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Identification

Personal identification

Full name
Ana Rita Ferreira Pacheco Quental

Citation names

  • Quental, Rita
  • Rita Quental

Author identifiers

Ciência ID
F215-708D-2019
ORCID iD
0000-0003-3856-244X

Email addresses

  • rita.quental@chsj.min-saude.pt (Professional)

Knowledge fields

  • Medical and Health Sciences - Clinical Medicine

Languages

Language Speaking Reading Writing Listening Peer-review
Portuguese (Mother tongue)
English Advanced (C1) Proficiency (C2) Advanced (C1) Proficiency (C2) Upper intermediate (B2)
Education
Degree Classification
2011 - 2017/07/05
Concluded
Medicina (Mestrado)
Major in Sem especialização
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
"Immunotherapy in colorectal cancer: is there a role?" (THESIS/DISSERTATION)
17 valores
2011/03/24
Concluded
Biologia (Doutoramento)
Major in Sem especialidade
Universidade do Porto Faculdade de Ciências, Portugal
"Molecular and Evolutionary Perspectives on the Glycosylation Pathway" (THESIS/DISSERTATION)
Aprovado com distinção
2004
Concluded
Biologia (Licenciatura)
Major in Científico
Universidade do Porto Faculdade de Ciências, Portugal
17
Affiliation

Other Careers

Category
Host institution
Employer
2019/01/01 - Current Interno (Médica) Centro Hospitalar Universitário de São João, Portugal
Centro Hospitalar Universitário de São João, Portugal
2018/01/01 - 2018/12/31 Interno (Médica) Unidade Local de Saúde de Matosinhos EPE, Portugal
Unidade Local de Saúde de Matosinhos EPE, Portugal
Projects

Contract

Designation Funders
2007/10/01 - 2010/09/30 ANÁLISE TRANS-ESPECÍFICA DO IMPACTO FISIOLÓGICO DE GENES INACTIVADOS
PTDC/CVT/64154/2006
Universidade do Porto Instituto de Patologia e Imunologia Molecular, Portugal
Fundação para a Ciência e a Tecnologia
Concluded
2006/02/01 - 2010/01/31 CONGENITAL DISORDERS OF GLYCOSYLATION CDG: ENZYMATIC, BIOCHEMICAL AND MOLECULAR FEATURES
SFRH/BD/23657/2005
PhD Student Fellow
Universidade do Porto Faculdade de Ciências, Portugal
Fundação para a Ciência e a Tecnologia
Concluded
Outputs

Publications

Conference poster
  1. Quental, Rita; Liliana Rocha; Filipa Carvalho; Miguel Leão. "História familiar de Síndrome de X-Frágil: caso raro de mosaicismo somático e importância dos métodos de diagnóstico". Paper presented in 1as Jornadas Digitais de Pediatria, 2020.
  2. "Blended phenotypes: an unusual expression of genetic heterogeneity". Paper presented in European Human Genetics Virtual Conference, 2020.
  3. Quental, Ana; Ana Grangeia; Isabel Alonso; Susana Fernandes; Miguel Leão. "Next-Generation Sequencing approach for a wide range of genetic disorders: the experience of a Portuguese Academic Hospital". Paper presented in European Human Genetics Virtual Conference, 2020.
  4. Quental, Ana; Ana Grangeia; Esmeralda Rodrigues; Isabel Alonso; Miguel Leão. "Novel NUBPL variants revealed by whole-exome sequencing in a child with ataxic gait". Paper presented in 16th International Symposium of the Portuguese Society of Metabolic Disorders, 2020.
  5. Rita Quental; Ana Grangeia; Isabel Alonso; Miguel Leão. "Novel YY1 pathogenic variant: expanding the phenotype of Gabriele-de Vries Syndrome". Paper presented in 23ª Reunião Anual da Sociedade Portuguesa de Genética Humana, 2019.
  6. Ana Grangeia; Quental, Rita; Sofia Dória; Helena Santos; Miguel Leão. "A novel RAD21 variant in a family with mild Cornelia de Lange syndrome phenotype". Paper presented in 23ª Reunião Anual da Sociedade Portuguesa de Genética Humana, 2019.
  7. Quental, Rita; Luísa Sampaio; Miguel Leão. "Nova Variante no Gene COL4A1 Associada a uma Apresentação Clínica Incomum". Paper presented in I Fórum de Pediatria do Centro Hospitalar São João, 2019.
  8. Ana Grangeia; Rita Quental; Sofia Dória; Miguel Leão. "Steroid Sulfatase Deficiency in a contiguous gene syndrome". Paper presented in 15th International Symposium SPDM, 2019.
Journal article
  1. Rita Rodrigues; Rita Quental; Renato Santos Silva; Lídia Costa; Sérgio Estrela-Silva. "Unraveling Hermansky–Pudlak syndrome type 7: a case report and comprehensive literature review on the identification of DTNBP1 variants". Ophthalmic Genetics (2023): https://doi.org/10.1080/13816810.2023.2291670.
    10.1080/13816810.2023.2291670
  2. Rita Quental; Mafalda Sampaio; Isabel Alonso; Sofia Quental; Miguel Leão; Raquel Sousa. "A Novel Homozygous Splice Site Variant in AIMP1 Gene Causing Hypomyelinating Leukodystrophy: Case Report and Review of the Literature". Neuropediatrics (2023): https://doi.org/10.1055/s-0042-1760366.
    10.1055/s-0042-1760366
  3. Rita Quental; Daniel Gonçalves; Esmeralda Rodrigues; Edite Serrano Gonçalves; Jorge Oliveira; João Parente Freixo; Miguel Leão. "Congenital heart defects associated with pathogenic variants in WAC gene: Expanding the phenotypic and genotypic spectrum of DeSanto-Shinawi syndrome". American Journal of Medical Genetics Part A (2022): https://doi.org/10.1002/ajmg.a.62636.
    10.1002/ajmg.a.62636
  4. Quental, Rita; Joana Pires Borges; Helena Santos; Miguel Leão. "Expanding the phenotypic spectrum of HIVEP2-related intellectual disability: description of two Portuguese patients and review of literature". Molecular Syndromology (2022):
    Accepted
  5. Ricardo Barreto Mota; Joana Figueirinha; Quental, Rita; Jacinta Fonseca; Cláudia Melo; Mafalda Sampaio; Raquel Sousa. "X-linked myotubular myopathy: a clinical report and a review of the mild phenotype". Revista de Neurología (2022):
    Accepted
  6. Lorena Stella; Joana Tenente; Quental, Rita; Helena Santos; Miguel Leão. "MYT1L duplication in a Portuguese patient with intellectual disability and obesity". International Journal of Medical Reviews and Case Reports 6 2 (2022): 50-52.
    Published
  7. Ganhão, Sara; Loureiro, Graça Barros; Oliveira, Diana Rita; dos-Reis-Maia, Rúben; Aguiar, Francisca; Quental, Rita; Moura, Carla; et al. "Two cases of ADA2 deficiency presenting as childhood polyarteritis nodosa: novel ADA2 variant, atypical CNS manifestations, and literature review". Clinical Rheumatology 39 12 (2020): 3853-3860. http://dx.doi.org/10.1007/s10067-020-05210-4.
    10.1007/s10067-020-05210-4
  8. Pereira-Castro, Isabel; Quental, Rita; da Costa, Luís T.; Amorim, António; Azevedo, Luisa. "Successful COG8 and PDF overlap is mediated by alterations in splicing and polyadenylation signals". Human Genetics 131 2 (2011): 265-274. http://dx.doi.org/10.1007/s00439-011-1075-9.
    10.1007/s00439-011-1075-9
  9. Quental, Rita; Moleirinho, Ana; Azevedo, Luísa; Amorim, António. "Evolutionary History and Functional Diversification of Phosphomannomutase Genes". Journal of Molecular Evolution 71 2 (2010): 119-127. http://dx.doi.org/10.1007/s00239-010-9368-5.
    10.1007/s00239-010-9368-5
  10. Quental, Rita; Azevedo, Luísa; Matthiesen, Rune; Amorim, António. "Comparative analyses of the Conserved Oligomeric Golgi (COG) complex in vertebrates". BMC Evolutionary Biology 10 1 (2010): 212. http://dx.doi.org/10.1186/1471-2148-10-212.
    10.1186/1471-2148-10-212
  11. Quental, R; Azevedo, L; Rubio, V; Diogo, L; Amorim, A. "Molecular mechanisms underlying large genomic deletions in ornithine transcarbamylase (OTC) gene". Clinical Genetics 75 5 (2009): 457-464. http://dx.doi.org/10.1111/j.1399-0004.2009.01172.x.
    10.1111/j.1399-0004.2009.01172.x
  12. Quelhas, D.; Quental, R.; Vilarinho, L.; Amorim, A.; Azevedo, L.. "Congenital Disorder of Glycosylation Type Ia: Searching for the Origin of Common Mutations in PMM2". Annals of Human Genetics 71 3 (2006): 348-353. http://dx.doi.org/10.1111/j.1469-1809.2006.00334.x.
    10.1111/j.1469-1809.2006.00334.x
  13. Azevedo, L.; Soares, P. A.; Quental, Rita; Vilarinho, L.; Teles, E. L.; Martins, E.; Diogo, L.; et al. "Mutational Spectrum and Linkage Disequilibrium Patterns at the Ornithine Transcarbamylase Gene (OTC)". Annals of Human Genetics 70 6 (2006): 797-801. http://dx.doi.org/10.1111/j.1469-1809.2006.00283.x.
    10.1111/j.1469-1809.2006.00283.x
Thesis / Dissertation
  1. Ana Rita Ferreira Pacheco Quental. "Immunotherapy in colorectal cancer: is there a role?". Master, 2017. https://repositorio-aberto.up.pt/handle/10216/109083.
  2. Quental, Ana. "Molecular and Evolutionary Perspectives on the Glycosylation Pathway". PhD, Universidade do Porto Instituto de Patologia e Imunologia Molecular, 2011.
Activities

Oral presentation

Presentation title Event name
Host (Event location)
2021/11/18 Heart defects, oral cleft, and polydactyly caused by biallelic variants in WDPCP gene involved in ciliogenesis 25º Annual Meeting da Sociedade Portuguesa de Genética Humana
Sociedade Portuguesa de Genética Humana (Portugal)
2020/11/24 Cubilin variants in patients with chronic kidney disease including end-stage 24º Annual Meeting da Sociedade Portuguesa de Genética Humana
Sociedade Portuguesa de Genética Humana (Portugal)
2010 Functional diversification after gene duplication: the PMM1 and PMM2 case 13th Portugaliae Genetica
Universidade do Porto, Instituto de Patologia e Imunologia Molecular (Porto)