B. Ferraz-de-Souza

发表

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

N. Sebire, J. Seeler, H. Rouba, 2010, American journal of human genetics.

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

C. Lotfi, B. Ferraz-de-Souza, A. Lerário, 2015, BioMed research international.

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

B. Ferraz-de-Souza, A. Lerário, B. Mendonca, 2020, Journal of the Endocrine Society.

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

A. Grüters, H. Biebermann, B. Köhler, 2008, Human mutation.

Diagnosis and treatment of hypoparathyroidism: a position statement from the Brazilian Society of Endocrinology and Metabolism

F. D. de Paula, V. Borba, B. Ferraz-de-Souza, 2018, Archives of endocrinology and metabolism.

Genetic disorders involving adrenal development.

J. Achermann, B. Ferraz-de-Souza, Lin Lin, 2007, Endocrine development.

Homozygous Inactivating Mutation in NANOS3 in Two Sisters with Primary Ovarian Insufficiency

G. Guerra‐Júnior, F. C. Soardi, M. de Mello, 2014, BioMed research international.

Disorders of adrenal development.

J. Achermann, B. Ferraz-de-Souza, 2008, Endocrine development.

Wide spectrum of NR5A1‐related phenotypes in 46,XY and 46,XX individuals

J. Achermann, B. Ferraz-de-Souza, Lin Lin, 2016, Birth defects research. Part C, Embryo today : reviews.

Potential effects of alendronate on fibroblast growth factor 23 levels and effective control of hypercalciuria in an adult with Jansen's metaphyseal chondrodysplasia.

B. Ferraz-de-Souza, B. Mendonca, R. Martin, 2012, The Journal of clinical endocrinology and metabolism.

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

B. Ferraz-de-Souza, M. França, Pedro L F Costa, 2016, Endocrine.

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

B. Ferraz-de-Souza, A. Latronico, R. M. Martin, 2015, Osteoporosis International.

POD-1 binding to the E-box sequence inhibits SF-1 and StAR expression in human adrenocortical tumor cells

R. Kuick, G. Hammer, C. Lotfi, 2013, Molecular and Cellular Endocrinology.

Diagnosis and treatment of Paget's disease of bone: a mini-review.

B. Ferraz-de-Souza, P. H. Corrêa, 2013, Arquivos brasileiros de endocrinologia e metabologia.

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

B. Ferraz-de-Souza, R. Martin, P. H. Corrêa, 2013, Journal of Bone and Mineral Metabolism.

The elusive clinical significance of osteocalcin actions in energy metabolism in humans.

B. Ferraz-de-Souza, 2018, Archives of endocrinology and metabolism.

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

M. Dattani, N. Sebire, J. Jameson, 2007, The Journal of clinical endocrinology and metabolism.

The evolution of primary hyperparathyroidism.

B. Ferraz-de-Souza, 2015, Archives of endocrinology and metabolism.

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

John C. Achermann, Lin Lin, J. Achermann, 2011, Molecular and Cellular Endocrinology.

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

M. Dattani, P. Hindmarsh, N. S. Thomas, 2021, Journal of the Endocrine Society.

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.

D. Gerrelli, F. Beuschlein, A. Huebner, 2009, The Journal of clinical endocrinology and metabolism.

New paradigms : renin axis and risk Programming of hypertension : associations of plasma aldosterone in adult men and women with birthweight , cortisol , and blood pressure

J. Achermann, B. Ferraz-de-Souza, Lin Lin, 2009 .

CBP / p 300-Interacting Transactivator , with Glu / Asp-Rich C-Terminal Domain , 2 , and Pre-B-Cell Leukemia Transcription Factor 1 in Human Adrenal Development and Disease

D. Gerrelli, F. Beuschlein, A. Huebner, 2009 .

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

B. Ferraz-de-Souza, A. Latronico, R. Martin, 2019, Cells.

Molecular diagnosis in the clinical practice: an endocrinologist's perspective Diagnóstico molecular na prática clínica: visão do endocrinologista

B. Ferraz-de-Souza, 2015 .

Mutations in the PCNA-binding domain of CDKN1C cause IMAGE Syndrome

S. Nelson, J. Martinez-Agosto, E. Vilain, 2012, Nature Genetics.

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

Sonia Shah, M. Hubank, M. Dattani, 2011, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Genetics of osteoporosis: searching for candidate genes for bone fragility

B. Ferraz-de-Souza, Manuela G M Rocha-Braz, 2016, Archives of endocrinology and metabolism.

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

B. Ferraz-de-Souza, A. Latronico, L. Montenegro, 2016, Hormone and Metabolic Research.

Acute and long-term kidney function after parathyroidectomy for primary hyperparathyroidism.

M. Peacock, B. Ferraz-de-Souza, R. Moysés, 2020, PloS one.

Real-world impact of glucocorticoid replacement therapy on bone mineral density: retrospective experience of a large single-center CAH cohort spanning 24 years

B. Ferraz-de-Souza, B. Mendonca, R. M. Martin, 2020, Osteoporosis International.

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

C. Cernea, B. Ferraz-de-Souza, M. Kulcsar, 2016, PloS one.

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

B. Ferraz-de-Souza, M. da Silva, M. Nery, 2015, Diabetology & Metabolic Syndrome.

Sterol O-Acyltransferase 1 (SOAT1, ACAT) Is a Novel Target of Steroidogenic Factor-1 (SF-1, NR5A1, Ad4BP) in the Human Adrenal

Mike Hubank, Mehul T. Dattani, John C. Achermann, 2011, The Journal of clinical endocrinology and metabolism.

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

B. Ferraz-de-Souza, B. Mendonca, R. Martin, 2020, Osteoporosis International.

Role of DAX-1 (NR0B1) and steroidogenic factor-1 (NR5A1) in human adrenal function.

John C Achermann, Lin Lin, J. Achermann, 2011, Endocrine development.

CITED2 and PBX1 in human adrenal development and disease

D. Gerrelli, F. Beuschlein, A. Huebner, 2009 .