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Gabriela A. Vasques
Gabriela A. Vasques
Faculdade de Medicina da Universidade de São Paulo
Verified email at usp.br - Homepage
Title
Cited by
Cited by
Year
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
1312013
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
1212010
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
732015
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
722019
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
632014
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
582018
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
482019
Genetic causes of isolated short stature
GA Vasques, NLM Andrade, AAL Jorge
Archives of Endocrinology and Metabolism 63, 70-78, 2019
352019
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
302019
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
282016
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
162020
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
162017
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
152020
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
112020
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
112019
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
82020
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
82020
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
62022
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
62022
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
52022
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