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Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals.
Domenice S, Machado AZ, Ferreira FM, Ferraz-de-Souza B, Lerario AM, Lin L, Nishi MY, Gomes NL, da Silva TE, Silva RB, Correa RV, Montenegro LR, Narciso A, Costa EM, Achermann JC, Mendonca BB. Domenice S, et al. Among authors: montenegro lr. Birth Defects Res C Embryo Today. 2016 Dec;108(4):309-320. doi: 10.1002/bdrc.21145. Birth Defects Res C Embryo Today. 2016. PMID: 28033660 Free PMC article. Review.
[Phenotype variability in Noonan syndrome patients with and without PTPN11 mutation].
Ferreira LV, Souza SA, Montenegro LR, Arnhold IJ, Pasqualini T, Heinrich JJ, Keselman AC, Mendonça BB, Jorge AA. Ferreira LV, et al. Among authors: montenegro lr. Arq Bras Endocrinol Metabol. 2007 Apr;51(3):450-6. doi: 10.1590/s0004-27302007000300014. Arq Bras Endocrinol Metabol. 2007. PMID: 17546245 Portuguese.
Comparison between weight-based and IGF-I-based growth hormone (GH) dosing in the treatment of children with GH deficiency and influence of exon 3 deleted GH receptor variant.
Marchisotti FG, Jorge AA, Montenegro LR, Berger K, de Carvalho LR, Mendonca BB, Arnhold IJ. Marchisotti FG, et al. Among authors: montenegro lr. Growth Horm IGF Res. 2009 Apr;19(2):179-86. doi: 10.1016/j.ghir.2008.10.001. Epub 2008 Nov 25. Growth Horm IGF Res. 2009. PMID: 19036620
Central precocious puberty that appears to be sporadic caused by paternally inherited mutations in the imprinted gene makorin ring finger 3.
Macedo DB, Abreu AP, Reis AC, Montenegro LR, Dauber A, Beneduzzi D, Cukier P, Silveira LF, Teles MG, Carroll RS, Junior GG, Filho GG, Gucev Z, Arnhold IJ, de Castro M, Moreira AC, Martinelli CE Jr, Hirschhorn JN, Mendonca BB, Brito VN, Antonini SR, Kaiser UB, Latronico AC. Macedo DB, et al. Among authors: montenegro lr. J Clin Endocrinol Metab. 2014 Jun;99(6):E1097-103. doi: 10.1210/jc.2013-3126. Epub 2014 Mar 14. J Clin Endocrinol Metab. 2014. PMID: 24628548 Free PMC article.
FGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficiencies.
Correa FA, Trarbach EB, Tusset C, Latronico AC, Montenegro LR, Carvalho LR, Franca MM, Otto AP, Costalonga EF, Brito VN, Abreu AP, Nishi MY, Jorge AA, Arnhold IJ, Sidis Y, Pitteloud N, Mendonca BB. Correa FA, et al. Among authors: montenegro lr. Endocr Connect. 2015 Jun;4(2):100-7. doi: 10.1530/EC-15-0015. Epub 2015 Mar 10. Endocr Connect. 2015. PMID: 25759380 Free PMC article.
High Frequency of MKRN3 Mutations in Male Central Precocious Puberty Previously Classified as Idiopathic.
Bessa DS, Macedo DB, Brito VN, França MM, Montenegro LR, Cunha-Silva M, Silveira LG, Hummel T, Bergadá I, Braslavsky D, Abreu AP, Dauber A, Mendonca BB, Kaiser UB, Latronico AC. Bessa DS, et al. Among authors: montenegro lr. Neuroendocrinology. 2017;105(1):17-25. doi: 10.1159/000446963. Epub 2016 May 26. Neuroendocrinology. 2017. PMID: 27225315 Free PMC article.
44 results