A GPR54-activating mutation in a patient with central precocious puberty MG Teles, SDC Bianco, VN Brito, EB Trarbach, W Kuohung, S Xu, ... New England Journal of Medicine 358 (7), 709-715, 2008 | 680 | 2008 |
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 | 313 | 2010 |
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 | 142 | 2008 |
Novel fibroblast growth factor receptor 1 mutations in patients with congenital hypogonadotropic hypogonadism with and without anosmia EB Trarbach, EMF Costa, B Versiani, M de Castro, MTM Baptista, ... The Journal of Clinical Endocrinology & Metabolism 91 (10), 4006-4012, 2006 | 129 | 2006 |
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 |
Genetics basis for GnRH-dependent pubertal disorders in humans LFG Silveira, EB Trarbach, AC Latronico Molecular and cellular endocrinology 324 (1-2), 30-38, 2010 | 96 | 2010 |
Genetic insights into human isolated gonadotropin deficiency EB Trarbach, LG Silveira, AC Latronico Pituitary 10, 381-391, 2007 | 95 | 2007 |
New genetic findings in a large cohort of congenital hypogonadotropic hypogonadism LGL Amato, LR Montenegro, AM Lerario, AAL Jorge, G Guerra Junior, ... European journal of endocrinology 181 (2), 103-119, 2019 | 80 | 2019 |
Mutational analysis of TAC3 and TACR3 genes in patients with idiopathic central pubertal disorders C Tusset, SD Noel, EB Trarbach, LFG Silveira, AAL Jorge, VN Brito, ... Arquivos Brasileiros de Endocrinologia & Metabologia 56, 646-652, 2012 | 68 | 2012 |
A novel homozygous splice acceptor site mutation of KISS1R in two siblings with normosmic isolated hypogonadotropic hypogonadism MG Teles, EB Trarbach, SD Noel, G Guerra-Junior, A Jorge, D Beneduzzi, ... European journal of endocrinology 163 (1), 29-34, 2010 | 67 | 2010 |
Role of gonadotropin-releasing hormone receptor mutations in patients with a wide spectrum of pubertal delay D Beneduzzi, EB Trarbach, L Min, AAL Jorge, HM Garmes, AC Renk, ... Fertility and sterility 102 (3), 838-846. e2, 2014 | 54 | 2014 |
Cabergoline in the management of residual nonfunctioning pituitary adenoma: a single-center, open-label, 2-year randomized clinical trial RL Batista, NRC Musolino, VAS Cescato, GO da Silva, RSS Medeiros, ... American Journal of Clinical Oncology 42 (2), 221-227, 2019 | 51 | 2019 |
Molecular analysis of KAL-1, GnRH-R, NELF and EBF2 genes in a series of Kallmann syndrome and normosmic hypogonadotropic hypogonadism patients EB Trarbach, MTM Baptista, HM Garmes, C Hackel Journal of endocrinology 187 (3), 361-368, 2005 | 49 | 2005 |
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, 2015 | 45 | 2015 |
Clinical assessment and molecular analysis of GnRHR and KAL1 genes in males with idiopathic hypogonadotrophic hypogonadism BR Versiani, E Trarbach, M Koenigkam‐Santos, AC Dos Santos, ... Clinical endocrinology 66 (2), 173-179, 2007 | 38 | 2007 |
Cushing’s disease due to somatic USP8 mutations: a systematic review and meta-analysis IQ Wanichi, BM de Paula Mariani, FP Frassetto, SAC Siqueira, ... Pituitary 22, 435-442, 2019 | 35 | 2019 |
Nonfunctioning pituitary adenoma recurrence and its relationship with sex, size, and hormonal immunohistochemical profile RL Batista, EB Trarbach, MD Marques, VA Cescato, GO da Silva, ... World neurosurgery 120, e241-e246, 2018 | 35 | 2018 |
Genetic predictors of long-term response to growth hormone (GH) therapy in children with GH deficiency and Turner syndrome: the influence of a SOCS2 polymorphism AF Braz, EF Costalonga, EB Trarbach, RC Scalco, AC Malaquias, ... The Journal of Clinical Endocrinology & Metabolism 99 (9), E1808-E1813, 2014 | 33 | 2014 |
The interactive effect of GHR-exon 3 and− 202 A/C IGFBP3 polymorphisms on rhGH responsiveness and treatment outcomes in patients with Turner syndrome AF Braz, EF Costalonga, LR Montenegro, EB Trarbach, SRR Antonini, ... The Journal of Clinical Endocrinology & Metabolism 97 (4), E671-E677, 2012 | 32 | 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 | 31 | 2010 |