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Lista de obras de Bruno Ferraz-de-Souza

25-Hydroxyvitamin D and TSH as Risk Factors or Prognostic Markers in Thyroid Carcinoma

artículo científico publicado en 2016

CBP/p300-interacting transactivator, with Glu/Asp-rich C-terminal domain, 2, and pre-B-cell leukemia transcription factor 1 in human adrenal development and disease

artículo científico publicado en 2008

ChIP-on-chip analysis reveals angiopoietin 2 (Ang2, ANGPT2) as a novel target of steroidogenic factor-1 (SF-1, NR5A1) in the human adrenal gland.

artículo científico publicado en 2010

Comprehensive Genetic Analysis of 128 Candidate Genes in a Cohort With Idiopathic, Severe, or Familial Osteoporosis

scientific article published on 07 October 2020

Effects of Type 1 Insulin-Like Growth Factor Receptor Silencing in a Human Adrenocortical Cell Line

artículo científico publicado en 2016

Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency

artículo científico publicado en 2008

Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UK

artículo científico publicado en 2021

Genetics of osteoporosis: searching for candidate genes for bone fragility.

artículo científico publicado en 2016

Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function.

artículo científico publicado en 2007

Homozygous inactivating mutation in NANOS3 in two sisters with primary ovarian insufficiency.

artículo científico publicado en 2014

Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1

artículo científico publicado en 2010

Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome

artículo científico publicado en 2012

Nonspecific binding of a frequently used vitamin D receptor (VDR) antibody: important implications for vitamin D research in human health.

artículo científico publicado en 2016

Normal bone mass and normocalcemia in adulthood despite homozygous vitamin D receptor mutations

artículo científico publicado en 2015

POD-1/TCF21 Reduces SHP Expression, Affecting LRH-1 Regulation and Cell Cycle Balance in Adrenocortical and Hepatocarcinoma Tumor Cells.

artículo científico publicado en 2015

Potential Effects of Alendronate on Fibroblast Growth Factor 23 Levels and Effective Control of Hypercalciuria in an Adult with Jansen's Metaphyseal Chondrodysplasia

scientific article published on 25 January 2012

Steroidogenic factor-1 (SF-1, NR5A1) and human disease

artículo científico publicado en 2010

Sterol O-acyltransferase 1 (SOAT1, ACAT) is a novel target of steroidogenic factor-1 (SF-1, NR5A1, Ad4BP) in the human adrenal

artículo científico publicado en 2011

Symptomatic intracranial hypertension and prolonged hypocalcemia following treatment of Paget’s disease of the skull with zoledronic acid ⬇️

artículo científico publicado el 18 de octubre de 2012

The evolution of primary hyperparathyroidism

scientific article published on 01 October 2015

The molecular landscape of osteogenesis imperfecta in a Brazilian tertiary service cohort

artículo científico publicado en 2020

The role of enteric hormone GLP-2 in the response of bone markers to a mixed meal in postmenopausal women with type 2 diabetes mellitus

artículo científico publicado en 2015

Transcriptomic Response to 1,25-Dihydroxyvitamin D in Human Fibroblasts with or without a Functional Vitamin D Receptor (VDR): Novel Target Genes and Insights into VDR Basal Transcriptional Activity

artículo científico publicado en 2019

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