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LIM/42 - Laboratório de Hormônios e Genética Molecular

O Laboratório de Hormônios e Genética Molecular é ligado ao Departamento de Clínica Médica da Faculdade de Medicina da Universidade de São Paulo (FMUSP).

Linhas de pesquisa: distúrbios da determinação e diferenciação sexual; genética molecular; endocrinologia do desenvolvimento; distúrbios puberais; endocrinologia do desenvolvimento; genética molecular; tumorigênese adrenocortical; distúrbios do crescimento; endocrinologia do desenvolvimento; biologia molecular e transcrição gênica; hiperplasia adrenal congênita; transcrição gênica; genética molecular; receptor de andrógenos; citocromos hepáticos P450; disfunções e tumorigênese adrenocortical; genética molecular e tumorigênese hipofisária na doença de Cushing.

Site oficial: http://limhc.fm.usp.br/portal/lim42-laboratorio-de-hormonios-e-genetica-molecular/
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Recent Submissions

  1. A Small Supernumerary Xp Marker Chromosome Including Genes NR0B1 and MAGEB Causing Partial Gonadal Dysgenesis and Gonadoblastoma

    SEXUAL DEVELOPMENT, v.16, n.1, p.55-63, 2022

    Copy number variations of several genes involved in the process of gonadal determination have been identified as a cause of 46,XY differences of sex development. We report a non-syndromic 14-year-old female patient who was referred with primary amenorrhea, absence of breast development, and atypi...

  2. WT1 Pathogenic Variants are Associated with a Broad Spectrum of Differences in Sex Development Phenotypes and Heterogeneous Progression of Renal Disease

    SEXUAL DEVELOPMENT, v.16, n.1, p.46-54, 2022

    Wilms' tumor suppressor gene 1 (WT1) plays an essential role in urogenital and kidney development. Heterozygous germline pathogenic allelic variants of WT1 have been classically associated with Denys-Drash syndrome (DDS) and Frasier syndrome (FS). Usually, exonic pathogenic missense variants in t...

  3. Variants in 46,XY DSD-Related Genes in Syndromic and Non-Syndromic Small for Gestational Age Children with Hypospadias

    SEXUAL DEVELOPMENT, v.16, n.1, p.27-33, 2022

    Hypospadias is a common congenital disorder of male genital formation. Children born small for gestational age (SGA) present a high frequency of hypospadias of undetermined etiology. No previous study investigated the molecular etiology of hypospadias in boys born SGA using massively parallel seq...

  4. Frequency of radiotherapy-induced malignancies in Li-Fraumeni syndrome patients with early breast cancer and influence of the radiotherapy technique

    ANNALS OF ONCOLOGY, v.34, suppl.2, p.S314-S315, 2023

  5. RESPONSE TO RHGH THERAPY IN SHORT CHILDREN BORN AT VERY LOW BIRTH WEIGHT

    HORMONE RESEARCH IN PAEDIATRICS, v.96, suppl.1, p.30-31, 2023

  6. IDENTIFICATION AND IN SILICO CHARACTERIZATION OF THE P.L713P VARIANT ACTIVATION FUNCTION 2 (AF-2) REGION OF THE ANDROGEN RECEPTOR GENE IN A PARTIAL ANDROGEN INSENSITIVITY SYNDROME PATIENT

    HORMONE RESEARCH IN PAEDIATRICS, v.96, suppl.1, p.13-14, 2023

  7. Epigenetic dedifferentiation as a therapeutic strategy in adrenal cancer

    CANCER RESEARCH, v.83, n.7, suppl.S, 2023

  8. Acute Adrenal Insufficiency Related Adverse Events In Children With Congenital Adrenal Hyperplasia (CAH): Changes During The Period 2019-2022 In I-CAH

    HORMONE RESEARCH IN PAEDIATRICS, v.96, suppl.4, p.136-137, 2023

  9. Management of congenital adrenal hyperplasia in the first 90 days of life: a multi-centre I-CAH analysis of contemporary practice

    HORMONE RESEARCH IN PAEDIATRICS, v.96, suppl.4, p.29-30, 2023

  10. A systematic review of core outcomes reported in clinical trials of growth hormone therapy in children with growth hormone deficiency

    HORMONE RESEARCH IN PAEDIATRICS, v.96, suppl.4, p.323-323, 2023