Montenegro L - Search Results

1

Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD.

Granadillo JL, P A Stegmann A, Guo H, Xia K, Angle B, Bontempo K, Ranells JD, Newkirk P, Costin C, Viront J, Stumpel CT, Sinnema M, Panis B, Pfundt R, Krapels IPC, Klaassens M, Nicolai J, Li J, Jiang Y, Marco E, Canton A, Latronico AC, Montenegro L, Leheup B, Bonnet C, M Amudhavalli S, Lawson CE, McWalter K, Telegrafi A, Pearson R, Kvarnung M, Wang X, Bi W, Rosenfeld JA, Shinawi M. Granadillo JL, et al. Among authors: montenegro l. J Med Genet. 2020 Oct;57(10):717-724. doi: 10.1136/jmedgenet-2019-106470. Epub 2020 Mar 9. J Med Genet. 2020. PMID: 32152250

2

[Clinical and molecular aspects of congenital isolated hypogonadotropic hypogonadism].

Tusset C, Trarbach EB, Silveira LF, Beneduzzi D, Montenegro L, Latronico AC. Tusset C, et al. Among authors: montenegro l. Arq Bras Endocrinol Metabol. 2011 Nov;55(8):501-11. doi: 10.1590/s0004-27302011000800002. Arq Bras Endocrinol Metabol. 2011. PMID: 22218430 Review. Portuguese.

3

[Mutations in insulin-like growth factor receptor 1 gene (IGF1R) resulting in intrauterine and postnatal growth retardation].

Leal Ade C, Canton AP, Montenegro LR, Coutinho DC, Arnhold IJ, Jorge AA. Leal Ade C, et al. Arq Bras Endocrinol Metabol. 2011 Nov;55(8):541-9. doi: 10.1590/s0004-27302011000800007. Arq Bras Endocrinol Metabol. 2011. PMID: 22218435 Review. Portuguese.

4

Combined use of multiplex ligation-dependent probe amplification and automatic sequencing for identification of KAL1 defects in patients with Kallmann syndrome.

Montenegro LR, Silveira LF, Tusset C, de Castro M, Versiani BR, Latronico AC, Mendonca BB, Trarbach EB. Montenegro LR, et al. Fertil Steril. 2013 Sep;100(3):854-9. doi: 10.1016/j.fertnstert.2013.04.045. Epub 2013 May 28. Fertil Steril. 2013. PMID: 23721716 Free article.

5

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. Neuroendocrinology. 2017;105(1):17-25. doi: 10.1159/000446963. Epub 2016 May 26. Neuroendocrinology. 2017. PMID: 27225315 Free PMC article.

6

Effects of Type 1 Insulin-Like Growth Factor Receptor Silencing in a Human Adrenocortical Cell Line.

Ribeiro TC, Jorge AA, Montenegro LR, Almeida MQ, Ferraz-de-Souza B, Nishi MY, Mendonca BB, Latronico AC. Ribeiro TC, et al. Among authors: montenegro lr. Horm Metab Res. 2016 Jul;48(7):484-8. doi: 10.1055/s-0042-108196. Epub 2016 May 31. Horm Metab Res. 2016. PMID: 27246621

7

Paternally Inherited DLK1 Deletion Associated With Familial Central Precocious Puberty.

Dauber A, Cunha-Silva M, Macedo DB, Brito VN, Abreu AP, Roberts SA, Montenegro LR, Andrew M, Kirby A, Weirauch MT, Labilloy G, Bessa DS, Carroll RS, Jacobs DC, Chappell PE, Mendonca BB, Haig D, Kaiser UB, Latronico AC. Dauber A, et al. J Clin Endocrinol Metab. 2017 May 1;102(5):1557-1567. doi: 10.1210/jc.2016-3677. J Clin Endocrinol Metab. 2017. PMID: 28324015 Free PMC article.

8

Central Precocious Puberty Caused by a Heterozygous Deletion in the MKRN3 Promoter Region.

Macedo DB, França MM, Montenegro LR, Cunha-Silva M, Best DS, Abreu AP, Kaiser UB, Mendonca BB, Jorge AAL, Brito VN, Latronico AC. Macedo DB, et al. Among authors: montenegro lr. Neuroendocrinology. 2018;107(2):127-132. doi: 10.1159/000490059. Epub 2018 May 15. Neuroendocrinology. 2018. PMID: 29763903 Free PMC article.

9

DLK1 Is a Novel Link Between Reproduction and Metabolism.

Gomes LG, Cunha-Silva M, Crespo RP, Ramos CO, Montenegro LR, Canton A, Lees M, Spoudeas H, Dauber A, Macedo DB, Bessa DS, Maciel GA, Baracat EC, Jorge AAL, Mendonca BB, Brito VN, Latronico AC. Gomes LG, et al. Among authors: montenegro lr. J Clin Endocrinol Metab. 2019 Jun 1;104(6):2112-2120. doi: 10.1210/jc.2018-02010. J Clin Endocrinol Metab. 2019. PMID: 30462238

10

New genetic findings in a large cohort of congenital hypogonadotropic hypogonadism.

Amato LGL, Montenegro LR, Lerario AM, Jorge AAL, Guerra Junior G, Schnoll C, Renck AC, Trarbach EB, Costa EMF, Mendonca BB, Latronico AC, Silveira LFG. Amato LGL, et al. Eur J Endocrinol. 2019 Aug 1;181(2):103-119. doi: 10.1530/EJE-18-0764. Eur J Endocrinol. 2019. PMID: 31200363

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