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Other IDs

Scopus Author ID: 7005222034
ResearcherID: C-7697-2012
SciProfiles: 2555085

Keywords

exome sequencing, short stature, genetic, SHOX, Noonan syndrome, growth disorders

Biography

Associate Professor of Medicine at The Endocrinology Department of
The University of Sao Paulo, School of Medicine
Genetic-Endocrinology Unit

Activities

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Employment (1)

Universidade de São Paulo Faculdade de Medicina: São Paulo, SP, BR

2010-03-01 to present | Associate Professor of Medicine (Internal Medicine / Endocrinology division)
Employment
Source: Self-asserted source
Alexander Augusto de Lima Jorge

Education and qualifications (3)

Universidade de São Paulo Faculdade de Medicina: São Paulo, SP, BR

1997-08-01 to 2002-03-05 | Pediatric Endocrinology / Research fellowship (Internal Medicine / Endicrinology)
Education
Source: Self-asserted source
Alexander Augusto de Lima Jorge

Universidade de São Paulo Faculdade de Medicina Hospital das Clínicas: São Paulo, SP, BR

1994-02-01 to 1997-01-31 | Endocrinology (Internal Medicine)
Education
Source: Self-asserted source
Alexander Augusto de Lima Jorge

Faculdade de Ciências Médicas da Santa Casa de São Paulo: São Paulo, SP, BR

1988-02-01 to 1993-12-05 | Medical degree
Education
Source: Self-asserted source
Alexander Augusto de Lima Jorge

Professional activities (1)

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior: Brasilia, Distrito Federal, BR

2024-10-03 | ANÁLISE DOS GENES GHRH E GLI2 EM PACIENTES COM DEFICIÊNCIA DE HORMÔNIO DO CRESCIMENTO CONGÊNITA (Prêmio Capes de Tese - 2013 Edition - Honorable Mention - MEDICINA I - Co-supervisor)
Distinction
Source: check_circle
CAPES

Funding (16)

Avaliar a resposta ao tratamento com hormônio de crescimento de crianças com baixa estatura idiopática à luz do resultado da investigação genética

2022-05-01 to 2023-04-30 | Grant
São Paulo Research Foundation (São Paulo, BR)
URL: https://app.dimensions.ai/details/grant/grant.12901739
GRANT_NUMBER: 22/04276-0
Source: Self-asserted source
Alexander Augusto de Lima Jorge via DimensionsWizard

Prospective genetic analysis of children with idiopathic short stature

2021-10 to 2023-10 | Award
BioMarin Pharmaceutical (CA, CA, US)
Source: Self-asserted source
Alexander Augusto de Lima Jorge

Identification of new genetic modifiers of the phenotype associated with SHOX haploinsufficiency

2020-11-01 to 2022-10-31 | Grant
São Paulo Research Foundation (São Paulo, BR)
URL: https://app.dimensions.ai/details/grant/grant.9472834
GRANT_NUMBER: 19/16092-8
Source: Self-asserted source
Alexander Augusto de Lima Jorge via DimensionsWizard

Growth hormone and estrogen pharmacogenetics in patients with Turner Syndrome

2016-10-01 to 2019-01-31 | Grant
São Paulo Research Foundation (São Paulo, BR)
URL: https://app.dimensions.ai/details/grant/grant.9105547
GRANT_NUMBER: 16/03318-0
Source: Self-asserted source
Alexander Augusto de Lima Jorge via DimensionsWizard

Análise de novos genes candidatos e do sistema igf/igf1r por tecnologia de sequenciamento de nova geração em crianças nascidas pequenas para idade gestacional

2014-11-27 to 2017-11-30 | Grant
National Council for Scientific and Technological Development (Brasília, BR)
URL: https://app.dimensions.ai/details/grant/grant.9229559
GRANT_NUMBER:

CNPq_7a740c947c
Source: Self-asserted source
Alexander Augusto de Lima Jorge via DimensionsWizard

New approaches and methodologies in molecular-genetic studies of growth and pubertal development disorders

2014-04-01 to 2020-01-31 | Grant
São Paulo Research Foundation (São Paulo, BR)
URL: https://app.dimensions.ai/details/grant/grant.4481348
GRANT_NUMBER: 13/03236-5
Source: Self-asserted source
Alexander Augusto de Lima Jorge via DimensionsWizard

NEW APPROACHES AND METHODOLOGIES IN MOLECULAR-GENETIC STUDIES OF GROWTH AND PUBERTAL DEVELOPMENT DISORDERS

2014-04 to 2018-03 | Grant
São Paulo Research Foundation (São Paulo-SP, BR)
GRANT_NUMBER:

2013/03236-5
Source: Self-asserted source
Alexander Augusto de Lima Jorge

Study of the phenotype associated to heterozigous STAT5B mutation p.L142fsX161

2012-02-01 to 2015-09-30 | Grant
São Paulo Research Foundation (São Paulo, BR)
URL: https://app.dimensions.ai/details/grant/grant.9093909
GRANT_NUMBER: 11/15078-0
Source: Self-asserted source
Alexander Augusto de Lima Jorge via DimensionsWizard

DETERMINAÇÃO DA BASE MOLECULAR DE PACIENTES PORTADORES DE DIABETES MONOGÊNICO

2012-01-01 to present | Grant
Coordenação de Aperfeicoamento de Pessoal de Nível Superior (Brasília, BR)
URL: https://app.dimensions.ai/details/grant/grant.13435411
GRANT_NUMBER: 320734
Source: Self-asserted source
Alexander Augusto de Lima Jorge via DimensionsWizard

Search for mutations in C-type natriuretic peptide receptor gene (NPR2) in individuals with idiopathic short stature

2011-12-01 to 2015-11-30 | Grant
São Paulo Research Foundation (São Paulo, BR)
URL: https://app.dimensions.ai/details/grant/grant.9108372
GRANT_NUMBER: 11/11801-9
Source: Self-asserted source
Alexander Augusto de Lima Jorge via DimensionsWizard

Phenotype related with p.L142fsX161 STAT5B mutation in the heterozygous state

2011-04-01 to 2013-03-31 | Grant
São Paulo Research Foundation (São Paulo, BR)
URL: https://app.dimensions.ai/details/grant/grant.4489459
GRANT_NUMBER: 10/19809-6
Source: Self-asserted source
Alexander Augusto de Lima Jorge via DimensionsWizard

Study of growth hormone secretagogue receptor (GHSR) gene in children with isolated growth hormone deficiency and children with idiopatic short stature

2009-04-01 to 2011-03-31 | Grant
São Paulo Research Foundation (São Paulo, BR)
URL: https://app.dimensions.ai/details/grant/grant.4492865
GRANT_NUMBER: 09/00313-3
Source: Self-asserted source
Alexander Augusto de Lima Jorge via DimensionsWizard

Caracterização da insensibilidade ao fator de crescimento insulina-símile tipo 1 (IGF-1) em pacientes com defeitos no receptor ou na via de sinalização do receptor tipo 1 de IGFs (IGF-1R)

2009-03-01 to 2012-07-31 | Grant
São Paulo Research Foundation (São Paulo, BR)
URL: https://app.dimensions.ai/details/grant/grant.9111342
GRANT_NUMBER: 08/57915-2
Source: Self-asserted source
Alexander Augusto de Lima Jorge via DimensionsWizard

Farmacogenômica do tratamento com hormônio de crescimento (GH) recombinante humano em crianças com deficiência GH

2006-09-01 to 2010-08-31 | Grant
São Paulo Research Foundation (São Paulo, BR)
URL: https://app.dimensions.ai/details/grant/grant.9390047
GRANT_NUMBER: 06/55763-5
Source: Self-asserted source
Alexander Augusto de Lima Jorge via DimensionsWizard

Determinação da sensibilidade ao IGF-1 de fibroblastos de crianças nascidas pequenas para a idade gestacional

2005-05-01 to 2009-04-30 | Grant
São Paulo Research Foundation (São Paulo, BR)
URL: https://app.dimensions.ai/details/grant/grant.9119713
GRANT_NUMBER: 05/50144-2
Source: Self-asserted source
Alexander Augusto de Lima Jorge via DimensionsWizard

Estudo in vitro da sensibilidade ao GH de crianças com baixa estatura e investigação dos efeitos dos asteroides sexuais sobre a ação do GH em um modelo celular

2003-09-01 to 2004-01-31 | Grant
São Paulo Research Foundation (São Paulo, BR)
URL: https://app.dimensions.ai/details/grant/grant.9123439
GRANT_NUMBER: 02/09688-0
Source: Self-asserted source
Alexander Augusto de Lima Jorge via DimensionsWizard

Peer review (35 reviews for 10 publications/grants)

Review activity for Archives of Endocrinology and Metabolism. (6)
Review activity for Clinical endocrinology. (5)
Review activity for Clinical genetics (1)
Review activity for Endocrine connections. (2)
Review activity for European journal of clinical investigation. (1)
Review activity for European journal of endocrinology. (12)
Review activity for Human mutation. (2)
Review activity for International journal of pediatric endocrinology. (1)
Review activity for Molecular genetics and genomics. (1)
Review activity for The journal of clinical endocrinology and metabolism. (4)
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