Heterozygous Mutations in Natriuretic Peptide Receptor-B (NPR2) Gene as a Cause of Short Stature in Patients Initially Classified as Idiopathic Short Stature GA Vasques, N Amano, AJ Docko, MFA Funari, EPS Quedas, MY Nishi, ... The Journal of Clinical Endocrinology & Metabolism 98 (10), E1636-E1644, 2013 | 131 | 2013 |
Novel Heterozygous Nonsense GLI2 Mutations in Patients with Hypopituitarism and Ectopic Posterior Pituitary Lobe without Holoprosencephaly MM França, AAL Jorge, LRS Carvalho, EF Costalonga, GA Vasques, ... The Journal of Clinical Endocrinology & Metabolism 95 (11), E384-E391, 2010 | 121 | 2010 |
Heterozygous NPR2 Mutations Cause Disproportionate Short Stature, Similar to Léri-Weill Dyschondrosteosis A Hisado-Oliva, AI Garre-Vázquez, F Santaolalla-Caballero, A Belinchón, ... The Journal of Clinical Endocrinology & Metabolism 100 (8), E1133-E1142, 2015 | 73 | 2015 |
Multigene sequencing analysis of children born small for gestational age with isolated short stature BL Freire, TK Homma, MFA Funari, AM Lerario, GA Vasques, ... The Journal of Clinical Endocrinology & Metabolism 104 (6), 2023-2030, 2019 | 72 | 2019 |
Role of the natriuretic peptide system in normal growth and growth disorders GA Vasques, IJP Arnhold, AAL Jorge Hormone Research in Paediatrics 82 (4), 222-229, 2014 | 63 | 2014 |
IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy GA Vasques, MFA Funari, FM Ferreira, M Aza-Carmona, ... The Journal of Clinical Endocrinology & Metabolism 103 (2), 604-614, 2018 | 58 | 2018 |
Genetic disorders in prenatal onset syndromic short stature identified by exome sequencing TK Homma, BL Freire, RSH Kawahira, A Dauber, MF de Assis Funari, ... The Journal of Pediatrics 215, 192-198, 2019 | 48 | 2019 |
Genetic causes of isolated short stature GA Vasques, NLM Andrade, AAL Jorge Archives of Endocrinology and Metabolism 63, 70-78, 2019 | 35 | 2019 |
IGF-1 assessed by pubertal status has the best positive predictive power for GH deficiency diagnosis in peripubertal children TH Inoue-Lima, GA Vasques, RC Scalco, M Nakaguma, BB Mendonca, ... Journal of Pediatric Endocrinology and Metabolism 32 (2), 173-179, 2019 | 30 | 2019 |
Two patients with severe short stature due to a FBN1 mutation (p. Ala1728Val) with a mild form of acromicric dysplasia C De Bruin, C Finlayson, MFA Funari, GA Vasques, B Lucheze Freire, ... Hormone research in paediatrics 86 (5), 342-348, 2016 | 28 | 2016 |
Update on new GH-IGF axis genetic defects GA Vasques, NLM Andrade, FA Correa, AAL Jorge Archives of Endocrinology and Metabolism 63, 608-617, 2020 | 16 | 2020 |
Long-term response to growth hormone therapy in a patient with short stature caused by a novel heterozygous mutation in NPR2 GA Vasques, A Hisado-Oliva, MFA Funari, AM Lerario, EPS Quedas, ... Journal of Pediatric Endocrinology and Metabolism 30 (1), 111-116, 2017 | 16 | 2017 |
Clinical and genetic characterization of a constitutional delay of growth and puberty cohort PS Barroso, AAL Jorge, AM Lerario, LR Montenegro, GA Vasques, ... Neuroendocrinology 110 (11-12), 959-966, 2020 | 15 | 2020 |
Growth and clinical characteristics of children with Floating-Harbor syndrome: analysis of current original data and a review of the literature TK Homma, BL Freire, R Honjo, A Dauber, MFA Funari, AM Lerario, ... Hormone research in paediatrics 92 (2), 115-123, 2020 | 11 | 2020 |
Evaluation of SHOX defects in the era of next‐generation sequencing MFA Funari, JS de Barros, LS Santana, AM Lerario, BL Freire, TK Homma, ... Clinical genetics 96 (3), 261-265, 2019 | 11 | 2019 |
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 | 8 | 2020 |
Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants L Sentchordi-Montané, S Benito-Sanz, M Aza-Carmona, A Pereda, ... The Journal of Clinical Endocrinology & Metabolism 105 (8), 2654-2666, 2020 | 8 | 2020 |
High frequency of genetic/epigenetic disorders in short stature children born with very low birth weight BL Freire, TK Homma, AM Lerario, GH Seo, H Han, MF de Assis Funari, ... American Journal of Medical Genetics Part A 188 (9), 2599-2604, 2022 | 6 | 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 | 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 |