Central Precocious Puberty Caused by Mutations in the Imprinted Gene MKRN3 AP Abreu, A Dauber, DB Macedo, SD Noel, VN Brito, JC Gill, P Cukier, ... New England Journal of Medicine 368 (26), 2467-2475, 2013 | 553 | 2013 |
Pubertal development and regulation AP Abreu, UB Kaiser The Lancet Diabetes & Endocrinology 4 (3), 254-264, 2016 | 528 | 2016 |
Mutations of the KISS1 Gene in Disorders of Puberty LG Silveira, SD Noel, AP Silveira-Neto, AP Abreu, VN Brito, MG Santos, ... The Journal of Clinical Endocrinology & Metabolism 95 (5), 2276-2280, 2010 | 403 | 2010 |
TAC3/TACR3 Mutations Reveal Preferential Activation of Gonadotropin-Releasing Hormone Release by Neurokinin B in Neonatal Life Followed by Reversal in … E Gianetti, C Tusset, SD Noel, MG Au, AA Dwyer, VA Hughes, AP Abreu, ... The Journal of Clinical Endocrinology & Metabolism 95 (6), 2857-2867, 2010 | 315 | 2010 |
Paternally Inherited DLK1 Deletion Associated With Familial Central Precocious Puberty A Dauber, M Cunha-Silva, DB Macedo, VN Brito, AP Abreu, SA Roberts, ... The Journal of Clinical Endocrinology & Metabolism 102 (5), 1557-1567, 2017 | 182 | 2017 |
Central precocious puberty that appears to be sporadic caused by paternally inherited mutations in the imprinted gene makorin ring finger 3 DB Macedo, AP Abreu, ACS Reis, LR Montenegro, A Dauber, ... The Journal of Clinical Endocrinology & Metabolism 99 (6), E1097-E1103, 2014 | 151 | 2014 |
Loss-of-function mutations in the genes encoding prokineticin-2 or prokineticin receptor-2 cause autosomal recessive Kallmann syndrome AP Abreu, EB Trarbach, M de Castro, EM Frade Costa, B Versiani, ... The Journal of Clinical Endocrinology & Metabolism 93 (10), 4113-4118, 2008 | 143 | 2008 |
A new pathway in the control of the initiation of puberty: the MKRN3 gene AP Abreu, DB Macedo, VN Brito, UB Kaiser, AC Latronico Journal of molecular endocrinology 54 (3), R131-R139, 2015 | 136 | 2015 |
Nonsense Mutations in FGF8 Gene Causing Different Degrees of Human Gonadotropin-Releasing Deficiency EB Trarbach, AP Abreu, LFG Silveira, HM Garmes, MTM Baptista, ... The Journal of Clinical Endocrinology & Metabolism 95 (7), 3491-3496, 2010 | 98 | 2010 |
MKRN3 Mutations in Central Precocious Puberty: A Systematic Review and Meta-Analysis LP Valadares, CG Meireles, IP De Toledo, R Santarem de Oliveira, ... Journal of the Endocrine Society 3 (5), 979-995, 2019 | 93 | 2019 |
MKRN3 inhibits the reproductive axis through actions in kisspeptin-expressing neurons AP Abreu, CA Toro, YB Song, VM Navarro, MA Bosch, A Eren, JN Liang, ... The Journal of Clinical Investigation, 2020 | 90 | 2020 |
High frequency of MKRN3 mutations in male central precocious puberty previously classified as idiopathic DS Bessa, DB Macedo, VN Brito, MM França, LR Montenegro, ... Neuroendocrinology 105 (1), 17-25, 2017 | 69 | 2017 |
Hypothalamic miR-30 regulates puberty onset via repression of the puberty-suppressing factor, Mkrn3 V Heras, S Sangiao-Alvarellos, M Manfredi-Lozano, MJ Sanchez-Tapia, ... PLoS biology 17 (11), 2019 | 57 | 2019 |
Evidence of the importance of the first intracellular loop of prokineticin receptor 2 in receptor function AP Abreu, SD Noel, S Xu, RS Carroll, AC Latronico, UB Kaiser Molecular endocrinology 26 (8), 1417-1427, 2012 | 47 | 2012 |
FGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficiencies FA Correa, EB Trarbach, C Tusset, AC Latronico, LR Montenegro, ... Endocrine connections 4 (2), 100-107, 2015 | 45 | 2015 |
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 | 41 | 2021 |
The role of prokineticins in the pathogenesis of hypogonadotropic hypogonadism AP Abreu, UB Kaiser, AC Latronico Neuroendocrinology 91 (4), 283-290, 2010 | 39 | 2010 |
An ancient founder mutation in PROKR2 impairs human reproduction M Avbelj Stefanija, M Jeanpierre, GP Sykiotis, J Young, R Quinton, ... Human molecular genetics 21 (19), 4314-4324, 2012 | 35 | 2012 |
Screening of autosomal gene deletions in patients with hypogonadotropic hypogonadism using multiplex ligation‐dependent probe amplification: detection of a hemizygosis for the … EB Trarbach, MG Teles, EMF Costa, AP Abreu, HM Garmes, G Guerra, ... Clinical endocrinology 72 (3), 371-376, 2010 | 32 | 2010 |
CENTRAL PRECOCIOUS PUBERTY CAUSED BY A HETEROZYGOUS DELETION IN THE MKRN3 PROMOTER REGION DB Macedo, MM França, LR Montenegro, M Cunha-Silva, DS Bessa, ... Neuroendocrinology, 2018 | 30 | 2018 |