Articles with public access mandates - Berenice Bilharinho de MendonçaLearn more
Not available anywhere: 14
WT1 pathogenic variants are associated with a broad spectrum of differences in sex development phenotypes and heterogeneous progression of renal disease
M Ferrari, A Watanabe, TE da Silva, NL Gomes, RL Batista, MY Nishi, ...
Sexual Development 16 (1), 46-54, 2022
Mandates: Fundação de Amparo à Pesquisa do Estado de São Paulo
Clinical and genetic characterization of familial central precocious puberty
FR Tinano, APM Canton, LR Montenegro, A de Castro Leal, AG Faria, ...
The Journal of Clinical Endocrinology & Metabolism 108 (7), 1758-1767, 2023
Mandates: Fundação de Amparo à Pesquisa do Estado de São Paulo
Intra-individual variability of serum aldosterone and implications for primary aldosteronism screening
AAW Maciel, TC Freitas, GFC Fagundes, J Petenuci, LAP Vilela, LP Brito, ...
The Journal of Clinical Endocrinology & Metabolism 108 (5), 1143-1153, 2023
Mandates: Fundação de Amparo à Pesquisa do Estado de São Paulo
Association study of GWAS-derived loci with height in Brazilian children: importance of MAP3K3, MMP24 and IGF1R polymorphisms for height variation
E Gadelha Pereira Fontenele, ME Amaral de Moraes, C Brasil d'Alva, ...
Hormone Research in Paediatrics 84 (4), 248-253, 2015
Mandates: US National Institutes of Health
Genetics, clinical features and outcomes of non-syndromic pituitary gigantism: experience of a single center from Sao Paulo, Brazil
EB Trarbach, G Trivellin, IPP Grande, FHG Duarte, AAL Jorge, ...
Pituitary 24, 252-261, 2021
Mandates: US National Institutes of Health
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
Mandates: Fundação de Amparo à Pesquisa do Estado de São Paulo
Discordant genotypic sex and phenotype variations in two Spanish siblings with 17α-hydroxylase/17, 20-lyase deficiency carrying the most prevalent mutated CYP17A1 alleles of …
M Fernández-Cancio, E García-García, C González-Cejudo, ...
Sexual Development 11 (2), 70-77, 2017
Mandates: Government of Spain
A small supernumerary xp marker chromosome including genes NR0B1 and MAGEB causing partial gonadal dysgenesis and gonadoblastoma
MY Nishi, JAD Faria Júnior, ACV Krepischi, DR de Moraes, SS da Costa, ...
Sexual Development 16 (1), 55-63, 2022
Mandates: Fundação de Amparo à Pesquisa do Estado de São Paulo
Evidence for a Founder Effect of SDHB Exon 1 Deletion in Brazilian Patients With Paraganglioma
GFC Fagundes, F Freitas-Castro, LS Santana, ACF Afonso, J Petenuci, ...
The Journal of Clinical Endocrinology & Metabolism 108 (8), 2105-2114, 2023
Mandates: Fundação de Amparo à Pesquisa do Estado de São Paulo
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
Mandates: Fundação de Amparo à Pesquisa do Estado de São Paulo
Genetic Investigation of Regulatory Regions of MKRN3 and DLK1 Genes in Children with Central Precocious Puberty
M Piovesan, L Baracho Macena, A de Lima Jorge, HP Lima-Valassi, ...
Hormone Research in Paediatrics, 1-13, 2024
Mandates: Fundação de Amparo à Pesquisa do Estado de São Paulo
Small Indels in the Androgen Receptor Gene: Phenotype Implications and Mechanisms of Mutagenesis
RM Ramos, RJ Petroli, NDR D’Alessandre, GDA Guardia, ACF Afonso, ...
The Journal of Clinical Endocrinology & Metabolism 109 (1), 68-79, 2024
Mandates: Fundação de Amparo à Pesquisa do Estado de São Paulo
46, XY differences of sex development (DSD) due to 17β-hydroxysteroid dehydrogenase type 3 deficiency
NL Gomes, EMF Costa, M Inacio, RM Martin, MY Nishi, FM Carvalho, ...
Genetic Steroid Disorders, 289-299, 2023
Mandates: Fundação de Amparo à Pesquisa do Estado de São Paulo
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
Mandates: Fundação de Amparo à Pesquisa do Estado de São Paulo
Available somewhere: 65
Comprehensive pan-genomic characterization of adrenocortical carcinoma
S Zheng, AD Cherniack, N Dewal, RA Moffitt, L Danilova, BA Murray, ...
Cancer cell 29 (5), 723-736, 2016
Mandates: US National Institutes of Health
Central precocious puberty caused by mutations in the imprinted gene MKRN3
AP Abreu, A Dauber, DB Macedo, SD Noel, VN Brito, JC Gill, P Cukier, ...
New England Journal of Medicine 368 (26), 2467-2475, 2013
Mandates: US National Institutes of Health
Mutations of the KISS1 Gene in Disorders of Puberty
LG Silveira, SD Noel, AP Silveira-Neto, AP Abreu, VN Brito, MG Santos, ...
The Journal of Clinical Endocrinology & Metabolism 95 (5), 2276-2280, 2010
Mandates: US National Institutes of Health
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
Mandates: US National Institutes of Health
Paternally Inherited DLK1 Deletion Associated With Familial Central Precocious Puberty
A Dauber, M Cunha-Silva, DB Macedo, VN Brito, AP Abreu, SA Roberts, ...
The Journal of Clinical Endocrinology & Metabolism 102 (5), 1557-1567, 2017
Mandates: US National Institutes of Health
Molecular mechanisms of pituitary organogenesis: in search of novel regulatory genes
SW Davis, F Castinetti, LR Carvalho, BS Ellsworth, MA Potok, RH Lyons, ...
Molecular and cellular endocrinology 323 (1), 4-19, 2010
Mandates: US National Institutes of Health
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