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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: canton a. 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
Novel Genetic and Biochemical Findings of DLK1 in Children with Central Precocious Puberty: A Brazilian-Spanish Study.
Montenegro L, Labarta JI, Piovesan M, Canton APM, Corripio R, Soriano-Guillén L, Travieso-Suárez L, Martín-Rivada Á, Barrios V, Seraphim CE, Brito VN, Latronico AC, Argente J. Montenegro L, et al. Among authors: canton apm. J Clin Endocrinol Metab. 2020 Oct 1;105(10):dgaa461. doi: 10.1210/clinem/dgaa461. J Clin Endocrinol Metab. 2020. PMID: 32676665
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: canton a. J Clin Endocrinol Metab. 2019 Jun 1;104(6):2112-2120. doi: 10.1210/jc.2018-02010. J Clin Endocrinol Metab. 2019. PMID: 30462238
Methylome profiling of healthy and central precocious puberty girls.
Bessa DS, Maschietto M, Aylwin CF, Canton APM, Brito VN, Macedo DB, Cunha-Silva M, Palhares HMC, de Resende EAMR, Borges MF, Mendonca BB, Netchine I, Krepischi ACV, Lomniczi A, Ojeda SR, Latronico AC. Bessa DS, et al. Among authors: canton apm. Clin Epigenetics. 2018 Nov 22;10(1):146. doi: 10.1186/s13148-018-0581-1. Clin Epigenetics. 2018. PMID: 30466473 Free PMC article.
Diagnosis and management of Silver-Russell syndrome: first international consensus statement.
Wakeling EL, Brioude F, Lokulo-Sodipe O, O'Connell SM, Salem J, Bliek J, Canton AP, Chrzanowska KH, Davies JH, Dias RP, Dubern B, Elbracht M, Giabicani E, Grimberg A, Grønskov K, Hokken-Koelega AC, Jorge AA, Kagami M, Linglart A, Maghnie M, Mohnike K, Monk D, Moore GE, Murray PG, Ogata T, Petit IO, Russo S, Said E, Toumba M, Tümer Z, Binder G, Eggermann T, Harbison MD, Temple IK, Mackay DJ, Netchine I. Wakeling EL, et al. Among authors: canton ap. Nat Rev Endocrinol. 2017 Feb;13(2):105-124. doi: 10.1038/nrendo.2016.138. Epub 2016 Sep 2. Nat Rev Endocrinol. 2017. PMID: 27585961
Height and body mass index in molecularly confirmed Silver-Russell syndrome and the long-term effects of growth hormone treatment.
Lokulo-Sodipe O, Giabicani E, Canton APM, Ferrand N, Child J, Wakeling EL, Binder G, Netchine I, Mackay DJG, Inskip HM, Byrne CD, Temple IK, Davies JH. Lokulo-Sodipe O, et al. Clin Endocrinol (Oxf). 2022 Sep;97(3):284-292. doi: 10.1111/cen.14715. Epub 2022 Mar 21. Clin Endocrinol (Oxf). 2022. PMID: 35261046 Free PMC article.
132 results