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List of works by Fabio R Faucz

ARMC 5 Variants and Risk of Hypertension in Blacks: MH- GRID Study

scientific article published on 03 July 2019

ARMC5 variants in PRKAR1A-mutated patients modify cortisol levels and Cushing's syndrome

scientific article published on 01 July 2020

Aberrant DNA hypermethylation of SDHC: a novel mechanism of tumor development in Carney triad

scientific article

Analysis of the association between lactotransferrin (LTF) gene polymorphism and dental caries.

scientific article published on March 2010

Association between Maternal Non-Coding Interferon-λ Polymorphisms and Congenital Zika Syndrome in a Cohort from Brazilian Northeast

scientific article published in 2021

Association of a PARK2 Germline Variant and Epithelial Ovarian Cancer in a Southern Brazilian Population.

scientific article published on 10 June 2016

Carney triad can be (rarely) associated with germline succinate dehydrogenase defects

scientific article published on 15 July 2015

Carney triad, SDH-deficient tumors, and Sdhb+/- mice share abnormal mitochondria

scientific article published on 25 March 2015

Celecoxib reduces glucocorticoids in vitro and in a mouse model with adrenocortical hyperplasia

scientific article

Characterization of GPR101 transcript structure and expression patterns

scientific article published on 9 June 2016

Chromosome 19p13.3 deletion in a child with Peutz-Jeghers syndrome, congenital heart defect, high myopia, learning difficulties and dysmorphic features: Clinical and molecular characterization of a new contiguous gene syndrome.

scientific article published on October 2011

Cyclin-dependent kinase inhibitor 1B (CDKN1B) gene variants in AIP mutation-negative familial isolated pituitary adenoma kindreds

scientific article published on 3 May 2012

Docetaxel Treatment in Castration-Resistant Prostate Cancer: the Triad Gene-Drug-Disease ⬇️

scientific article published on 01 February 2011

Functional phosphodiesterase 11A mutations may modify the risk of familial and bilateral testicular germ cell tumors

scientific article published on 23 June 2009

Functional screen analysis reveals miR-26b and miR-128 as central regulators of pituitary somatomammotrophic tumor growth through activation of the PTEN–AKT pathway ⬇️

scientific article published on May 21, 2012

GPR101, an orphan GPCR with roles in growth and pituitary tumorigenesis

scientific article published on 01 April 2020

Germline PRKACA amplification causes variable phenotypes that may depend on the extent of the genomic defect: molecular mechanisms and clinical presentations

scientific article published on June 2015

Inhibin A as a tumor marker for primary bilateral macronodular adrenal hyperplasia

scientific article published on 29 April 2020

Integrated analysis of genome-wide methylation and gene expression shows epigenetic regulation of CYP11B2 in aldosteronomas

scientific article published on 11 December 2013

Integrity of the pheochromocytoma susceptibility TMEM127 gene in patients with pediatric malignancies.

scientific article

Is IGSF1 involved in human pituitary tumor formation?

scientific article

Is there a common cause for pediatric Cushing's disease?

scientific article published on 30 October 2020

Liver findings in patients with Carney complex and PRKAR1A pathogenic variant

scientific article published on 01 April 2020

Loss-of-function mutations in the CABLES1 gene are a novel cause of Cushing's disease

scientific article

Mass spectrometry-based steroid profiling in primary bilateral macronodular adrenocortical hyperplasia

scientific article published on 01 April 2020

PRKACB variants in skeletal disease or adrenocortical hyperplasia: effects on protein kinase A

scientific article published on 01 November 2020

Phosphodiesterase sequence variants may predispose to prostate cancer

scientific article published on 15 May 2015

Primary Aldosteronism and ARMC5 Variants

scientific article published on 30 March 2015

Prkar1a gene knockout in the pancreas leads to neuroendocrine tumorigenesis

scientific article published in November 2016

Pseudohypoaldosteronism type 1 due to novel variants of SCNN1B gene

scientific article

Rare inactivating PDE11A variants associated with testicular germ cell tumors

scientific article published on December 2015

Screening for GPR101 defects in pediatric pituitary corticotropinomas

scientific article

Somatic mosaicism underlies X-linked acrogigantism syndrome in sporadic male subjects

scientific article

The ARMC5 gene shows extensive genetic variance in primary macronodular adrenocortical hyperplasia

scientific article

Volumetric Modeling of Adrenal Gland Size in Primary Bilateral Macronodular Adrenocortical Hyperplasia

scientific article published on 29 October 2020

X-linked acrogigantism syndrome: clinical profile and therapeutic responses

scientific article

c-KIT oncogene expression in PRKAR1A-mutant adrenal cortex

scientific article published on 01 July 2020

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