakkebæk A, Stochholm K, van der Velden JA; International Turner Syndrome Consensus Group; Backeljauw PF. Gravholt CH, et al. Eur J Endocrinol. 2024 Jun 5;190(6):G53-G151. doi: 10.1093/ejendo/lvae050. Eur J Endocrinol. 2024. PMID: 38748847
Prevalence, diagnostic features, and medical outcomes of females with Turner syndrome with a trisomy X cell line (45,X/47,XXX): Results from the InsighTS Registry.
Klamut N, Bothwell S, Carl AE, Bamba V, Law JR, Brickman WJ, Klein KO, Kanakatti Shankar R, Pinnaro CT, Fechner PY, Prakash SK, Gutmark-Little I, Howell S, Tartaglia N, Good M, Ranallo KC, Davis SM. Klamut N, et al. Among authors: fechner py. Am J Med Genet A. 2024 Dec;194(12):e63819. doi: 10.1002/ajmg.a.63819. Epub 2024 Jul 17. Am J Med Genet A. 2024. PMID: 39016627
Phase 3 Trial of Crinecerfont in Adult Congenital Adrenal Hyperplasia.
Auchus RJ, Hamidi O, Pivonello R, Bancos I, Russo G, Witchel SF, Isidori AM, Rodien P, Srirangalingam U, Kiefer FW, Falhammar H, Merke DP, Reisch N, Sarafoglou K, Cutler GB Jr, Sturgeon J, Roberts E, Lin VH, Chan JL, Farber RH; CAHtalyst Adult Trial Investigators. Auchus RJ, et al. N Engl J Med. 2024 Aug 8;391(6):504-514. doi: 10.1056/NEJMoa2404656. Epub 2024 Jun 1. N Engl J Med. 2024. PMID: 38828955 Free PMC article. Clinical Trial.
Phase 3 Trial of Crinecerfont in Pediatric Congenital Adrenal Hyperplasia.
Sarafoglou K, Kim MS, Lodish M, Felner EI, Martinerie L, Nokoff NJ, Clemente M, Fechner PY, Vogiatzi MG, Speiser PW, Auchus RJ, Rosales GBG, Roberts E, Jeha GS, Farber RH, Chan JL; CAHtalyst Pediatric Trial Investigators. Sarafoglou K, et al. Among authors: fechner py. N Engl J Med. 2024 Aug 8;391(6):493-503. doi: 10.1056/NEJMoa2404655. Epub 2024 Jun 2. N Engl J Med. 2024. PMID: 38828945 Clinical Trial.
Integration of child life services in the delivery of multi-disciplinary differences in Sexual Development (DSD) and Congenital Adrenal Hyperplasia (CAH) care.
Cheng JW, McCauley E, Nicassio LN, Fechner PY, Amies Oelschlager AE, Adam MP, Fisher C, Wetzler J, Kinsinger R, Nelson P, McCune N, Cain MP, Shnorhavorian M. Cheng JW, et al. Among authors: fechner py. J Pediatr Urol. 2022 Oct;18(5):612.e1-612.e6. doi: 10.1016/j.jpurol.2022.08.001. Epub 2022 Aug 18. J Pediatr Urol. 2022. PMID: 36031554
50 results