Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

222 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
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: latronico ac. 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
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. Among authors: latronico ac. 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.
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: latronico ac. Neuroendocrinology. 2017;105(1):17-25. doi: 10.1159/000446963. Epub 2016 May 26. Neuroendocrinology. 2017. PMID: 27225315 Free PMC article.
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: latronico ac. J Clin Endocrinol Metab. 2019 Jun 1;104(6):2112-2120. doi: 10.1210/jc.2018-02010. J Clin Endocrinol Metab. 2019. PMID: 30462238
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. Among authors: latronico ac. Eur J Endocrinol. 2019 Aug 1;181(2):103-119. doi: 10.1530/EJE-18-0764. Eur J Endocrinol. 2019. PMID: 31200363
Pioneering studies on monogenic central precocious puberty.
Canton APM, Seraphim CE, Brito VN, Latronico AC. Canton APM, et al. Among authors: latronico ac. Arch Endocrinol Metab. 2019 Aug 22;63(4):438-444. doi: 10.20945/2359-3997000000164. Arch Endocrinol Metab. 2019. PMID: 31460623 Free PMC article. Review.
High Prevalence of Alterations in DNA Mismatch Repair Genes of Lynch Syndrome in Pediatric Patients with Adrenocortical Tumors Carrying a Germline Mutation on TP53.
Brondani VB, Montenegro L, Lacombe AMF, Magalhães BM, Nishi MY, Funari MFA, Narcizo AM, Cardoso LC, Siqueira SAC, Zerbini MCN, Denes FT, Latronico AC, Mendonca BB, Almeida MQ, Lerario AM, Soares IC, Fragoso MCBV. Brondani VB, et al. Among authors: latronico ac. Cancers (Basel). 2020 Mar 7;12(3):621. doi: 10.3390/cancers12030621. Cancers (Basel). 2020. PMID: 32156018 Free PMC article.
222 results