Diagnosis and management of Silver-Russell syndrome: first international consensus statement Nature Reviews Endocrinology 13 (2), 105-124, 2017 | 480 | 2017 |
DLK1 Is a Novel Link Between Reproduction and Metabolism LG Gomes, M Cunha-Silva, RP Crespo, CO Ramos, LR Montenegro, ... The Journal of Clinical Endocrinology & Metabolism 104 (6), 2112-2120, 2019 | 105 | 2019 |
Chromosome 14q32. 2 imprinted region disruption as an alternative molecular diagnosis of Silver-Russell syndrome S Geoffron, W Abi Habib, S Chantot-Bastaraud, B Dubern, V Steunou, ... The Journal of Clinical Endocrinology & Metabolism 103 (7), 2436-2446, 2018 | 58 | 2018 |
Genome-wide screening of copy number variants in children born small for gestational age reveals several candidate genes involved in growth pathways. JAAL Canton APM, Costa SS, Rodrigues TC, Bertola DR, Malaquias AC, Correa FA ... Eur J Endocrinol 171, 253-262, 2014 | 52 | 2014 |
Methylome profiling of healthy and central precocious puberty girls DS Bessa, M Maschietto, CF Aylwin, APM Canton, VN Brito, DB Macedo, ... Clinical epigenetics 10, 1-18, 2018 | 48 | 2018 |
Pioneering studies on monogenic central precocious puberty APM Canton, CE Seraphim, VN Brito, AC Latronico Archives of endocrinology and metabolism 63, 438-444, 2019 | 46 | 2019 |
Genotype–Phenotype Correlations in Central Precocious Puberty Caused by MKRN3 Mutations CE Seraphim, APM Canton, L Montenegro, MR Piovesan, DB Macedo, ... The Journal of Clinical Endocrinology & Metabolism 106 (4), e1041-e1050, 2021 | 44 | 2021 |
Recurrent copy number variants associated with syndromic short stature of unknown cause TK Homma, ACV Krepischi, TK Furuya, RS Honjo, AC Malaquias, ... Hormone research in paediatrics 89 (1), 13-21, 2018 | 40 | 2018 |
Novel genetic and biochemical findings of DLK1 in children with central precocious puberty: a Brazilian–Spanish Study L Montenegro, JI Labarta, M Piovesan, APM Canton, R Corripio, ... The Journal of Clinical Endocrinology & Metabolism 105 (10), 3165-3172, 2020 | 36 | 2020 |
The congenital and acquired mechanisms implicated in the etiology of central precocious puberty VN Brito, APM Canton, CE Seraphim, AP Abreu, DB Macedo, ... Endocrine reviews 44 (2), 193-221, 2023 | 27 | 2023 |
Outcomes of patients with central precocious puberty due to loss-of-function mutations in the MKRN3 gene after treatment with gonadotropin-releasing hormone analog CO Ramos, DB Macedo, APM Canton, M Cunha-Silva, SRR Antonini, ... Neuroendocrinology 110 (7-8), 705-713, 2020 | 23 | 2020 |
Insights from the genetic characterization of central precocious puberty associated with multiple anomalies APM Canton, ACV Krepischi, LR Montenegro, S Costa, C Rosenberg, ... Human Reproduction 36 (2), 506-518, 2021 | 22 | 2021 |
Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including … JL Granadillo, APA Stegmann, H Guo, K Xia, B Angle, K Bontempo, ... Journal of medical genetics 57 (10), 717-724, 2020 | 21 | 2020 |
Mutations in insulin-like growth factor receptor 1 gene (IGF1R) resulting in intrauterine and postnatal growth retardation AC Leal, APM Canton, LR Montenegro, DC Coutinho, IJP Arnhold, ... Arquivos brasileiros de endocrinologia e metabologia, 2011 | 19 | 2011 |
Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes MBB 2. Correa FA, Jorge AAL, Nakaguma M, Canton APM, Costa SS, Funari MF ... Clin Endocrinol, 2017 | 12* | 2017 |
Good response to long‐term therapy with growth hormone in a patient with 9p trisomy syndrome: A case report and review of the literature APM Canton, MY Nishi, TK Furuya, RA Roela, AAL Jorge American Journal of Medical Genetics Part A 170 (4), 1046-1049, 2016 | 10 | 2016 |
Rare variants in the MECP2 gene in girls with central precocious puberty: a translational cohort study APM Canton, FR Tinano, L Guasti, LR Montenegro, F Ryan, D Shears, ... The Lancet Diabetes & Endocrinology 11 (8), 545-554, 2023 | 9 | 2023 |
Clinical and genetic characterization of familial central precocious puberty FR Tinano, APM Canton, LR Montenegro, A de Castro Leal, AG Faria, ... The Journal of Clinical Endocrinology & Metabolism 108 (7), 1758-1767, 2023 | 9 | 2023 |
De novo duplication of chromosome 9p in a female infant: phenotype and genotype correlation PE Leone, A Pérez-Villa, V Yumiceba, MÁ Hernández, ... Journal of Pediatric Genetics 9 (01), 069-075, 2020 | 8 | 2020 |
Height and body mass index in molecularly confirmed Silver–Russell syndrome and the long‐term effects of growth hormone treatment O Lokulo‐Sodipe, E Giabicani, APM Canton, N Ferrand, J Child, ... Clinical Endocrinology 97 (3), 284-292, 2022 | 6 | 2022 |