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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2005 2
2006 2
2007 1
2008 2
2009 1
2011 3
2012 2
2013 3
2014 3
2015 2
2016 4
2017 2
2018 1
2019 3
2020 7
2021 6
2022 3
2023 4
2024 0

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43 results

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Page 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
Rare variants in the MECP2 gene in girls with central precocious puberty: a translational cohort study.
Canton APM, Tinano FR, Guasti L, Montenegro LR, Ryan F, Shears D, de Melo ME, Gomes LG, Piana MP, Brauner R, Espino-Aguilar R, Escribano-Muñoz A, Paganoni A, Read JE, Korbonits M, Seraphim CE, Costa SS, Krepischi AC, Jorge AAL, David A, Kaisinger LR, Ong KK, Perry JRB, Abreu AP, Kaiser UB, Argente J, Mendonca BB, Brito VN, Howard SR, Latronico AC. Canton APM, et al. Among authors: montenegro lr. Lancet Diabetes Endocrinol. 2023 Aug;11(8):545-554. doi: 10.1016/S2213-8587(23)00131-6. Epub 2023 Jun 26. Lancet Diabetes Endocrinol. 2023. PMID: 37385287 Free PMC article.
Clinical and Genetic Characterization of Familial Central Precocious Puberty.
Tinano FR, Canton APM, Montenegro LR, de Castro Leal A, Faria AG, Seraphim CE, Brauner R, Jorge AA, Mendonca BB, Argente J, Brito VN, Latronico AC. Tinano FR, et al. Among authors: montenegro lr. J Clin Endocrinol Metab. 2023 Jun 16;108(7):1758-1767. doi: 10.1210/clinem/dgac763. J Clin Endocrinol Metab. 2023. PMID: 36611250
Novel MKRN3 Missense Mutations Associated With Central Precocious Puberty Reveal Distinct Effects on Ubiquitination.
Magnotto JC, Mancini A, Bird K, Montenegro L, Tütüncüler F, Pereira SA, Simas V, Garcia L, Roberts SA, Macedo D, Magnuson M, Gagliardi P, Mauras N, Witchel SF, Carroll RS, Latronico AC, Kaiser UB, Abreu AP. Magnotto JC, et al. Among authors: montenegro l. J Clin Endocrinol Metab. 2023 Jun 16;108(7):1646-1656. doi: 10.1210/clinem/dgad151. J Clin Endocrinol Metab. 2023. PMID: 36916482 Free PMC article.
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.
Role of the Mevalonate Pathway in Adrenocortical Tumorigenesis.
Lima-Valassi HP, Lerario AM, Montenegro LR, Fragoso MCBV, Almeida MQ, Mendonca BB, Lin CJ. Lima-Valassi HP, et al. Among authors: montenegro lr. Horm Metab Res. 2021 Feb;53(2):124-131. doi: 10.1055/a-1322-2943. Epub 2020 Dec 11. Horm Metab Res. 2021. PMID: 33307558
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
Genotype-Phenotype Correlations in Central Precocious Puberty Caused by MKRN3 Mutations.
Seraphim CE, Canton APM, Montenegro L, Piovesan MR, Macedo DB, Cunha M, Guimaraes A, Ramos CO, Benedetti AFF, de Castro Leal A, Gagliardi PC, Antonini SR, Gryngarten M, Arcari AJ, Abreu AP, Kaiser UB, Soriano-Guillén L, Escribano-Muñoz A, Corripio R, Labarta JI, Travieso-Suárez L, Ortiz-Cabrera NV, Argente J, Mendonca BB, Brito VN, Latronico AC. Seraphim CE, et al. Among authors: montenegro l. J Clin Endocrinol Metab. 2021 Mar 25;106(4):1041-1050. doi: 10.1210/clinem/dgaa955. J Clin Endocrinol Metab. 2021. PMID: 33383582 Free PMC article.
43 results