| 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 |
| 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 | 2 | 2023 |
| Homozygous CDH2 variant may be associated with hypopituitarism without neurological disorders NGBP Ferreira, JLO Madeira, P Gergics, R Kertsz, JM Marques, ... Endocrine Connections 12 (8), 2023 | | 2023 |
| p. Gln207Arg GH1 allelic variant associated to GH deficiency and specific intronic region may be a modulator of GH secretion T Sasson, A Dauber, A Jorge, A Pandey, I Arnhold, L Carvalho 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 |
| Potentially pathogenic variants identified by next-generation sequencing in patients with short stature of unknown origin N Sanguineti, P Scaglia, A Keselman, D Braslavsky, B Casali, ... IMPE Abstracts 96, 2023 | | 2023 |
| 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 | 6 | 2022 |
| Novel OTX2 loss of function variant associated with congenital hypopituitarism without eye abnormalities M Griffero, AFF Benedetti, M Pérez, L Carvalho, A Jorge, AC Latronico, ... Journal of Pediatric Endocrinology and Metabolism 35 (6), 831-835, 2022 | | 2022 |
| Contribution of clinical and genetic approaches for diagnosing 209 index cases with 46, XY differences of sex development NL Gomes, RL Batista, MY Nishi, AM Lerário, TE Silva, ... The Journal of Clinical Endocrinology & Metabolism 107 (5), e1797-e1806, 2022 | 24 | 2022 |
| 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 | 7 | 2022 |
| PROP1-related combined pituitary hormone deficiency LR Carvalho, MY Nishi, FA Correa, IJP Arnhold, BB Mendonca | 4 | 2022 |
| Cushing disease due to a somatic USP8 mutation in a patient with evolving pituitary hormone deficiencies due to a germline GH1 splicing variant JH Labello, AFF Benedetti, BV Azevedo, AAL Jorge, VAS Cescato, ... Archives of Endocrinology and Metabolism 66, 104-111, 2022 | 5 | 2022 |
| Crescimento GA Vasques, AAL Jorge, IJP Arnhold Endocrinologia e Metabologia, 2022 | | 2022 |
| 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 |
| High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency P Gergics, C Smith, H Bando, AAL Jorge, D Rockstroh-Lippold, ... The American Journal of Human Genetics 108 (8), 1526-1539, 2021 | 27 | 2021 |
| Allelic Variants in Established Hypopituitarism Genes Expand Our Knowledge of the Phenotypic Spectrum M Nakaguma, NGBP Ferreira, AFF Benedetti, MC Madi, JM Silva, JZ Li, ... Genes 12 (8), 1128, 2021 | 1 | 2021 |
| The phenotypic spectrum associated with OTX2 mutations in humans LC Gregory, P Gergics, M Nakaguma, H Bando, G Patti, MJ McCabe, ... European Journal of Endocrinology 185 (1), 121-135, 2021 | 19 | 2021 |
| Adult height in 299 patients with turner syndrome with or without growth hormone therapy: results and literature review NCB Dantas, AF Braz, A Malaquias, S Lemos-Marini, IJP Arnhold, ... Hormone Research in Paediatrics 94 (1-2), 63-70, 2021 | 11 | 2021 |
| Vasculometabolic effects in patients with congenital growth hormone deficiency with and without GH replacement therapy during adulthood IP Biscotto, VA Costa Hong, RL Batista, BB Mendonca, IJP Arnhold, ... Pituitary 24, 216-228, 2021 | 7 | 2021 |
| A Bayesian approach to diagnose growth hormone deficiency in children: insulin-like growth factor type 1 is valuable for screening and IGF-binding protein type 3 for confirmation TH Inoue-Lima, GA Vasques, M Nakaguma, LP Brito, BB Mendonça, ... Hormone research in paediatrics 93 (3), 197-205, 2020 | 9 | 2020 |
