Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and Puberty K Duckett, A Williamson, JWR Kincaid, K Rainbow, LJ Corbin, HC Martin, ... The Journal of Clinical Endocrinology & Metabolism 108 (12), e1580-e1587, 2023 | 6 | 2023 |
Adult Height of Patients with SHOX Haploinsufficiency with or without GH Therapy: A Real-World Single-Center Study NCB Dantas, MFA Funari, GA Vasques, NLM Andrade, RC Rezende, ... Hormone Research in Paediatrics 95 (3), 264-274, 2022 | 6 | 2022 |
Diagnostic yield of a multigene sequencing approach in children classified as idiopathic short stature NLM Andrade, MF de Assis Funari, AC Malaquias, PF Collett-Solberg, ... Endocrine Connections 11 (12), 2022 | 5 | 2022 |
Idiopathic short stature: what to expect from genomic investigations NLM Andrade, LP Cellin, RC Rezende, GA Vasques, AAL Jorge Endocrines 4 (1), 1-17, 2023 | 3 | 2023 |
Delayed puberty phenotype observed in Noonan syndrome is more pronounced in girls than boys RC Rezende, RM Noronha, A Keselman, EPS Quedas, NCB Dantas, ... Hormone Research in Paediatrics 95 (1), 51-61, 2022 | 3 | 2022 |
Identification of a second genetic alteration in patients with SHOX deficiency individuals: a potential explanation for phenotype variability NCB Dantas, MFA Funari, AM Lerário, NLM Andrade, RC Rezende, ... European Journal of Endocrinology 189 (3), 387-395, 2023 | 1 | 2023 |
Clinical Characteristics of Children with THRA mutations: Variable Phenotype and Good Response to rhGH Therapy NLM Andrade, RC Rezende, LG Crisostomo, NCB Dantas, LP Cellin, ... Hormone Research in Paediatrics, 2024 | | 2024 |
Exome Sequencing Identifies Multiple Genetic Diagnoses in Children with Syndromic Growth Disorders RC Rezende, NLM de Andrade, NCB Dantas, L de Polli Cellin, ... The Journal of Pediatrics 265, 113841, 2024 | | 2024 |
OR21-02 Diagnostic Yield Of A Multigene Approach In Children With Short Stature Of Unknown Cause NLM De Andrade, MF de Assis Funari, A Malaquias, NC Branco Dantas, ... Journal of the Endocrine Society 7 (Supplement_1), bvad114. 1520, 2023 | | 2023 |
THU160 A Prospective Genetic Analysis Of Children With Idiopathic Short Stature (ISS) Using Whole-exome Sequencing (WES): First Results L de Polli Cellin, NL Menezes De Andrade, RC Rezende, R Rezende, ... Journal of the Endocrine Society 7 (Supplement_1), bvad114. 1411, 2023 | | 2023 |
Several new candidate genes for self-limited delayed puberty revealed by whole exome sequencing R Rezende, E Schafer, L Kaisinger, N Dantas, N Andrade, L Cellin, ... IMPE Abstracts 96, 2023 | | 2023 |
Diagnostic yield of a multigene approach in children with short stature of unknown cause: It is time to remove the term idiopathic! N Andrade, M Funari, A Malaquias, N Dantas, R Rezende, L Cellin, ... IMPE Abstracts 96, 2023 | | 2023 |
Genetic evaluation in children with self-limited pubertal delay discloses new candidate genes R REZENDE, E SCHAFER, L KAISINGER, W HE, N ANDRADE, ... Hormone Research in Paediatrics, 2023 | | 2023 |
IDENTIFICATION OF NEW GENETIC MODIFIERS OF THE PHENOTYPE IN SHOX HAPLOINSUFFICIENCY NCB Dantas, MF Funari, NLM Andrade, RC Rezende, LP Cellin, ... Hormone Research in Paediatrics, 2023 | | 2023 |
COMPLETE GROWTH HORMONE GENE (GH1) DELETION IDENTIFIED BY WHOLE EXOME SEQUENCING (WES) DURING THE INVESTIGATION OF SHORT STATURE LP CELLIN, RC REZENDE, V SOUZA, NLM ANDRADE, NCB DANTAS, ... Hormone Research in Paediatrics, 2023 | | 2023 |
A prospective genetic analysis of children with idiopathic short stature (ISS) using whole-exome sequencing (WES): first results LP Cellin, NLM Andrade, RC Rezende, V SOUZA, NCB Dantas, ... Hormone Research in Paediatrics, 2023 | | 2023 |
Girls with short statute and Xp22; Yq11 translocation: should a prophylactic gonadectomy be recommended? NCB Dantas, MFA Funari, NLM Andrade, RC Rezende, LP Cellin, ... Hormone Research in Paediatrics, 2023 | | 2023 |
Prospective genetic analysis by a targeted gene panel of a cohort of patients classified as idiopathic short stature (ISS) N Andrade, M Funari, A Lerario, A Malaquias, P Solberg, N Lisboa, ... HORMONE RESEARCH IN PAEDIATRICS 94 (SUPPL 1), 35-35, 2021 | | 2021 |
Characterization of puberty development in a large cohort of patients with Noonan syndrome with molecular diagnosis R Rezende, A Jorge, R Noronha, A Keselman, N Andrade, N Dantas, ... Hormone Research in Paediatrics, 2021 | | 2021 |