List of works - Bruno Ferraz-de-Souza

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

scientific article

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

scientific article

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.

scientific article

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

scientific article published on 31 May 2016

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

scientific article

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

scientific article published on 11 May 2021

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

scientific article published on August 2016

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

scientific article published on 2 January 2007

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 9 July 2016

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

scientific article published on 24 February 2015

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on October 18, 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

scientific article published on 02 March 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

scientific article

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.

scientific article

List of works by Bruno Ferraz-de-Souza

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

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

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.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

The evolution of primary hyperparathyroidism

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

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

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.