List of works - Antonio M Lerario

(18)F-FDG-PET/CT imaging of ACTH-independent macronodular adrenocortical hyperplasia (AIMAH) demonstrating increased (18)F-FDG uptake.

scientific article published in November 2011

A Brazilian family with inclusion body myopathy associated with Paget's disease of bone and frontotemporal dementia linked to the VCP pGly97Glu mutation.

scientific article published on 10 November 2017

A Novel Homozygous Missense FSHR Variant Associated with Hypergonadotropic Hypogonadism in Two Siblings from a Brazilian Family.

scientific article published on 8 June 2017

A new POT1 germline mutation-expanding the spectrum of POT1-associated cancers.

scientific article

A novel homozygous 1-bp deletion in the NOBOX gene in two Brazilian sisters with primary ovarian failure.

scientific article published on 24 October 2017

ARMC5Mutations Are a Frequent Cause of Primary Macronodular Adrenal Hyperplasia

article

Adrenocortical carcinoma and succinate dehydrogenase gene mutations: an observational case series

scientific article published on 17 August 2017

Advanced prostate cancer as a cause of oncogenic osteomalacia: an underdiagnosed condition

scientific article published on 04 May 2012

Age-dependent Increases in Adrenal Cytochrome b5 and Serum 5-Androstenediol-3-sulfate

scientific article published on 13 September 2016

Avanços recentes no conhecimento dos mecanismos moleculares envolvidos na tumorigênese adrenocortical

scientific article published on 01 October 2005

BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells

Combined expression of BUB1B, DLGAP5, and PINK1 as predictors of poor outcome in adrenocortical tumors: validation in a Brazilian cohort of adult and pediatric patients

article

Complete resolution of hypercortisolism with sorafenib in a patient with advanced medullary thyroid carcinoma and ectopic ACTH (adrenocorticotropic hormone) syndrome.

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

Comprehensive Pan-Genomic Characterization of Adrenocortical Carcinoma

scientific article

Comprehensive Pan-Genomic Characterization of Adrenocortical Carcinoma

article

DAX1 Overexpression in Pediatric Adrenocortical Tumors: A Synergic Role with SF1 in Tumorigenesis.

scientific article published on 18 May 2015

Development of adrenal cortex zonation

scientific article published on June 2015

Evaluation of Downstream Regulatory Element Antagonistic Modulator Gene in Human Multinodular Goiter.

scientific article

Expression of LIN28 and its regulatory microRNAs in adult adrenocortical cancer.

scientific article published on 3 November 2014

Female Patient with Alport Syndrome and Concomitant Membranous Nephropathy: Susceptibility or Association of Two Diseases?

scientific article published in March 2017

GLUT1 expression in pediatric adrenocortical tumors: a promising candidate to predict clinical behavior.

scientific article published on 10 July 2017

Genetic Evidence of the Association of DEAH-Box Helicase 37 Defects With 46,XY Gonadal Dysgenesis Spectrum

scientific article published on 01 December 2019

Genetics and epigenetics of adrenocortical tumors.

scientific article

Genetics of primary macronodular adrenal hyperplasia

scientific article

Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report and review of previous patients.

scientific article published on 10 November 2017

IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy

scientific article

Identification of the first homozygous 1-bp deletion in GDF9 gene leading to primary ovarian insufficiency by using targeted massively parallel sequencing

scientific article

Increased expression of ACTH (MC2R) and androgen (AR) receptors in giant bilateral myelolipomas from patients with congenital adrenal hyperplasia

scientific article

Long-Term Outcomes and Molecular Analysis of a Large Cohort of Patients with 46,XY Disorder of Sex Development due to Partial Gonadal Dysgenesis.

scientific article published on 18 April 2018

Long-term Results after CT-Guided Percutaneous Ethanol Ablation for the Treatment of Hyperfunctioning Adrenal Disorders.

scientific article published on October 2016

Long-term response to growth hormone therapy in a patient with short stature caused by a novel heterozygous mutation in NPR2.

scientific article published on 10 December 2016

Low DICER1 expression is associated with poor clinical outcome in adrenocortical carcinoma.

scientific article

Metabolic reprogramming: a new relevant pathway in adult adrenocortical tumors.

scientific article published on 16 November 2015

Molecular Mechanisms of Stem/Progenitor Cell Maintenance in the Adrenal Cortex.

scientific article published on 23 March 2017

Mouse models of adrenocortical tumors.

scientific article

Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature.

scientific article published on 29 June 2017

New evidences on the regulation of SF-1 expression by POD1/TCF21 in adrenocortical tumor cells

scientific article

Novel SUZ12 mutations in Weaver-like syndrome

scientific article published on 06 August 2018

PDX1 -MODY and dorsal pancreatic agenesis: New phenotype of a rare disease.

scientific article published on 24 April 2017

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

scientific article

Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes

scientific article published on 19 December 2017

Progression to adrenocortical tumorigenesis in mice and humans through insulin-like growth factor 2 and β-catenin

scientific article

Radiographic Characteristics of Adrenal Masses Preceding the Diagnosis of Adrenocortical Cancer

scientific article published on 29 May 2015

Recurrent Hyperparathyroidism Due to a Novel CDC73 Splice Mutation.

scientific article published on 10 April 2017

Sonic Hedgehog and WNT Signaling Promote Adrenal Gland Regeneration in Male Mice.

scientific article published in December 2017

Statins reduce intratumor cholesterol affecting adrenocortical cancer growth

scientific article published on 16 June 2020

Steroidogenic factor 1 overexpression and gene amplification are more frequent in adrenocortical tumors from children than from adults.

scientific article published on 15 January 2010

Targeted Assessment of G0S2 Methylation Identifies a Rapidly Recurrent, Routinely Fatal Molecular Subtype of Adrenocortical Carcinoma

scientific article published on 15 February 2019

Targeted massively parallel sequencing for congenital generalized lipodystrophy

scientific article published on 28 August 2020

The combination of insulin-like growth factor receptor 1 (IGF1R) antibody cixutumumab and mitotane as a first-line therapy for patients with recurrent/metastatic adrenocortical carcinoma: a multi-institutional NCI-sponsored trial

scientific article

The role of fibroblast growth factor receptor 4 overexpression and gene amplification as prognostic markers in pediatric and adult adrenocortical tumors.

scientific article

Therapeutic Targets for Adrenocortical Carcinoma in the Genomics Era

scientific article published on 26 September 2018

Transcriptome Analysis Showed a Differential Signature between Invasive and Non-invasive Corticotrophinomas

scientific article published on 22 March 2017

Transcriptomic analysis of purified human cortical microglia reveals age-associated changes

scientific article

Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia

scientific article published on 02 June 2016

Two rare loss-of-function variants in the STAG3 gene leading to primary ovarian insufficiency

scientific article published on 10 July 2018

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

scientific article published on December 2016

List of works by Antonio M Lerario

(18)F-FDG-PET/CT imaging of ACTH-independent macronodular adrenocortical hyperplasia (AIMAH) demonstrating increased (18)F-FDG uptake.

A Brazilian family with inclusion body myopathy associated with Paget's disease of bone and frontotemporal dementia linked to the VCP pGly97Glu mutation.

A Novel Homozygous Missense FSHR Variant Associated with Hypergonadotropic Hypogonadism in Two Siblings from a Brazilian Family.

A new POT1 germline mutation-expanding the spectrum of POT1-associated cancers.

A novel homozygous 1-bp deletion in the NOBOX gene in two Brazilian sisters with primary ovarian failure.

ARMC5Mutations Are a Frequent Cause of Primary Macronodular Adrenal Hyperplasia

Adrenocortical carcinoma and succinate dehydrogenase gene mutations: an observational case series

Advanced prostate cancer as a cause of oncogenic osteomalacia: an underdiagnosed condition

Age-dependent Increases in Adrenal Cytochrome b5 and Serum 5-Androstenediol-3-sulfate

Avanços recentes no conhecimento dos mecanismos moleculares envolvidos na tumorigênese adrenocortical

BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells

Combined expression of BUB1B, DLGAP5, and PINK1 as predictors of poor outcome in adrenocortical tumors: validation in a Brazilian cohort of adult and pediatric patients

Complete resolution of hypercortisolism with sorafenib in a patient with advanced medullary thyroid carcinoma and ectopic ACTH (adrenocorticotropic hormone) syndrome.

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

Comprehensive Pan-Genomic Characterization of Adrenocortical Carcinoma

Comprehensive Pan-Genomic Characterization of Adrenocortical Carcinoma

DAX1 Overexpression in Pediatric Adrenocortical Tumors: A Synergic Role with SF1 in Tumorigenesis.

Development of adrenal cortex zonation

Evaluation of Downstream Regulatory Element Antagonistic Modulator Gene in Human Multinodular Goiter.

Expression of LIN28 and its regulatory microRNAs in adult adrenocortical cancer.

Female Patient with Alport Syndrome and Concomitant Membranous Nephropathy: Susceptibility or Association of Two Diseases?

GLUT1 expression in pediatric adrenocortical tumors: a promising candidate to predict clinical behavior.

Genetic Evidence of the Association of DEAH-Box Helicase 37 Defects With 46,XY Gonadal Dysgenesis Spectrum

Genetics and epigenetics of adrenocortical tumors.

Genetics of primary macronodular adrenal hyperplasia

Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report and review of previous patients.

IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy

Identification of the first homozygous 1-bp deletion in GDF9 gene leading to primary ovarian insufficiency by using targeted massively parallel sequencing

Increased expression of ACTH (MC2R) and androgen (AR) receptors in giant bilateral myelolipomas from patients with congenital adrenal hyperplasia

Long-Term Outcomes and Molecular Analysis of a Large Cohort of Patients with 46,XY Disorder of Sex Development due to Partial Gonadal Dysgenesis.

Long-term Results after CT-Guided Percutaneous Ethanol Ablation for the Treatment of Hyperfunctioning Adrenal Disorders.

Long-term response to growth hormone therapy in a patient with short stature caused by a novel heterozygous mutation in NPR2.

Low DICER1 expression is associated with poor clinical outcome in adrenocortical carcinoma.

Metabolic reprogramming: a new relevant pathway in adult adrenocortical tumors.

Molecular Mechanisms of Stem/Progenitor Cell Maintenance in the Adrenal Cortex.

Mouse models of adrenocortical tumors.

Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature.

New evidences on the regulation of SF-1 expression by POD1/TCF21 in adrenocortical tumor cells

Novel SUZ12 mutations in Weaver-like syndrome

PDX1 -MODY and dorsal pancreatic agenesis: New phenotype of a rare disease.

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

Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes

Progression to adrenocortical tumorigenesis in mice and humans through insulin-like growth factor 2 and β-catenin

Radiographic Characteristics of Adrenal Masses Preceding the Diagnosis of Adrenocortical Cancer

Recurrent Hyperparathyroidism Due to a Novel CDC73 Splice Mutation.

Sonic Hedgehog and WNT Signaling Promote Adrenal Gland Regeneration in Male Mice.

Statins reduce intratumor cholesterol affecting adrenocortical cancer growth

Steroidogenic factor 1 overexpression and gene amplification are more frequent in adrenocortical tumors from children than from adults.

Targeted Assessment of G0S2 Methylation Identifies a Rapidly Recurrent, Routinely Fatal Molecular Subtype of Adrenocortical Carcinoma

Targeted massively parallel sequencing for congenital generalized lipodystrophy

The combination of insulin-like growth factor receptor 1 (IGF1R) antibody cixutumumab and mitotane as a first-line therapy for patients with recurrent/metastatic adrenocortical carcinoma: a multi-institutional NCI-sponsored trial

The role of fibroblast growth factor receptor 4 overexpression and gene amplification as prognostic markers in pediatric and adult adrenocortical tumors.

Therapeutic Targets for Adrenocortical Carcinoma in the Genomics Era

Transcriptome Analysis Showed a Differential Signature between Invasive and Non-invasive Corticotrophinomas

Transcriptomic analysis of purified human cortical microglia reveals age-associated changes

Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia

Two rare loss-of-function variants in the STAG3 gene leading to primary ovarian insufficiency

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