S. R. Antonini

发表

Central precocious puberty that appears to be sporadic caused by paternally inherited mutations in the imprinted gene makorin ring finger 3.

J. Hirschhorn, Z. Gucev, R. Carroll, 2014, The Journal of clinical endocrinology and metabolism.

Recurrence of the R947X mutation in unrelated families with autosomal dominant pseudohypoaldosteronism type 1: evidence for a mutational hot spot in the mineralocorticoid receptor gene.

M. de Castro, F. Fernandes-Rosa, A. Latronico, 2006, The Journal of clinical endocrinology and metabolism.

The -202 A allele of insulin-like growth factor binding protein-3 (IGFBP3) promoter polymorphism is associated with higher IGFBP-3 serum levels and better growth response to growth hormone treatment in patients with severe growth hormone deficiency.

G. Guerra‐Júnior, B. Mendonca, I. Arnhold, 2009, The Journal of clinical endocrinology and metabolism.

Adrenocortical neoplasms in adulthood and childhood: distinct presentation. Review of the clinical, pathological and imaging characteristics

V. Muglia, J. Elias, S. Tucci, 2017, Journal of pediatric endocrinology & metabolism : JPEM.

The interactive effect of GHR-exon 3 and -202 A/C IGFBP3 polymorphisms on rhGH responsiveness and treatment outcomes in patients with Turner syndrome.

L. Montenegro, B. Mendonca, I. Arnhold, 2012, The Journal of clinical endocrinology and metabolism.

MicroRNA-149-3p expression correlates with outcomes of adrenocortical tumor patients and affects proliferation and cell cycle progression of H295A adrenocortical cancer cell line

C. Scrideli, L. Tone, J. A. Yunes, 2022, Human Cell.

Long‐term treatment of familial male‐limited precocious puberty (testotoxicosis) with cyproterone acetate or ketoconazole

G. Guerra‐Júnior, M. de Castro, A. Latronico, 2008, Clinical endocrinology.

Vitamin D receptor activation is a feasible therapeutic target to impair adrenocortical tumorigenesis

F. Ramalho, M. de Castro, A. P. Montaldi, 2022, Molecular and Cellular Endocrinology.

Evaluating the roles of follicle-stimulating hormone receptor polymorphisms in gonadal hyperstimulation associated with severe juvenile primary hypothyroidism.

E. Pinto, B. V. Van Voorhis, Xiuyan Feng, 2007, The Journal of clinical endocrinology and metabolism.

Outcomes of Patients with Central Precocious Puberty Due to Loss-of-Function Mutations in the MKRN3 Gene after Treatment with Gonadotropin-Releasing Hormone Analog

A. Latronico, B. Mendonca, D. Macedo, 2019, Neuroendocrinology.

Absence of Functional LIN28B Mutations in a Large Cohort of Patients with Idiopathic Central Precocious Puberty

J. Hirschhorn, B. Henderson, R. Gregory, 2012, Hormone Research in Paediatrics.

GnRH analog is ineffective in increasing adult height in girls with puberty onset after 7 years of age: a systematic review and meta-analysis.

V. S. Nunes-Nogueira, S. R. Antonini, F. Bolfi, 2018, European journal of endocrinology.

A rational, non-radioactive strategy for the molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

M. de Castro, A. Moreira, C. Martinelli, 2014, Gene.

Adult Height in 299 Patients with Turner Syndrome with or without Growth Hormone Therapy: Results and Literature Review

G. Guerra‐Júnior, B. Mendonca, R. Scalco, 2021, Hormone Research in Paediatrics.

Genetic predictors of long-term response to growth hormone (GH) therapy in children with GH deficiency and Turner syndrome: the influence of a SOCS2 polymorphism.

G. Guerra‐Júnior, B. Mendonca, I. Arnhold, 2014, The Journal of clinical endocrinology and metabolism.

Growth hormone pharmacogenetics: the interactive effect of a microsatellite in the IGF1 promoter region with the GHR-exon 3 and −202 A/C IGFBP3 variants on treatment outcomes of children with severe GH deficiency

G. Guerra‐Júnior, B. Mendonca, I. Arnhold, 2011, The Pharmacogenomics Journal.

Pde8b haploinsufficiency in mice is associated with modest adrenal defects, impaired steroidogenesis, and male infertility, unaltered by concurrent PKA or Wnt activation

F. Faucz, C. Stratakis, M. Abu-Asab, 2020, Molecular and Cellular Endocrinology.

Genotype-phenotype correlations in central precocious puberty caused by MKRN3 mutations.

J. Argente, U. Kaiser, A. Latronico, 2020, The Journal of clinical endocrinology and metabolism.

Vitamin D receptor hypermethylation as a biomarker for pediatric adrenocortical tumors.

F. Ramalho, R. Z. Vêncio, C. Scrideli, 2022, European journal of endocrinology.

Glucocorticoid receptor gene polymorphisms in ACTH‐secreting pituitary tumours

A. Cukiert, H. Machado, A. Moreira, 2002, Clinical endocrinology.

Sonic Hedgehog pathway is upregulated in adamantinomatous craniopharyngiomas.

F. Saggioro, L. Neder, H. Machado, 2015, European journal of endocrinology.

Teleconsultation for pediatric patients with type 1 diabetes mellitus during the COVID-19 pandemic: experience of a university hospital in Brazil

A. Santana, S. R. Antonini, S. Sader, 2021, Jornal de Pediatria.