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Catarina Inês Nunes Pires Gonçalves

Investigador/a Auxiliar

Sector — Cargos/Funções

CICS - Centro de Investigação em Ciências da Saúde Investigador/a CICS - Health Sciences Research Center

Departamento de Ciências Médicas Investigador/a do Departamento de Ciências Médicas

Publicações Científicas Mais Recentes


(Informação importada da plataforma CiênciaVitae)

    Artigo em revista/Journal article

    1. Gaspar, L. M.; Gonçalves, C. I.; Saraiva, C.; Cortez, L.; Amaral, C.; Nobre, E.; Lemos, M. C. "Low frequency of AIP mutations in patients with young-onset sporadic pituitary macroadenomas". Journal of Endocrinological Investigation (2023) url
    2. Gonçalves, Catarina I.; Carriço, Josianne N.; Omar, Omneya M.; Abdalla, Ebtesam; Lemos, Manuel C. "Hypoparathyroidism, deafness and renal dysplasia syndrome caused by a GATA3 splice site mutation leading to the activation of a cryptic splice site". Frontiers in Endocrinology (2023) url
    3. Fadiga, Lúcia; Lavrador, Mariana; Vicente, Nuno; Barros, Luía; Gonçalves, Catarina I.; Al-Naama, Asma; Saraiva, Luis R.; Lemos, Manuel C. "A Novel FGFR1 Missense Mutation in a Portuguese Family with Congenital Hypogonadotropic Hypogonadism". International Journal of Molecular Sciences (2022) url
    4. Gaspar, Leonor M.; Gonçalves, Catarina I.; Fonseca, Fernando; Carvalho, Davide; Cortez, Luía; Palha, Ana; Barros, Inês F.; et al. "A Common Variant in the CDK8 Gene Is Associated with Sporadic Pituitary Adenomas in the Portuguese Population: A Case-Control Study". International Journal of Molecular Sciences (2022) url
    5. Gonçalves, Catarina I.; Nunes-Carriço, Josianne; Bastos, Margarida; Lemos, Manuel C. "Disorder of Sex Development Due to 17-Beta-Hydroxysteroid Dehydrogenase Type 3 Deficiency: A Case Report and Review of 70 Different HSD17B3 Mutations Reported in 239 Patients". International Journal of Molecular Sciences (2022) url

    Nota Biográfica


    (Informação importada da plataforma CiênciaVitae)
    Catarina Inês Nunes Pires Gonçalves. Completed her PhD in Biomedicine on 2016/02/01 by Universidade da Beira Interior, Faculdade de Ciências da Saúde, MSc in Ecology on 2008/02/21 by Universidade de Coimbra, Faculdade de Ciências e Tecnologia and Degree in Biology on 2004/06/24 by Universidade de Aveiro. Has a Research contract in the project GenoPit - Genetic risk factors for pituitary adenomas: a national, multicenter, genetic and clinical analysis. at Universidade da Beira InteriorPublished 19 articles in journals. Organized 2 event(s). Participated in 11 event(s). Co-supervised 3 PhD thesis(es) 1 MSc dissertation and supervised 2 Scientific Initiation Project(s) and 2 Molecular Biology internship as part of the Clinical Pathology internship . Has received 4 awards and/or honours. Participates and/or participated as PhD Student Fellow in 1 project, Pos-doctoral Fellow in 1 project, Research Fellow in 3 projects, Co-PI and Researcher in 1 project, Invited Researcher in 1 project and Contract Researcher in 1 project under the Stimulus Competition for Institutional Scientific Employment (CEEC-Institutional). Since completed PhD with a thesis on Molecular Genetics of Idiopathic Hypogonadotropic Hypogonadism, has been pursuing the same line of research and also has carried-out genetic and phenotypic studies of other endocrine disorders such as diabetes insipidus, familial hypocalciuric hypercalcemia, MODY diabetes, thyroid hormone resistance syndrome, and androgen insensitivity syndrome, that resulted in the identification of several mutations and that provided important diagnostic information for clinicians from several Portuguese endocrine departmentsHas been responsible for the sequencing laboratory since 2016 at CICS-UBI, where, in addition to proceeding with the management of stocks and equipment maintenance, has been working on several research works and integrated and trained several students in this area. She has been invited to give lectures to medical students at universities such as the University of Porto and the University of Beira Interior, as well as at lunch seminars and meetings of the groups and societies to which she belongs. Works in the area(s) of Medical and Health Sciences with emphasis on Basic Medicine with emphasis on Human Genetics and Medical and Health Sciences with emphasis on Clinical Medicine with emphasis on Endocrinology and Metabolism. In her curriculum Ciência Vitae the most frequent terms in the context of scientific, technological and artistic-cultural output are: hypogonadotropic hypogonadism; Kallmann syndrome; genetics; mutation; polymorphisms; heredity; endocrinology; hormones; reproduction; diabetes; gonadotropin-releasing hormone; CHD7; CHARGE syndrome; ANOS1; Gonadotropin-releasing Hormone; GNRHR; FGFR1; MODY; thyroid cancer; vitamin D.

    Distinções e Prémios


    (Informação importada da plataforma CiênciaVitae)
    Prémio
    2023Casuistry award "AIP gene mutations in young Portuguese patients with sporadic pituitary macroadenomas" - Sociedade Portuguesa de Endocrinologia Diabetes e Metabolismo, Lisboa, Lisboa, Portugal
    2023Oral Communication Award - Universidade da Beira Interior Centro de Investigação em Ciências da Saúde, Covilhã, Castelo Branco, Portugal
    2021Grant Portuguese Society of Endocrinology Diabetes and Metabolism DR.ª Maria Da Conceição Barbas 2020- Next generation sequencing for the diagnosis of children with MODY type diabetes (10000 euros) - Sociedade Portuguesa de Endocrinologia Diabetes e Metabolismo, Lisboa, Lisboa, Portugal
    2018Grant Portuguese Society of Endocrinology Diabetes and Metabolism / Novartis Oncology in Pituitary Pathology - Exome studies in a family with congenital hypogonadotropic hypogonadism (5000 euros) - Sociedade Portuguesa de Endocrinologia Diabetes e Metabolismo, Lisboa, Lisboa, Portugal
    2015Casuistry award "Hypogonadotropic hypogonadism: identification of 6 new mutations of the FGFR1 gene" - Sociedade Portuguesa de Endocrinologia Diabetes e Metabolismo, Lisboa, Lisboa, Portugal

    Projectos e Financiamentos


    (Informação importada da plataforma CiênciaVitae)

    Bolsa

    • Identification of genetic causes of congenital hypogonadotropic hypogonadism using next-generation sequencing. 2020.04924.BD 2020 - 2024/11/1 (Em curso)
    • Whole exome study of a family with congenital hypogonadotropic hypogonadism. Bolsa SPEDM / Novartis Oncology em Patologia Hipofisária 2017 2018 - 2020/2/5 (Concluído)
    • ICON-Interdisciplinary Challenges On Neurodegeneration - Identification of genetic biomarkers for the neurodegeneration of hypothalamic GnRH secreting neurons. CENTRO-01-0145-FEDER- 000013 2017 - 2018/11/6 (Concluído)
    • "Molecular Genetics of Congenital Hypogonadotropic Hypogonadism". - 2016 - 2017/5/21 (Concluído)
    • "Molecular genetics and functional genomics of pituitary hormone deficiencies." PTDC/SAU-GMG/098419/2008 2008 - 2015/12/31 (Concluído)
    • "Molecular Genetics of Idiopathic Hypogonadotropic Hypogonadism". SFRH/BD/76420/2011 2011 - 2015/12/31 (Concluído)
    • Evaluation of the ecological status of the coastal and transitional water bodies and the ecological potential of the highly modified water bodies. NA 2010 - 2011// (Concluído)

    Projeto

    • Genome-based personalized medicine. CENTRO-08-5864-FSE-000039 2021 - 2023/6/30 (Em curso)
    • GenoPit - Genetic risk factors for pituitary adenomas: a national, multicenter, genetic and clinical analysis. POCI-01- 0145- FEDER- 029489 2018 - 2021// (Concluído)
    • Applying bioinformatics to Next-generation sequencing data in a case study of patients with CHH. CEECINST/00016/2021/CP2828/CT0002  2022 - // (Em curso)

    Contactos

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