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Ana Pinheiro Machado Canton
Ana Pinheiro Machado Canton
Médica, Pós-doutoranda, Faculdade de Medicina da Universidade de São Paulo
在 usp.br 的电子邮件经过验证
标题
引用次数
引用次数
年份
Diagnosis and management of Silver-Russell syndrome: first international consensus statement
Nature Reviews Endocrinology 13 (2), 105-124, 2017
4802017
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
1052019
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
582018
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
522014
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
482018
Pioneering studies on monogenic central precocious puberty
APM Canton, CE Seraphim, VN Brito, AC Latronico
Archives of endocrinology and metabolism 63, 438-444, 2019
462019
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
442021
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
402018
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
362020
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
272023
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
232020
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
222021
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
212020
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
192011
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
102016
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
92023
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
92023
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
82020
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
62022
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