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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. She published nineteen articles in high-ranked journals in the field, namely Fertility & Sterility, Human Reproduction, Endocrine Connections and Scientific Reports and participated in the organization of the VIII and XV annual CICS Symposiums . She participated in fifteen 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 four awards. She participated as PhD Student fellow in the project entitled "Molecular genetics and functional genomics of pituitary hormone deficiencies". 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 Research fellow in three projects entitled "Evaluation of the ecological status of the coastal and transitional water bodies and the ecological potential of the highly modified water bodies", "Molecular Genetics of Congenital Hypogonadotropic Hypogonadism" and "Whole exome study of a family with congenital hypogonadotropic hypogonadism". As Co-PI and Researcher 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 Contract Researcher in one project under the Stimulus Competition for Institutional Scientific Employment (CEEC-Institutional) entitled "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 clinicians. In 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.
Identification

Personal identification

Full name
Catarina Inês Nunes Pires Gonçalves

Citation names

  • Gonçalves, C.I.

Author identifiers

Ciência ID
F011-B25C-CD56
ORCID iD
0000-0001-6659-1200
Scopus Author Id
57246736200

Websites

  • http://cics.ubi.pt/ (Professional)

Knowledge fields

  • Medical and Health Sciences - Basic Medicine - Human Genetics
  • Medical and Health Sciences - Clinical Medicine - Endocrinology and Metabolism

Languages

Language Speaking Reading Writing Listening Peer-review
English Proficiency (C2) Proficiency (C2) Proficiency (C2) Proficiency (C2)
French Upper intermediate (B2) Upper intermediate (B2) Upper intermediate (B2) Upper intermediate (B2)
Spanish; Castilian Proficiency (C2) Proficiency (C2) Advanced (C1) Proficiency (C2)
Portuguese (Mother tongue)
Education
Degree Classification
2016/02/01
Concluded
Biomedicine (PhD) (Doutoramento)
Universidade da Beira Interior Faculdade de Ciências da Saúde, Portugal
"Molecular Genetics of Idiopathic Hypogonadotropic Hypogonadism" (THESIS/DISSERTATION)
Excellent
2010/05/14
Concluded
Initial Pedagogical Training Course for Trainers (Pós-Graduação)
Ministério do Trabalho Solidariedade e Segurança Social, Portugal
Very Good - between 18 and 20 values
2008/02/21
Concluded
Ecology (MSc) (Mestrado)
Universidade de Coimbra Faculdade de Ciencias e Tecnologia, Portugal
"Changes in lipid reserves in the digestive gland of Nucella lapillus (Mollusca, Neogastropoda)" (THESIS/DISSERTATION)
Very Good - between 18 and 20 values
2004/06/24
Concluded
Biology (Graduation) (Licenciatura)
Major in Research
Universidade de Aveiro, Portugal
"Study of the growth and reproduction of Donax spp ("Cadelinha") of the Portuguese Coast" (THESIS/DISSERTATION)
15 points out of 20 points
Affiliation

Science

Category
Host institution
Employer
2023/02/01 - Current Contracted Researcher (Research) Universidade da Beira Interior, Portugal
Universidade da Beira Interior Centro de Investigação em Ciências da Saúde, Portugal

Others

Category
Host institution
Employer
2021/11/08 - 2023/01/31 Guest researcher in the project CENTRO-08-5864-FSE-000039 - Genome-based personalized medicine. Universidade da Beira Interior, Portugal
Universidade da Beira Interior Centro de Investigação em Ciências da Saúde, Portugal
2018/11/07 - 2021/11/06 Research contract in the project GenoPit - Genetic risk factors for pituitary adenomas: a national, multicenter, genetic and clinical analysis. Universidade da Beira Interior, Portugal
Universidade da Beira Interior Centro de Investigação em Ciências da Saúde, Portugal
2018/02/05 - 2020/02/05 Research fellow in the "Exome studies in a family with congenital hypogonadotropic hypogonadism". Novartis Oncology in Pituitary Pathology, Portugal
Universidade da Beira Interior Centro de Investigação em Ciências da Saúde, Portugal
2017/06/07 - 2018/11/06 Postdoctoral fellow - ICON (Interdisciplinary Challenges On Neurodegeneration) - Identification of genetic markers of hypothalamic neuroendocrine degeneration. Universidade da Beira Interior, Portugal
Universidade da Beira Interior Centro de Investigação em Ciências da Saúde, Portugal
2016/11/21 - 2017/05/21 Research fellow in the project "Molecular Genetics of Congenital Hypogonadotropic Hypogonadism". Universidade da Beira Interior, Portugal
Universidade da Beira Interior Centro de Investigação em Ciências da Saúde, Portugal
2016/01/01 - 2016/11/20 Researcher - Genetic and phenotypic studies of endocrine disorders: Hypogonadotropic hypogonadism, Diabetes Insipidus, Familial hypocalciuric hypercalcemia, diabetes (MODY), ... Universidade da Beira Interior, Portugal
Universidade da Beira Interior Centro de Investigação em Ciências da Saúde, Portugal
2012/01/01 - 2015/12/31 PhD grant from the Foundation for Science and Technology - FCT : "Molecular Genetics of Idiopathic Hypogonadotropic Hypogonadism". Fundação para a Ciência e a Tecnologia, Portugal
Universidade da Beira Interior Centro de Investigação em Ciências da Saúde, Portugal
2010/04/12 - 2011/09/30 Research fellow in the project EEMA - Evaluation of the ecological status of the coastal and transitional water bodies and the ecological potential of the highly modified water bodies. Universidade de Lisboa Centro de Oceanografia, Portugal
Universidade de Lisboa Centro de Oceanografia, Portugal
2009/01/01 - 2009/06/30 Operation Manager of the Wastewater Treatment Plant of Vila Pouca de Cernache - Control of the various stages of wastewater treatment in order to comply with the legislation in force. Degrémont, France
Degrémont, France
2008/07/01 - 2008/12/31 Laboratory Manager of the WWTP of Alcochete, Afonsoeiro and Seixalinho - Stock control of reagents and performance of daily analysis for verifying the proper degree of purification treatment process. Degrémont, France
Degrémont, France
2005/10/01 - 2007/06/30 Researcher – Development of the laboratory work of the master's degree about "Changes of lipid reserves in the digestive gland of Nucella lapillus (Mollusca, Neogastropoda)". Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2006/07/01 - 2006/07/31 Monitor of the "Introduction to Marine Biology” at the Junior University -characterization of the different phyla, dissection of organisms, laboratory rules, ... Universidade do Porto Centro Interdisciplinar de Investigação Marinha e Ambiental, Portugal
Universidade do Porto Centro Interdisciplinar de Investigação Marinha e Ambiental, Portugal
2004/11/01 - 2005/03/31 Research fellow: Study of histophysiological aspects of comercial bivalves. Physical-chemical and heavy metals analysis in the sediment. Instituto de Ciências Marinhas de Andalucia - ICMAN, Spain
Instituto de Ciências Marinhas de Andalucia - ICMAN, Spain
2003/11/01 - 2004/04/30 Internship of graduation, dissertation title: “Study of growth and reproduction of Donax spp. (“Cadelinha”) of the Portuguese Coast”. Universidade de Aveiro, Portugal
Universidade de Aveiro, Portugal
Projects

Grant

Designation Funders
2018/07/26 - 2022/07/25 GenoPit - Genetic risk factors for pituitary adenomas: a national, multicenter, genetic and clinical analysis.
POCI-01-0145-FEDER-029489
Co-Principal Investigator (Co-PI)
Universidade da Beira Interior Centro de Investigação em Ciências da Saúde, Portugal
Fundação para a Ciência e a Tecnologia
Concluded
2018/02/05 - 2020/02/05 Whole exome study of a family with congenital hypogonadotropic hypogonadism.
Bolsa SPEDM / Novartis Oncology em Patologia Hipofisária 2017
Researcher
Universidade da Beira Interior Centro de Investigação em Ciências da Saúde, Portugal
Sociedade Portuguesa de Endocrinologia Diabetes e Metabolismo
Concluded
2017/06/07 - 2018/11/06 ICON-Interdisciplinary Challenges On Neurodegeneration - Identification of genetic biomarkers for the neurodegeneration of hypothalamic GnRH secreting neurons.
CENTRO-01-0145-FEDER- 000013
Post-doc Fellow
Universidade da Beira Interior Centro de Investigação em Ciências da Saúde, Portugal
Programa Operacional Regional do Centro 2014-2020 (Centro2020)
Concluded
2016/11/21 - 2017/05/21 Molecular Genetics of Congenital Hypogonadotropic Hypogonadism.
-
Research Fellow
Universidade da Beira Interior Centro de Investigação em Ciências da Saúde, Portugal
Universidade da Beira Interior
Concluded
2012/01/01 - 2015/12/31 Molecular genetics and functional genomics of pituitary hormone deficiencies.
PTDC/SAU-GMG/098419/2008
Researcher
Universidade da Beira Interior Centro de Investigação em Ciências da Saúde, Portugal
Fundação para a Ciência e a Tecnologia
Concluded
2012/01/01 - 2015/12/31 Molecular Genetics of Idiopathic Hypogonadotropic Hypogonadism.
SFRH/BD/76420/2011
PhD Student Fellow
Universidade da Beira Interior Centro de Investigação em Ciências da Saúde, Portugal
Fundação para a Ciência e a Tecnologia
Concluded
2010 - 2011 Evaluation of the ecological status of the coastal and transitional water bodies and the ecological potential of the highly modified water bodies.
NA
Research Fellow
Universidade de Lisboa Faculdade de Ciências, Portugal
European Union through the Cohesion Fund as well as by the ‘Programa Operacional Temático Valorização do Território’ (POVT).
Concluded

Contract

Designation Funders
2023/02/01 - Current Applying bioinformatics to Next-generation sequencing data in a case study of patients with CHH.
CEECINST/00016/2021/CP2828/CT0002
Researcher
Universidade da Beira Interior Centro de Investigação em Ciências da Saúde, Portugal
Fundação para a Ciência e a Tecnologia
Ongoing
2021/11/08 - 2023/01/31 Project for the Capacitation of the Central Region for Genomics-based Personalized/Precision Medicine.
CENTRO-08-5864-FSE-000039 do CENTRO 2020
Researcher
Universidade da Beira Interior Centro de Investigação em Ciências da Saúde, Portugal
Comissão de Coordenação e Desenvolvimento Regional do Centro
Ongoing
2018/11/07 - 2021/11/06 GenoPit - Genetic risk factors for pituitary adenomas: a national, multicenter, genetic and clinical analysis.
POCI-01- 0145- FEDER- 029489
Researcher
Universidade da Beira Interior Centro de Investigação em Ciências da Saúde, Portugal
Fundação para a Ciência e a Tecnologia
Concluded
Outputs

Publications

Conference poster
  1. Nunes-Carriço, Josianne; Gonçalves, Catarina; Saraiva, Luís R.; Lemos, Manuel C. "P01.020.D - Genetics of congenital hypogonadotropic hypogonadism in the portuguese population.". Paper presented in European Human Genetics Conference 2023, Glasgow, Scotland, UK., 2023.
  2. Gaspar, Leonor M.; Gonçalves, Catarina; Saraiva, Catarina; Cortez Luía; Amaral, Cláudia; Nobre, Ema; Lemos, Manuel C. "EP13:016 - AIP mutations in Portuguese patients with young-onset isolated pituitary adenomas.". Paper presented in European Human Genetics Conference 2023, Glasgow, Scotland, UK., 2023.
  3. Cortez, L.; Lemos, M.C.; Goncalves, C.I.; Palha, A.; Agapito, A.. "Acromegaly: a patient with mutation of the AIP gene". Paper presented in Portuguese Congress of Endocrinology 2019 / 70th SPEDM Annual Meeting, Braga, Portugal, 2019.
  4. Goncalves, C.I.; Bastos, M.; Pignatelli, D.; Borges, T.; Aragües, J.M.; Fonseca, F.; Pereira, B.; Socorro, S.; Lemos, M.C.. "Novel FGFR1 mutations in idiopathic hypogonadotropic hypogonadism: involvement of na alternatively spliced isoform". Paper presented in COST Action BM1105 Scientific Meeting and Training School, Prato, Italy, 2015.
  5. Gamito, R.; Gonçalves, C.I.; Fonseca, V.F.; Costa, J.L.; Cabral, H.N.; Costa, M.J.. "Response of a multimetric fish-based index to natural variability in estuaries: the robustness of the Estuarine Fish Assessment Index (EFAI).". Paper presented in Estuarine and Lagoon Ecosystem Trajectories Symposium, Bordeaux (France), 2011.
  6. Gonçalves, C.I.; Gamito, R.; Fonseca, V.; et al. "Testing the robustness of the Estuarine Fish Assessment Index (EFAI) applying different water bodies.". Paper presented in Estuarine and Lagoon Ecosystem Trajectories Symposium, Bordeaux (France), 2011.
  7. Maia, F.; Pimenta, J.; Goncalves, C.I.. "Growth of Donax vittattus in the north-west coast of Portugal. Biological data for the management of a new fishery". Paper presented in World Congress of Malacology, Antwerp, Belgium, 2007.
  8. Galante-Oliveira, S.; Gonçalves, C.I.; Filipe, L.T.; Marques, S.M.; Silveira, P.; Gomes, V.. "Strategies for controlling transpiration in Portuguese species of Festuca L. (Poaceae)- first results". Paper presented in XXXVII Annual Meeting of the Portuguese Society of Electronic Microscopy and Cell Biology, Madeira, Portugal, 2002.
Journal article
  1. 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 14 (2023): http://dx.doi.org/10.3389/fendo.2023.1207425.
    10.3389/fendo.2023.1207425
  2. 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): http://dx.doi.org/10.1007/s40618-023-02083-7.
    10.1007/s40618-023-02083-7
  3. Gaspar, Leonor M.; Gonçalves, Catarina I.; Fonseca, Fernando; Carvalho, Davide; Cortez, Luísa; 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 23 19 (2022): 11749. http://dx.doi.org/10.3390/ijms231911749.
    Published • 10.3390/ijms231911749
  4. 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 23 17 (2022): 10026. http://dx.doi.org/10.3390/ijms231710026.
    10.3390/ijms231710026
  5. Fadiga, Lúcia; Lavrador, Mariana; Vicente, Nuno; Barros, Luísa; 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 23 8 (2022): 4423. http://dx.doi.org/10.3390/ijms23084423.
    Published • 10.3390/ijms23084423
  6. Alvelos, M.I. *; Goncalves, C.I. *; Coutinho, E.; Almeida, J.T.; Bastos, M.; Sampaio, M.L.; Melo, M.; et al. "Maturity-Onset Diabetes of the Young (MODY) in Portugal: Novel GCK, HNFA1 and HNFA4 Mutations". Journal of Clinical Medicine 9 1 (2020): 288-305. (* joint first authors) http://dx.doi.org/10.3390/jcm9010288.
    Published • 10.3390/jcm9010288
  7. Carvalho, I.S.; Gonçalves, C.I.; Almeida, J.T.; Azevedo, T.; Martins, T.; Rodrigues, F.J.; Lemos, M.C.. "Association of Vitamin D Pathway Genetic Variation and Thyroid Cancer". Genes 10 8 (2019): 572. http://dx.doi.org/10.3390/genes10080572.
    10.3390/genes10080572
  8. Gonçalves, C.I.; Patriarca, F.M.; Aragüés, J.M.; Carvalho, D.; Fonseca, F.; Martins, S.; Marques, O.; et al. "High frequency of CHD7 mutations in congenital hypogonadotropic hypogonadism". Scientific Reports 9 1 (2019): 1597. http://dx.doi.org/10.1038/s41598-018-38178-y.
    10.1038/s41598-018-38178-y
  9. Gonçalves, C.I.; Fonseca, F.; Borges, T.; Cunha, F.; Lemos, M.C.. "Expanding the genetic spectrum of ANOS1 mutations in patients with congenital hypogonadotropic hypogonadism". Human Reproduction 32 3 (2017): 704-711. http://www.scopus.com/inward/record.url?eid=2-s2.0-85019954193&partnerID=MN8TOARS.
    10.1093/humrep/dew354
  10. Gonçalves, C.I.; Aragüés, J.M.; Bastos, M.; Barros, L.; Vicente, N.; Carvalho, D.; Lemos, M.C.. "GNRHR biallelic and digenic mutations in patients with normosmic congenital hypogonadotropic hypogonadism". Endocrine Connections 6 6 (2017): 360-366. http://www.scopus.com/inward/record.url?eid=2-s2.0-85026223473&partnerID=MN8TOARS.
    10.1530/EC-17-0104
  11. Gonçalves, C.; Bastos, M.; Pignatelli, Duarte; Borges, T.; Aragüés, J.M.; Fonseca, F.; Pereira, B.D.; Socorro, S.; Lemos, M.C.. "Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: evidence for the involvement of an alternatively spliced isoform". Fertility and Sterility 104 5 (2015): 1261-1267.e1. http://dx.doi.org/10.1016/j.fertnstert.2015.07.1142.
    10.1016/j.fertnstert.2015.07.1142
  12. Gonçalves, C.I.; Lobo-Da-Cunha, A.. "Seasonal and starvation-induced changes on gonads and lipid reserves of the digestive gland of Nucella lapillus (Caenogastropoda)". Journal of the Marine Biological Association of the United Kingdom 93 3 (2013): 817-824. http://www.scopus.com/inward/record.url?eid=2-s2.0-84876110416&partnerID=MN8TOARS.
    10.1017/S0025315412001002
  13. Fonseca, V.F.; Vasconcelos, R.P.; Gamito, R.; Pasquaud, S.; Gonçalves, C.I.; Costa, J.L.; Costa, M.J.; Cabral, H.N.. "Fish community-based measures of estuarine ecological quality and pressure-impact relationships". Estuarine, Coastal and Shelf Science 134 (2013): 128-137. http://www.scopus.com/inward/record.url?eid=2-s2.0-84887616527&partnerID=MN8TOARS.
    10.1016/j.ecss.2013.02.001
  14. Pasquaud, S.; Courrat, A.; Fonseca, V.F.; Gamito, R.; Gonçalves, C.I.; Lobry, J.; Lepage, M.; Costa, M.J.; Cabral, H.. "Strength and time lag of relationships between human pressures and fish-based metrics used to assess ecological quality of estuarine systems". Estuarine, Coastal and Shelf Science 134 (2013): 119-127. http://www.scopus.com/inward/record.url?eid=2-s2.0-84887607689&partnerID=MN8TOARS.
    10.1016/j.ecss.2013.02.002
  15. Costa, J.L.; Marques, J.F.; Alves, J.; Gamito, R.; Fonseca, V.F.; Gonçalves, C.I.; Cabral, H.N.; Costa, M.J.. "Is parasitism in fish a good metric to assess ecological water quality in transitional waters? What can be learned from two estuarine resident species?". Ecological Indicators 19 (2012): 154-160. http://www.scopus.com/inward/record.url?eid=2-s2.0-84858748642&partnerID=MN8TOARS.
    10.1016/j.ecolind.2011.08.025
  16. Gamito, R.; Pasquaud, S.; Courrat, A.; Drouineau, H.; Fonseca, V.F.; Gonçalves, C.I.; Wouters, N.; et al. "Influence of sampling effort on metrics of fish-based indices for the assessment of estuarine ecological quality". Ecological Indicators 23 (2012): 9-18. http://www.scopus.com/inward/record.url?eid=2-s2.0-84860631915&partnerID=MN8TOARS.
    10.1016/j.ecolind.2012.03.009
  17. Gonçalves, C.I.; Pasquaud, S.; Gamito, R.; Fonseca, V.F.; Costa, J.L.; Erzini, K.; Gonalves, J.M.S.; et al. "Robustness of the Estuarine Fish Assessment Index (EFAI) regarding water body definition criteria". Ecological Indicators 20 (2012): 1-8. http://www.scopus.com/inward/record.url?eid=2-s2.0-84857681798&partnerID=MN8TOARS.
    10.1016/j.ecolind.2012.02.001
  18. Cabral, H.N.; Fonseca, V.F.; Gamito, R.; Gonçalves, C.I.; Costa, J.L.; Erzini, K.; Gonalves, J.; et al. "Ecological quality assessment of transitional waters based on fish assemblages in Portuguese estuaries: The Estuarine Fish Assessment Index (EFAI)". Ecological Indicators 19 (2012): 144-153. http://www.scopus.com/inward/record.url?eid=2-s2.0-84858748846&partnerID=MN8TOARS.
    10.1016/j.ecolind.2011.08.005
  19. Barroso, C.M.; Gonçalves, C.; Moreira, M.H.. "Growth, reproductive cycle and penis shedding of Littorina littorea in the Ria de Aveiro (north-west Portugal)". Journal of the Marine Biological Association of the United Kingdom 87 2 (2007): 547-550. http://www.scopus.com/inward/record.url?eid=2-s2.0-34247475371&partnerID=MN8TOARS.
    10.1017/S002531540705237X
Thesis / Dissertation
  1. Gonçalves, Catarina. "Molecular Genetics of Idiopathic Hypogonadotropic Hypogonadism". PhD, Universidade da Beira Interior Faculdade de Ciências da Saúde, 2016. http://hdl.handle.net/10400.6/4211.
  2. Gonçalves, Catarina. "Changes in lipid reserves in the digestive gland of Nucella lapillus (Mollusca, Neogastropoda)". Master, Universidade de Coimbra Faculdade de Ciencias e Tecnologia, 2008.
Activities

Oral presentation

Presentation title Event name
Host (Event location)
2023/07/11 Genetics of congenital hypogonadotropic hypogonadism in the portuguese population. XVIII International CICS-UBI Symposium, Covilhã, Portugal.
Universidade da Beira Interior centro de investigação em Ciências da Saúde (Covilhã, Portugal)
2023/07/11 AIP mutations in young portuguese patients with sporadic pituitary macroadenomas. XVIII International CICS-UBI Symposium, Covilhã, Portugal.
Universidade da Beira Interior centro de investigação em Ciências da Saúde (Covilhã, Portugal)
2023/07/11 Combined pituitary hormone deficiency: prevalence of PROP1 mutations in portuguese patients. XVIII International CICS-UBI Symposium, Covilhã, Portugal.
Universidade da Beira Interior centro de investigação em Ciências da Saúde (Covilhã, Portugal)
2023/02/05 Mutações no gene AIP em doentes portugueses jovens com macroadenomas hipofisários esporádicos. Congresso Português de Endocrinologia, 74ª Reunião Anual da SPEDM
Sociedade Portuguesa de Endocrinologia, Diabetes e Metabolismo (Vilamoura, Portugal)
2018/05/03 Molecular genetics of hypogonadotrophic hypogonadism. Lunch seminar.
Universidade da Beira Interior Centro de Investigação em Ciências da Saúde (University of Beira Interior Health Sciences Research Center) (Covilhã, Portugal)
2018/03/07 Genetics of hypogonadotrophic hypogonadism. III Cycle of Conferences of Biomedical Sciences.
Universidade da Beira Interior Faculdade de Ciências da Saúde (University of Beira Interior Faculty of Health Sciences). (Covilhã, Portugal)
2017/09/30 Genetics of hypogonadotropic hypogonadism. Summer School of the Portuguese Society of Endocrinology, Diabetes and Metabolism.
Sociedade Portuguesa de Endocrinologia Diabetes e Metabolismo (Portuguese Society of Endocrinology, Diabetes and Metabolism). (Aveiro, Portugal)
2017/06/28 Genetics contribution to the molecular characterization of hypogonadotropic hypogonadism. Lecture.
Faculdade de Medicina da Universidade do Porto (Faculty of Medicine of the University of Porto). (Porto, Portugal)
2017/05/21 Research developed in the Genomics Laboratory. Lecture.
Centro Hospitalar Cova da Beira e Universidade da Beira Interior Faculdade de Ciências da Saúde (Cova da Beira Hospital Center and University of Beira Interior Faculty of Health Sciences). (Covilhã, Portugal)
2016/07/02 Genetics contribution to the molecular characterization of hypogonadotropic hypogonadism. Lecture.
Faculdade de Medicina da Universidade do Porto (Faculty of Medicine of the University of Porto). (Porto, Portugal)
2016/01/28 Prevalence of genetic defects in patients with idiopathic hypogonadotropic hypogonadism. 67th Annual Meeting of the Portuguese Society of Endocrinology, Diabetes and Metabolism.
Sociedade Portuguesa de Endocrinologia Diabetes e Metabolismo (Portuguese Society of Endocrinology, Diabetes and Metabolism). (Coimbra, Portugal)
2015/07/06 Prevalence of genetic mutations in patients with Congenital Hypogonadotropic Hypogonadism. X Annual CICS-UBI Symposium
Universidade da Beira Interior Centro de Investigação em Ciências da Saúde (University of Beira Interior Health Sciences Research Center). (Covilhã, Portugal)
2015/01/22 Hypogonadotropic hypogonadism: identification of 6 new mutations in the FGFR1 gene. 66th Annual Meeting of the Portuguese Society of Endocrinology, Diabetes and Metabolism, Funchal, Portugal.
Sociedade Portuguesa de Endocrinologia Diabetes e Metabolismo (Portuguese Society of Endocrinology, Diabetes and Metabolism). (Funchal, Portugal)
2014/04 Clinical and molecular characterization of a group of patients with hypogonadotropic hypogonadism. Pituitary Study Group, Portuguese Society of Endocrinology, Diabetes and Metabolism.
Sociedade Portuguesa de Endocrinologia, Diabetes e Metabolismo (Portuguese Society of Endocrinology, Diabetes and Metabolism). (Coimbra, Portugal)
2010/09/14 Estuarine Fish Assessment Index (EFAI): a multimetric tool for the assessment of the ecological status of transitional waters. 47th International Symposium of the Estuarine and Coastal Sciences Association.
Estuarine and Coastal Sciences Association. (Figueira da Foz, Portugal)
2010/09/14 Is parasitism of fishes a good metric to assess ecological water quality in transitional waters? What can be learned from two estuarine resident species? 47th International Symposium of the Estuarine and Coastal Sciences Association.
Estuarine and Coastal Sciences Association. (Figueira da Foz, Portugal)
2007/11/23 Seasonal variation of lipid reserves in the digestive gland of males and females of Nucella lapillus (Neogastropoda). Portuguese Congress of Malacology.
Instituto Português de Malacologia (Portuguese Institute of Malacology). (Lisboa, Portugal)

Supervision

Thesis Title
Role
Degree Subject (Type)
Institution / Organization
2023/01/12 - Current Next Generation Sequencing to identify new genes for MODY diabetes.
Co-supervisor
Biomedicine (PhD)
Universidade da Beira Interior Faculdade de Ciências da Saúde, Portugal
2020/11/02 - Current Identification of new genetic causes of congenital hypogonadotropic hypogonadism using next-generation sequencing.
Co-supervisor
Biomedicine (PhD)
Universidade da Beira Interior Faculdade de Ciências da Saúde, Portugal
2020/04/01 - Current Genetic risk factors for pituitary adenomas: a national, multicenter, genetic and clinical analysis.
Co-supervisor
Biomedicine (PhD)
Universidade da Beira Interior Faculdade de Ciências da Saúde, Portugal
2024/01/01 - 2024/01/31 Genetics and Molecular Biology Internship as part of the Clinical Pathology internship in the 4th year of medicine.
Supervisor
Medicine (Degree)
Universidade da Beira Interior Centro de Investigação em Ciências da Saúde, Portugal
2022 - 2023 Genetic diagnosis of patients with Mody diabetes.
Co-supervisor
Human Biology Project (Scientific initiation)
Universidade de Évora, Portugal

Universidade da Beira Interior Centro de Investigação em Ciências da Saúde, Portugal
2022 - 2023 Genetic diagnosis of patients with Congenital Hypogonadotropic Hypogonadism.
Co-supervisor
Human Biology Project (Scientific initiation)
Universidade de Évora, Portugal

Universidade da Beira Interior Centro de Investigação em Ciências da Saúde, Portugal
2018/01/01 - 2018/01/31 "Genetics and Molecular Biology Internship as part of the Clinical Pathology internship in the 4th year of medicine"
Supervisor
Medicine (Degree)
Universidade da Beira Interior Centro de Investigação em Ciências da Saúde, Portugal
2017 - 2018 "Vitamin D and thyroid cancer: a genetic association study."
Co-supervisor
Biochemistry (Master)
Universidade da Beira Interior Faculdade de Ciências, Portugal

Event organisation

Event name
Type of event (Role)
Institution / Organization
2020/10/01 - 2020/10/02 Organization of the XV Annual CICS-UBI Symposium (2020/10/01 - 2020/10/02)
Symposium (Member of the Organising Committee)
Universidade da Beira Interior Centro de Investigação em Ciências da Saúde, Portugal
2013/06/01 - 2013/06/02 Organization of the VIII annual CICS Symposium. (2013/06/01 - 2013/06/02)
Symposium (Member of the Organising Committee)
Universidade da Beira Interior Centro de Investigação em Ciências da Saúde, Portugal

Event participation

Activity description
Type of event
Event name
Institution / Organization
2024/02/01 - 2024/02/04 Participation in the Portuguese Congress of Endocrinology 2024, 75st Annual Meeting of SPEDM, Vilamoura, Portugal.
Congress
Participation in the Portuguese Congress of Endocrinology 2024, 75st Annual Meeting of SPEDM, Vilamoura, Portugal.
Sociedade Portuguesa de Endocrinologia Diabetes e Metabolismo, Portugal
2023/07/10 - 2023/07/11 Participation in the XVIII International CICS-UBI Symposium, Covilhã, Portugal.
Symposium
Participation in the XVIII International CICS-UBI Symposium, Covilhã, Portugal.
Universidade da Beira Interior Centro de Investigação em Ciências da Saúde, Portugal
2023/06/10 - 2023/06/13 Participation in the European Human Genetics Conference 2023, Glasgow, Scotland, UK.
Conference
European Human Genetics Conference 2023, Glasgow, Scotland, UK.
European Society of Human Genetics, Austria
2023/02/02 - 2023/02/05 Participation in the Portuguese Congress of Endocrinology 2023, 74st Annual Meeting of SPEDM, Vilamoura, Portugal.
Congress
Portuguese Congress of Endocrinology 2023, 74st Annual Meeting of SPEDM, Vilamoura, Portugal.
Sociedade Portuguesa de Endocrinologia Diabetes e Metabolismo, Portugal
2020/01/23 - 2020/01/26 Participation in the Portuguese Congress of Endocrinology 2020, 71st Annual Meeting of SPEDM, Coimbra, Portugal.
Congress
Portuguese Congress of Endocrinology 2020, 71st Annual Meeting of SPEDM, Coimbra, Portugal.
Sociedade Portuguesa de Endocrinologia Diabetes e Metabolismo, Portugal
2019/11/08 - 2019/11/08 Review of basic concepts of genetics, introduction to NGS technologies, classification of variants and importance of population allelic frequency. Practical examples of alignment, prioritization of genes and variants were also resolved.
Seminar
NGS/WES - Genomic Revolution in the Clinical Practice.
Sociedade Portuguesa de Doenças Metabólicas - SPDM, Portugal

Centro Hospitalar Universitário do Porto EPE Maternidade Júlio Dinis, Portugal
2018/02/01 - 2018/02/04 Participation in the Portuguese Congress of Endocrinology 2018, 69th Annual Meeting of SPEDM, Vilamoura, Portugal.
Congress
Portuguese Congress of Endocrinology 2018, 69th Annual Meeting of SPEDM, Vilamoura, Portugal.
Sociedade Portuguesa de Endocrinologia Diabetes e Metabolismo, Portugal
2015/06/06 - 2015/06/07 Participation in the X annual CICS Symposium, Covilhã, Portugal.
Symposium
X annual CICS Symposium.
Universidade da Beira Interior Centro de Investigação em Ciências da Saúde, Portugal
2015/05/27 - 2015/05/27 Participation in the event "Clinical Aplications on Miseq and NextSeq", Lisboa, Portugal.
Conference
"Clinical Aplications on Miseq and NextSeq".
I.L.C. Instrumentos de Laboratório e Científicos, Lda., Portugal
2015/04/27 - 2015/04/29 Participation in COST Action BM1105 Scientific Meeting and Training School, Prato, Italy.
Meeting
COST Action BM1105 Scientific Meeting and Training School.
Monash University Prato Centre, Italy

Monash University Faculty of Science, Australia
2015/01/22 - 2015/01/25 Participation in the Portuguese Congress of Endocrinology 2015, 66th Annual Meeting of SPEDM, Funchal, Madeira.
Congress
Portuguese Congress of Endocrinology 2015, 66th Annual Meeting of SPEDM.
Sociedade Portuguesa de Endocrinologia Diabetes e Metabolismo, Portugal
2010/09/14 - 2010/09/19 Participation in the Estuarine & Coastal Sciences Association (ECSA) 47 Symposium, Figueira da Foz, Portugal.
Symposium
Estuarine & Coastal Sciences Association (ECSA) 47 Symposium.
Center of Oceanography, Faculty of Sciences., Portugal

Institute of Marine Research, Department of Life Sciences, FCT, University of Coimbra., Portugal
2007/11/23 - 2007/11/24 Participation in the Portuguese Congress of Malacology 2007, Lisboa, Portugal.
Congress
Portuguese Congress of Malacology 2007.
Instituto Português de Malacologia., Portugal
2003/05/16 - 2003/05/17 Participation in the II National Colloquium on Malacology, Lisboa, Portugal. II National Colloquium on Malacology.
Instituto Português de Malacologia., Portugal
2002/12/13 - 2002/12/14 Participation in the XXXVII Annual Meeting of the Portuguese Society of Electron Microscopy and Cell Biology, Funchal, Portugal.
Meeting
XXXVII Annual Meeting of the Portuguese Society of Electron Microscopy and Cell Biology, Funchal, Portugal.
Sociedade Portuguesa de Microscopia Electrónica e Biologia Celular., Portugal

Jury of academic degree

Topic
Role
Candidate name (Type of degree)
Institution / Organization
2018/11/14 NRF2 polymorphism rs3562124, how to identify the three genotypes? Method identification and optimization.
(Thesis) Arguer
Ana Isabel Esteves Preto (Master)
Universidade da Beira Interior Faculdade de Ciências da Saúde, Portugal

Course / Discipline taught

Academic session Degree Subject (Type) Institution / Organization
2023/05/08 - 2023/05/19 Operation of the sequencing laboratory - Subject Student Choices. 3rd year of the Integrated Master's Degree in Medicine (Mestrado integrado) Universidade da Beira Interior Faculdade de Ciências da Saúde, Portugal
2023/03/30 - 2023/03/30 Direct application of sanger sequencing in research. Bioinformatic (Curso Técnico Superior Profissional) Instituto Politécnico da Guarda, Portugal
2019/03/25 - 2019/03/25 Genetics of Metabolic Diseases. Biochemistry. (Mestrado) Universidade da Beira Interior Faculdade de Ciências, Portugal
2019/03/25 - 2019/03/25 Human Molecular Genetics. Biomedical Sciences. (Mestrado) Universidade da Beira Interior Faculdade de Ciências da Saúde, Portugal
2018/07/09 - 2018/07/09 Genetics of Metabolic Diseases. Biochemistry. (Mestrado) Universidade da Beira Interior Faculdade de Ciências, Portugal
2018/07/09 - 2018/07/09 Human Molecular Genetics. Biomedical Sciences. (Mestrado) Universidade da Beira Interior Faculdade de Ciências da Saúde, Portugal
2017/06/28 - 2017/06/28 Genetics contribution to the molecular characterization of hypogonadotropic hypogonadism. Doctoral program in Medicine and Molecular Oncology (Doutoramento) Universidade do Porto Faculdade de Medicina, Portugal
2016/07/02 - 2016/07/02 Genetics contribution to the molecular characterization of hypogonadotropic hypogonadism. Doctoral program in Medicine and Molecular Oncology (Doutoramento) Universidade do Porto Faculdade de Medicina, Portugal
Distinctions

Award

2023 Casuistry award - AIP gene mutations in young Portuguese patients with sporadic pituitary macroadenomas
Sociedade Portuguesa de Endocrinologia Diabetes e Metabolismo, Portugal
2023 Oral Communication Award - XVIII International CICS-UBI Symposium
Universidade da Beira Interior Centro de Investigação em Ciências da Saúde, Portugal
2021 Grant 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, Portugal
2018 Grant 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, Portugal

Novartis Oncology, United States
2015 Casuistry award - Hypogonadotropic hypogonadism: identification of 6 new mutations of the FGFR1 gene
Sociedade Portuguesa de Endocrinologia Diabetes e Metabolismo, Portugal