CV Lattes
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ORCID
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Secretaria da Saúde (São Paulo - Estado). Hospital das Clínicas da Faculdade de Medicina da USP (HCFMUSP) (Institutional affiliation from the last research proposal) Birthplace: Brazil
Graduated in Medicine from the Federal University of Triângulo Mineiro (1973), master's degree in Endocrinology and Metabology from the Faculty of Medicine of the University of São Paulo (1981) and doctorate in Endocrinology and Metabology from the Faculty of Medicine of the University of São Paulo (1984). She is Full Professor at the Department of Clinical Medicine, Endocrinology Area, Faculty of Medicine, University of São Paulo. She works as a clinical researcher in the area of #8203;#8203;development endocrinology, covering the clinical and molecular study of differences in sexual development, growth and puberty and in the area of #8203;#8203;hypo and adrenal hyperfunction with a focus on steroidogenesis and tumorigenesis aand in hormonal measurements. He is responsible for structuring and developing the Laboratory of Hormones and Molecular Genetics, LIM / 42 and the multi-user laboratories AE-06 - LCMS (chromatography / mass spectrometry) and Sequencing GEF-08 - SELA] Large-scale Sequencing Laboratory. She is currently a Senior Researcher at CNPq. He supervised 10 post-doctoral students, 31 doctoral theses, 09 master's degrees and 04 scientific initiation students and co-supervised 10 doctoral students and three Master's co-supervision. Currently, she has 3 Ph.D. orientations. She published 508 papers in national and international journals that received a total number of 15442 citations, with H-index = 63, according to a survey conducted in the Web of Science database, research date: March 08, 2025; in the Google Scholar database it has 22.242 citations and an H index of 75; in the Scopus database 19727 citations and H index of 72. Expertscape's PubMed-based algorithms in 2022 place you in the top 0.1 of scholars writing about Disorders of Sex Development over the past 10 years, a level we label as "World Expert."ORCID: http: //orcid.org/0000-0003-1762-1084 - http://www.researcherid.com/rid/J-6917-2015."For her outstanding body of work, she has received numerous international awards and distinctions, including:The Scopus Award (2009), granted by Elsevier and the Brazilian Ministry of Education,The Brazilian Society of Endocrinology Award (2011) for her remarkable research,The Medal of Confidence in Clinical Endocrinology (2012) from the UK Society for Endocrinology,The Excellence in Endocrinology Award (2013) by The Endocrine Society (USA), andThe International Investigator Award (2021) from the European Society for Pediatric Endocrinology, in recognition of her outstanding contributions to Medicine and Education.In the AD Ranking of scientists in the field of endocrinology and metabolism, Prof. Berenice ranks first in Brazil and second in Latin America."** (Source: Lattes Curriculum)
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The adrenal steroids cortisol and aldosterone are critical components of the endocrine system. Their lack causes a life-threatening adrenal crisis, while overproduction leads to cardiovascular complications (e.g. hypertension and heart failure), metabolic disturbances, and psychological symptoms. These complications are potentially preventable if adrenal diseases are diagnosed and treated…
Ilumina NextSeq 2000 Sequencing: System is an integrated system for automated generation of DNA donor dusters by bridge amplification, sequencing, primary analysis, and secondary analysis. System induces embedded touchscreen monitor and on instrument computer, control software, hardware accelerated Dragen Bio-ff secondary analysis installation and training, and 12 months warranty (includi…
Differences of Sex Development (DSD) represent a set of congenital diseases in which the development of chromosomal, gonadal, or anatomical sex is atypical. Current knowledge allows molecular diagnosis in only about 50% of patients. New mechanisms of gene regulation are emerging in novel causes of DSD and explaining different phenotypes caused by the same gene mutation. The identification…
Recent studies and accomplishments on monogenic diseases have served not only to alleviate the dilemma of patients with these disorders, but also have yielded valuable information on biological processes relevant to other more common conditions. However, few centers are prepared to diagnose, follow up, and investigate monogenic developmental diseases in Brazil, the largest Latin American …
The introduction of the radioimmunoassay technique for determining the levels of hormones, including steroids, brought about a true revolution in the diagnosis and investigation of endocrine diseases. Methods were developed for the determination of steroid levels through extraction with organic solvents, sometimes followed by chromatography and, finally, radioimmunoassay. However, for suc…
(Only some records are available in English at this moment)
Differences in Sex Development (DSD) are a heterogeneous group of conditions affecting gonadal development and spermatogenesis. Recent studies have identified mutations in DHX37 e AMH suggesting that these variants may impair essential mechanisms of sex determination and gonadal homeostasis. DHX37, an RNA helicase, plays a crucial role in testicular development, while AMH and its receptor…
Differences in Sex Development (DSD) are genetic conditions that impact gonadal differentiation and spermatogenesis. Mutations in the DHX37 and AMH genes have been associated with DSD, suggesting that these variants may compromise mechanisms of sex determination and gonadal homeostasis. This Scientific Initiation project, linked to the postdoctoral project "Functional Rescue of Pathogenic…
Differences in Sexual Development (DSD) represent a spectrum of genetic conditions characterized by altered gonadal development and sexual phenotype, often linked to unknown molecular etiologies. This project aims to establish and characterize an in vitro model to study normal human gonadal development and DSD conditions using induced pluripotent stem cells (iPSCs). The methodology involv…
(Only some records are available in English at this moment)
The activities proposed for the scientific journalist are of two different natures - the first one is the rewriting of medical and academic texts in an accessible language and with the use of images and infographics; the second applies knowledge about journalism to design and carry out science communication actions among different audiences.Finally, the journalist must record these activi…
Recent studies and accomplishments on monogenic diseases have served not only to alleviate the dilemma of patients with these disorders, but also have yielded valuable information on biological processes relevant to other more common conditions. However, few centers are prepared to diagnose, follow up, and investigate monogenic developmental diseases in Brazil, the largest Latin American …
Primary ovarian failure (POF) is a major cause of female infertility. POF is characterized by amenorrhoea, hypo-oestrogenism and elevated gonadotrophin levels. In POF disorder, several genetic alterations have been described, however in most of the patients the etiology of this disorder remains unidentified. In this proposal, the broad aim is to perform whole exome sequencing in DNA samp…
(Only some records are available in English at this moment)
| 3 / 3 | Ongoing grants |
| 23 / 9 | Completed research grants |
| 6 / 6 | Ongoing scholarships in Brazil |
| 18 / 4 | Completed scholarships in Brazil |
| 1 / 0 | Completed scholarships abroad |
| 51 / 22 | All research grants and scholarships |
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