CV Lattes
ResearcherID
ORCID
Universidade de São Paulo (USP). Faculdade de Medicina (FM) (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 14016 citations, with H-index = 58, according to a survey conducted in the Web of Science database, research date: August 17, 2023; 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 (Source: Lattes Curriculum)
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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 of Sex Development (DSD) are a group of congenital conditions defined by a discordance of chromosomal, gonadal and/or anatomical sex. 46,XY DSD are a subgroup characterized by a wide phenotype, varying from a micropenis to atypical or female external genitalia, with or without Mullerian derivatives, due to an inadequate testosterone and dihydrotestosterone synthesis or lack of…
Differences in sex development (DSD) represent a set of congenital disorders in which the development of chromosomal, gonadal, or anatomical sex is atypical. Current knowledge allows establishing a molecular diagnosis in only about 50% of patients. New mechanisms of gene regulation are emerging as new causes of DDS and explaining different phenotypes caused by the same gene mutation. The …
Hypospadias is a congenital anomaly of the external genitalia, characterized by altered development of the urethra, foreskin and ventral surface of the penis. Genetic factors play an important role in the incidence of this defect in 46,XY individuals, both in isolated and in syndromic patients. Children born small for gestational age (SGA) have a high frequency of hypospadias of undetermi…
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)
| 2 / 2 | Ongoing research grants |
| 23 / 9 | Completed research grants |
| 3 / 3 | Ongoing scholarships in Brazil |
| 18 / 4 | Completed scholarships in Brazil |
| 1 / 0 | Completed scholarships abroad |
| 47 / 18 | All research grants and scholarships |
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