Antonio M Lerario

Antonio M Lerario

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Antonio M Lerario

Antonio M Lerario

Publications by authors named "Antonio M Lerario"

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Growth and Clinical Characteristics of Children with Floating-Harbor Syndrome: Analysis of Current Original Data and a Review of the Literature.

Horm Res Paediatr 2019 12;92(2):115-123. Epub 2019 Nov 12.

Unidade de Endocrinologia Genetica, Laboratorio de Endocrinologia Celular e Molecular LIM25, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo (FMUSP), Sao Paulo, Brazil,

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http://dx.doi.org/10.1159/000503782DOI Listing
November 2019

Evaluation of SHOX defects in the era of next-generation sequencing.

Clin Genet 2019 Sep 4;96(3):261-265. Epub 2019 Jul 4.

Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular/LIM42, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.1111/cge.13587DOI Listing
September 2019

New Insights Into Pheochromocytoma Surveillance of Young Patients With Missense Mutations.

J Endocr Soc 2019 Sep 2;3(9):1682-1692. Epub 2019 Jul 2.

Unidade de Suprarrenal, Laboratório de Hormônios e Genética Molecular LIM/42, Serviço de Endocrinologia e Metabologia, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil.

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https://academic.oup.com/jes/article/3/9/1682/5526750
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http://dx.doi.org/10.1210/js.2019-00225DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6735756PMC
September 2019

Exome Sequencing Reveals the POLR3H Gene as a Novel Cause of Primary Ovarian Insufficiency.

J Clin Endocrinol Metab 2019 Jul;104(7):2827-2841

Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular/LIM42, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil.

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http://dx.doi.org/10.1210/jc.2018-02485DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6543511PMC
July 2019

Multigene Sequencing Analysis of Children Born Small for Gestational Age With Isolated Short Stature.

J Clin Endocrinol Metab 2019 Jun;104(6):2023-2030

Unidade de Endocrinologia Genética, Laboratório de Endocrinologia Celular e Molecular LIM25, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de São Paulo, São Paulo CEP, Brazil.

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http://dx.doi.org/10.1210/jc.2018-01971DOI Listing
June 2019

Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHR.

Endocr Connect 2019 May;8(5):590-595

Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil.

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http://dx.doi.org/10.1530/EC-19-0085DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6510710PMC
May 2019

Genetics of aldosterone-producing adenomas with pathogenic KCNJ5 variants.

Endocr Relat Cancer 2019 04 1;26(4):463-470. Epub 2019 Feb 1.

Division of Metabolism, Endocrinology, and Diabetes, University of Michigan, Ann Arbor, Michigan, USA.

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http://dx.doi.org/10.1530/ERC-18-0364DOI Listing
April 2019

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

Eur J Med Genet 2019 Mar 10;62(3):186-189. Epub 2018 Jul 10.

Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular/LIM42, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, SP, Brazil; Laboratório de Sequenciamento em Larga Escala (SELA), Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.07.008DOI Listing
March 2019

CD99 Expression in Glioblastoma Molecular Subtypes and Role in Migration and Invasion.

Int J Mol Sci 2019 Mar 6;20(5). Epub 2019 Mar 6.

Laboratory of Molecular and Cellular Biology (LIM 15), Department of Neurology, Faculdade de Medicina FMUSP, Universidade de Sao Paulo, Sao Paulo 01246-903, Brazil.

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http://dx.doi.org/10.3390/ijms20051137DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6429353PMC
March 2019

A 46,XX testicular disorder of sex development caused by a Wilms' tumour Factor-1 (WT1) pathogenic variant.

Clin Genet 2019 01 28;95(1):172-176. Epub 2018 Oct 28.

Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular/LIM42, Hospital das Clínicas, Disciplina de Endocrinologia e Metabologia, Faculdade de Medicina da Universidade de São Paulo, Brazil.

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http://dx.doi.org/10.1111/cge.13459DOI Listing
January 2019

Novel SUZ12 mutations in Weaver-like syndrome.

Clin Genet 2018 11 6;94(5):461-466. Epub 2018 Aug 6.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

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http://doi.wiley.com/10.1111/cge.13415
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http://dx.doi.org/10.1111/cge.13415DOI Listing
November 2018

Drug repurposing using high-throughput screening identifies a promising drug combination to treat adrenocortical carcinoma.

Oncotarget 2018 Sep 7;9(70):33245-33246. Epub 2018 Sep 7.

Endocrine Oncology, Rogel Cancer Center, University of Michigan, Ann Arbor, MI, USA.

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http://dx.doi.org/10.18632/oncotarget.26091DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6161802PMC
September 2018

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

Sex Dev 2017 8;11(3):137-142. Epub 2017 Jun 8.

Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular/LIM42, Hospital das Clínicas, Disciplina de Endocrinologia, São Paulo, Brazil.

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http://dx.doi.org/10.1159/000477193DOI Listing
April 2018

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

Eur J Med Genet 2018 Mar 10;61(3):130-133. Epub 2017 Nov 10.

Unidade de Endocrinologia Genética (LIM25) e Laboratório de Endocrinologia Celular e Molecular, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, SP, Brazil; Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular (LIM42), Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, SP, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.11.003DOI Listing
March 2018

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

Clin Endocrinol (Oxf) 2018 03 10;88(3):425-431. Epub 2018 Jan 10.

Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Hospital das Clínicas, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo, Sao Paulo, Brasil.

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http://dx.doi.org/10.1111/cen.13535DOI Listing
March 2018

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

Endocrinology 2018 02;159(2):579-596

Department of Internal Medicine, Division of Metabolism, Endocrinology and Diabetes, University of Michigan, Ann Arbor, Michigan.

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http://dx.doi.org/10.1210/en.2017-03061DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5774245PMC
February 2018

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

Genet Med 2018 01 28;20(1):91-97. Epub 2017 Jun 28.

Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain.

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http://dx.doi.org/10.1038/gim.2017.66DOI Listing
January 2018

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

Endocrine 2017 Dec 24;58(3):442-447. Epub 2017 Oct 24.

Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular/LIM42, Hospital das Clínicas, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.1007/s12020-017-1459-2DOI Listing
December 2017

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

Nat Neurosci 2017 Aug 3;20(8):1162-1171. Epub 2017 Jul 3.

Department of Neuroscience, Section Medical Physiology, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.

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http://dx.doi.org/10.1038/nn.4597DOI Listing
August 2017

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

Clinics (Sao Paulo) 2017 Jun;72(6):391-394

Departamento de Anatomia, Instituto de Ciencias Biomedicas, Universidade de Sao Paulo, Sao Paulo, SP, BR.

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http://dx.doi.org/10.6061/clinics/2017(06)10DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5463254PMC
June 2017

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

Horm Res Paediatr 2016 2;86(5):342-348. Epub 2016 Jun 2.

Division of Endocrinology, Cincinnati Center for Growth Disorders, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.

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http://dx.doi.org/10.1159/000446476DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5135661PMC
April 2017

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

J Clin Endocrinol Metab 2016 12 13;101(12):4585-4593. Epub 2016 Sep 13.

Department of Molecular and Integrative Physiology (J.R., S.K., W.E.R.), University of Michigan, Ann Arbor, Michigan 48109; Department of Internal Medicine (A.M.L., R.J.A.), University of Michigan, Ann Arbor, Michigan 48109; Division of Pediatric Endocrinology (J.M.S.), Specially for Children, Austin, Texas 78723; Department of Pediatrics (J.Z.K.-V.), University of Michigan, Ann Arbor, Michigan 48109; Department of Pathology (H.S., Y.N.), Tohoku University School of Medicine, Sendai, 980-8575 Japan; Division of Pathology, Faculty of Medicine (Y.N.), Tohoku Medical and Pharmaceutical University, Sendai, Miyagi 981-8558, Japan; and Department of Pediatrics (P.C.W.), University of Texas Southwestern Medical Center, Dallas, Texas 75235.

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http://dx.doi.org/10.1210/jc.2016-2864DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5155691PMC
December 2016

Mouse models of adrenocortical tumors.

Mol Cell Endocrinol 2016 Feb 8;421:82-97. Epub 2015 Dec 8.

Department of Internal Medicine, Division of Metabolism, Endocrinology, and Diabetes, USA; Endocrine Oncology Program, Comprehensive Cancer Center, University of Michigan, Ann Arbor, MI, 48109, USA. Electronic address:

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http://dx.doi.org/10.1016/j.mce.2015.11.031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4720156PMC
February 2016

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

Oncotarget 2015 Sep;6(26):22724-33

Unidade de Suprarrenal, Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Divisão de Endocrinologia e Metabologia, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil.

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http://dx.doi.org/10.18632/oncotarget.4261DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4673194PMC
September 2015

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

Med Sci Monit Basic Res 2015 Aug 30;21:179-82. Epub 2015 Aug 30.

Laboratory of Cellular and Molecular Endocrinology, Hospital of the School of Medicine of São Paulo University (HCFMUSP), São Paulo, SP, Brazil.

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http://dx.doi.org/10.12659/MSMBR.895096DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4564072PMC
August 2015

Development of adrenal cortex zonation.

Endocrinol Metab Clin North Am 2015 Jun;44(2):243-74

Endocrine Oncology Program, Center for Organogenesis, University of Michigan, 109 Zina Pitcher Place, 1528 BSRB, Ann Arbor, MI 48109-2200, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ecl.2015.02.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4486052PMC
June 2015

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

Clin Endocrinol (Oxf) 2015 Apr 3;82(4):481-8. Epub 2014 Nov 3.

Unidade de Suprarrenal & Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil.

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http://dx.doi.org/10.1111/cen.12607DOI Listing
April 2015

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

BMC Endocr Disord 2014 May 12;14:42. Epub 2014 May 12.

Divisão de Endocrinologia e Metabologia, Laboratório de Hormônios e Genética Molecular/LIM42, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, Av, Dr, Enéas de Carvalho Aguiar, 155, 2 andar, Bloco 6, São Paulo, SP 05403-900, Brasil.

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http://dx.doi.org/10.1186/1472-6823-14-42DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4024625PMC
May 2014

Genetics and epigenetics of adrenocortical tumors.

Mol Cell Endocrinol 2014 Apr 9;386(1-2):67-84. Epub 2013 Nov 9.

Endocrine Oncology Program, Center for Organogenesis, University of Michigan Health System, 109 Zina Pitcher Place, 1528 BSRB, Ann Arbor, MI 48109-2200, USA. Electronic address:

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http://dx.doi.org/10.1016/j.mce.2013.10.028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3943605PMC
April 2014

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.

Eur J Endocrinol 2012 Jan 2;166(1):61-7. Epub 2011 Nov 2.

Unidade de Suprarrenal, Laboratório de Hormônios e Genética Molecular/LIM42 da Disciplina de Endocrinologie Metabologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, Avenida Dr Eneas de Carvalho Aguiar 155, 20 andar, Bloco 6, CEP: 05403900 São Paulo, Brazil.

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http://dx.doi.org/10.1530/EJE-11-0806DOI Listing
January 2012

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

J Clin Endocrinol Metab 2010 Mar 15;95(3):1458-62. Epub 2010 Jan 15.

Unidade de Endocrinologia do Desenvolvimento e Laboratório de Hormônios e Genética Molecular (Laboratório de Investigação Médica 42), Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, Av. Dr. Enéas de Carvalho Aguiar, 155, 20 andar Bloco 6, 05403-900 São Paulo, SP, Brasil.

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http://dx.doi.org/10.1210/jc.2009-2040DOI Listing
March 2010