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Impact of Growth Hormone Therapy on Adult Height in Patients with PTPN11 Mutations Related to Noonan Syndrome.
Malaquias AC, Noronha RM, Souza TTO, Homma TK, Funari MFA, Yamamoto GL, Silva FV, Moraes MB, Honjo RS, Kim CA, Nesi-França S, Carvalho JAR, Quedas EPS, Bertola DR, Jorge AAL. Malaquias AC, et al. Among authors: funari mfa. Horm Res Paediatr. 2019;91(4):252-261. doi: 10.1159/000500264. Epub 2019 May 27. Horm Res Paediatr. 2019. PMID: 31132774 Clinical Trial.
Effectiveness of the combined recombinant human growth hormone and gonadotropin-releasing hormone analog therapy in pubertal patients with short stature due to SHOX deficiency.
Scalco RC, Melo SS, Pugliese-Pires PN, Funari MF, Nishi MY, Arnhold IJ, Mendonca BB, Jorge AA. Scalco RC, et al. J Clin Endocrinol Metab. 2010 Jan;95(1):328-32. doi: 10.1210/jc.2009-1577. Epub 2009 Nov 19. J Clin Endocrinol Metab. 2010. PMID: 19926713 Free PMC article. Clinical Trial.
Usefulness of MLPA in the detection of SHOX deletions.
Funari MF, Jorge AA, Souza SC, Billerbeck AE, Arnhold IJ, Mendonca BB, Nishi MY. Funari MF, et al. Eur J Med Genet. 2010 Sep-Oct;53(5):234-8. doi: 10.1016/j.ejmg.2010.06.001. Epub 2010 Jun 9. Eur J Med Genet. 2010. PMID: 20538086 Free article.
Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations.
Gkourogianni A, Andrew M, Tyzinski L, Crocker M, Douglas J, Dunbar N, Fairchild J, Funari MF, Heath KE, Jorge AA, Kurtzman T, LaFranchi S, Lalani S, Lebl J, Lin Y, Los E, Newbern D, Nowak C, Olson M, Popovic J, Pruhová Š, Elblova L, Quintos JB, Segerlund E, Sentchordi L, Shinawi M, Stattin EL, Swartz J, Angel AG, Cuéllar SD, Hosono H, Sanchez-Lara PA, Hwa V, Baron J, Nilsson O, Dauber A. Gkourogianni A, et al. J Clin Endocrinol Metab. 2017 Feb 1;102(2):460-469. doi: 10.1210/jc.2016-3313. J Clin Endocrinol Metab. 2017. PMID: 27870580 Free PMC article.
41 results