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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, Leonor M.; Gonçalves, C.I.; Nobre, Ema L.; Fonseca, Fernando; Amaral, Claúdia; Duarte, João S.; Raimundo, Luía; et al. "Germline genetic variants in young-onset sporadic pituitary macroadenomas: A multigene panel analysis". Journal of Clinical & Translational Endocrinology (2025) url
    2. Carriço, Josianne Nunes; Gonçalves, Catarina Inês; Al-Naama, Asma; Syed, Najeeb; Aragüés, José Maria; Bastos, Margarida; Fonseca, Fernando; et al. "Genetic architecture of congenital hypogonadotropic hypogonadism: insights from analysis of a Portuguese cohort". Human Reproduction Open (2024) url
    3. Carriço, Josianne Nunes; Gonçalves, Catarina Inês; Aragüés, José Maria; Lemos, Manuel Carlos. "Kallmann Syndrome: Functional Analysis of a CHD7 Missense Variant Shows Aberrant RNA Splicing". International Journal of Molecular Sciences (2024) url
    4. 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
    5. 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

    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 AveiroShe published twenty two articles in high-ranked journals in the field, namely Fertility & Sterility, Human Reproduction, Endocrine Connections, Scientific Reports and Human Reproduction Open and participated in the organization of the VIII and XV annual CICS Symposiums. She participated in sixteen national and international events. She co-supervised three PhD thesis, one MSc dissertation, supervised two Scientific Initiation Projects and two Molecular Biology internships as part of the Clinical Pathology internship. She has received six awards. She participated as PhD Student fellow in two projects entitled "Molecular Genetics of Idiopathic Hypogonadotropic Hypogonadism" and "Molecular genetics and functional genomics of pituitary hormone deficiencies". As a Research fellow in two projects entitled "Evaluation of the ecological status of the coastal and transitional water bodies and the ecological potential of the highly modified water bodies" and "Molecular Genetics of Congenital Hypogonadotropic Hypogonadism". As a Post-doctoral fellow in the project "ICON-Interdisciplinary Challenges On Neurodegeneration - Identification of genetic biomarkers for the neurodegeneration of hypothalamic GnRH secreting neurons". As a Researcher in two projects entitled "Whole exome study of a family with congenital hypogonadotropic hypogonadism" and "Next-generation sequencing for the diagnosis of children with Maturity-Onset Diabetes of the Young (MODY)". As Co-Principal Investigator in the project "GenoPit - Genetic risk factors for pituitary adenomas: a national, multicenter, genetic and clinical analysis". As an Invited Researcher in the "Project for the Capacitation of the Central Region for Genomics-based Personalized/Precision Medicine" and currently as a Researcher in the project "Applying bioinformatics to Next-generation sequencing data in a case study of patients with CHH". Since completed her PhD with a thesis on "Molecular Genetics of Idiopathic Hypogonadotropic Hypogonadism", she has been pursuing the same line of research collaborating with a network of several Portuguese Endocrine Clinical Departments, caring-out genetic and phenotypic studies of other endocrine disorders such as, diabetes insipidus, familial hypocalciuric hypercalcemia, MODY diabetes, thyroid hormone resistance syndrome, androgen insensitivity syndrome and Hypoparathyroidism Deafness and Renal dysplasia syndrome. This national collaboration arbored in the identification of several mutations which provided important diagnostic information for cliniciansIn 2019, the scientific activity was interrupted, for six month, due to maternity leave. She has been responsible for the sequencing laboratory since 2016 at CICS-UBI, where, in addition to manage stocks and equipment''s maintenance, has been working on several research works and integrated and trained several students. She has been invited to give classes and 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. She works in the area of Medical and Health Sciences, with emphasis on Basic Medicine, Human Genetics, Clinical Medicine and Endocrinology and Metabolism.

    Distinções e Prémios


    (Informação importada da plataforma CiênciaVitae)
    Prémio
    2025Best research project - Multigene Panel Analysis for the Identification of Germeline Variants in Portuguese Patients with Young-Onset Sporadic Pituitary Macroadenomas - Sociedade Portuguesa de Endocrinologia Diabetes e Metabolismo, Lisboa, Lisboa, Portugal
    2023Best research project - AIP gene mutations in young Portuguese patients with sporadic pituitary macroadenomas - Sociedade Portuguesa de Endocrinologia Diabetes e Metabolismo, Lisboa, Lisboa, Portugal
    2023Oral Communication Award - XVIII International CICS-UBI Symposium - 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 Maturity-Onset Diabetes of the Young (MODY) (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
    2015Best research project - 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

    Enhancing the Diagnosis of Maturity Onset Diabetes of the Young through Whole-Exome Sequencing: A Precision Medicine Approach. 7500 euros LH.INV.2025005 (Em curso)
    Next-generation sequencing for the diagnosis of children with Maturity-Onset Diabetes of the Young (MODY). 10 000 euros  Bolsa de Endocrinologia, Dra. Conceição Barbas, 2020 (Concluído)
    Whole exome study of a family with congenital hypogonadotropic hypogonadism. 5000 euros Bolsa SPEDM / Novartis Oncology em Patologia Hipofisária 2017 (Concluído)
    ICON-Interdisciplinary Challenges On Neurodegeneration - Identification of genetic biomarkers for the neurodegeneration of hypothalamic GnRH secreting neurons. CENTRO-01-0145-FEDER- 000013 (Concluído)
    Molecular Genetics of Congenital Hypogonadotropic Hypogonadism. - (Concluído)

    Contactos

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