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Identification

Personal identification

Full name
Isabel Maria Medeiros Marques

Author identifiers

Ciência ID
1A1C-4676-E72A
ORCID iD
0000-0002-3561-1288

Email addresses

  • isabel.marques@chporto.min-saude.pt (Professional)
  • isabel.medeiros.marques@gmail.com (Personal)

Knowledge fields

  • Medical and Health Sciences - Basic Medicine - Human Genetics
Education
Degree Classification
2007
Concluded
 PhD Biomedical Sciences (Doutoramento)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
"Molecular Biology Characterisation of NADH Dehydrogenases" (THESIS/DISSERTATION)
 --
2001
Concluded
 Bioquímica (Licenciatura)
Universidade do Porto Faculdade de Ciências, Portugal
" Inactivação de um gene codificante da subunidade de 9.8 kDa do complexo I mitocondrial de N. crassa." (THESIS/DISSERTATION)
 --
Affiliation

Science

Category
Host institution 		Employer
2013 - Current Researcher (Research) Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
Universidade do Porto Unidade Multidisciplinar de Investigação Biomédica, Portugal

Other Careers

Category
Host institution 		Employer
2007 - Current Assistente (Técnico Superior de Saúde) Centro Hospitalar Universitário do Porto EPE Centro de Genética Médica Doutor Jacinto Magalhães, Portugal
Centro Hospitalar Universitário do Porto EPE Centro de Genética Médica Doutor Jacinto Magalhães, Portugal
2013 - 2013 Técnico Superior (Técnico Superior) Universidade do Porto Unidade Multidisciplinar de Investigação Biomédica, Portugal

Others

Category
Host institution 		Employer
2015 - Current European registered Clinical Laboratory Geneticist European Board of Medical Genetics (EBMG), Austria
2013/01/02 - Current Member of the research group Clinical & Experimental Human Genomics, UMIB-ICBAS/UP Centro Hospitalar Universitário do Porto EPE Centro de Genética Médica Doutor Jacinto Magalhães, Portugal
2007/07/01 - Current Carreira de Técnico Superior de Saúde, especialista em genética Ministério da Saúde, Portugal
2016/01/01 - 2020/01/01 Clinical Laboratory Geneticist certified by EBMG,ESHG Centro Hospitalar Universitário do Porto EPE, Portugal
2015 - 2015 Umib Universidade do Porto Unidade Multidisciplinar de Investigação Biomédica, Portugal
2001/11/01 - 2007/11/01 PhD student Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
2006/04/01 - 2006/06/30 FCG fellowship - Visitor Scientist Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
2005/08/01 - 2005/10/30 EMBO fellowship, Visitor Scientist Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
Projects

Contract

Designation Funders
2015 - Current GENETIC VARIANTS DISCOVERY IN LUJAN-FRYNS AND OPITZ-KAVEGGIA SYNDROMES
Projeto de investigação 241/13 (154-DEFI/ 193-CES)
Principal investigator
Centro Hospitalar Universitário do Porto EPE Centro de Genética Médica Doutor Jacinto Magalhães
Concluded
2015 - Current GENETIC VARIANTS DISCOVERY IN LUJAN-FRYNS AND OPITZ-KAVEGGIA SYNDROMES
Projeto de investigação 241/13 (154-DEFI/ 193-CES)
 Centro Hospitalar Universitário do Porto EPE Centro de Genética Médica Doutor Jacinto Magalhães
2022/01/03 - 2023/07/02 Investigar o impacto da epigenética associada ao cromossoma X na infertilidade feminina
EXPL/BIA-REP/0423/2021
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal

Universidade do Porto Unidade Multidisciplinar de Investigação Biomédica, Portugal

Centro Hospitalar Universitário do Porto EPE, Portugal
Fundação para a Ciência e a Tecnologia
Ongoing
Outputs

Publications

Book chapter
  1. Marques, Isabel. "Chapter 3 - Study of the FMR1 Gene Structure among Women with Ovarian Dysfunction from the Basque Country". In In Advances in Genetics Research. Nova Science Publishers, Inc, 2014.
    Published
Conference paper
  1. Marques, Isabel. "Cecília Silva, Nuno Maia, Isabel Marques, Gabriela Soares, Ana Fortuna, Rosário Santos, Paula Jorge, FRAXE full mutation identified by a novel TP-PCR screening assay: low frequency or underdiagnosed?". Paper presented in XLVIII Conferências de Genética Doutor Jacinto Magalhães: 40 anos ao serviço da comunidade, Porto, 2020.
    Accepted
  2. Marques, Isabel. "Nuno Maia, Gabriela Soares, Teresa Temudo, Isabel Marques, Bárbara Rodrigues, Ana Maria Fortuna, Rosário Santos, Arjan De Brouwer, Paula Jorge, P31- Autosomal recessive spinocerebellar ataxia 20 – From genotyping to phenotyping, back and forth". Paper presented in 22nd Annual Meeting of the Portuguese Society of Human Genetics, 2018.
    Published
  3. Marques, Isabel. "Nataliya Tkachenko, Gabriela Soares, Ana Rita Soares, Célia Azevedo Soares, Ana Rita Gonçalves, Nuno Maia, Isabel Marques, Paula Jorge, Rosário Santos, Ana Maria Fortuna, Female FMR1 full-mutation carriers: clinical and molecular characterization". Paper presented in 22nd Annual Meeting of the Portuguese Society of Human Genetics, 2018.
    Published
  4. Marques, Isabel. "Isabel Marques, Nuno Maia, M Rosário Santos, High performing AmplideX PCR/CE for Myotonic Dystrophy type I is concordant with a combination of PCR and Southern Blot analysis". Paper presented in 22nd Annual Meeting of the Portuguese Society of Human Genetics, Porto, 2018.
    Published
  5. Marques, Isabel. "Luís Carneiro, Nuno Maia, Paula Jorge, Raquel Chaves, Rosário Santos, Isabel Marques. MLPA® as an approach in the diagnosis of X-linked intellectual disability". Paper presented in XLV Conferências de Genética Doutor Jacinto Magalhães, Centro Hospitalar Universitário do Porto. Genética Cardiovascular: da Clínica ao Laboratório, 2016.
    Published
  6. Marques, Isabel. "Barbara Rodrigues, Isabel Marques, Nuno Maia, Maria J Ortigao, Alexandra Marques, Isabel S Pereira, Rosario Santos, Paula Jorge FMR1 BEYOND INTELLECTUAL DISABILITY: IMPLICATIONS IN REPRODUCTIVE FUNCTION". Paper presented in XLV Conferências de Genética Doutor Jacinto Magalhães, Centro Hospitalar Universitário do Porto. Genética Cardiovascular: da Clínica ao Laboratório, 2016.
  7. Lavor, Otávio Paulino; Fernandes, Humberto Cesar Chaves. "Cathy Paulino*, Isabel Marques*, Raquel Chaves, Paula Jorge e Rosário Santos (2016), *equal contributors Screening for MED12 variants in Opitz-Kaveggia and Lujan-Fryns syndromes". Paper presented in UMIB Summit, 2016.
    10.1063/1.4940266
  8. Caio Cesar Bezerra Carneiro; Jorge André C. Santos; Francisco de Assis Leandro Filho; Rodrigo Alves Patrício; Iramilson Maia da Silva Filho. "Salgado S, Maia N, Cruz E, Marques I, Santos R, Jorge P (2016), FMR1 gene-zygosity discrimination: the use of hrMCA in female sampes". Paper presented in UMIB Summit, 2016.
    10.20906/cps/con-2016-0914
  9. Marques, Isabel. "N Maia, J Loureiro, B Oliveira, I Marques, R Santos, S Martins, P Jorge (2016), Origin of normal-size FMR1 alleles without AGG interspersions (CO17).". Paper presented in UMIB Summit, 2016.
  10. Marques, Isabel. "Nuno Maia*, Isabel Marques*, Rosário Santos, Paula Jorge (2016), *equal contributors, Fragile X syndrome mosaic cases presenting normal-sized alleles: how many are we missing?". Paper presented in XLV Conferências de Genética Doutor Jacinto Magalhães, 2015.
  11. Marques, Isabel. "Oliveira, Márcia E; Maia, Nuno; Marques, Isabel; Santos, Rosário (2015), Molecular profile of Myotonic Dystrophy type 1 (DM1) in portuguese families". Paper presented in XLIV Conferências de Genética Doutor J acinto Magalhães, 2015.
  12. Marques, Isabel. "Maia, Nuno; Marques, Isabel; Jorge, Paula; Santos, Rosário (2014), Next generation fragile-X testing: getting away from southern blots". Paper presented in XLIII Conferências de Genética Doutor Jacinto Magalhães, 2014.
  13. Marques, Isabel. "M. J. Sá, Soares G. Soares, J. Silva, Fortuna A. Fortuna, R. Santos, Isabel Marques, P. Jorge (2013), ARX-Related Disorders: several distinct phenotypes, one mutated gene". Paper presented in 14º Congresso Nacional de Pediatria, 2013.
Journal article
  1. Bárbara Rodrigues; Ana Gonçalves; Vanessa Sousa; Nuno Maia; Isabel Marques; Emídio Vale-Fernandes; Rosário Santos; António J. A. Nogueira; Paula Jorge. "Use of the FMR1 Gene Methylation Status to Assess the X-Chromosome Inactivation Pattern: A Stepwise Analysis". Genes (2022): https://doi.org/10.3390/genes13030419.
    10.3390/genes13030419
  2. "Development and validation in 500 female samples of a TP-PCR assay to identify AFF2 GCC expansions". Scientific Reports 11 1 (2021): http://dx.doi.org/10.1038/s41598-021-93473-5.
    10.1038/s41598-021-93473-5
  3. Maia, Nuno; Soares, Gabriela; Silva, Cecília; Marques, Isabel; Rodrigues, Bárbara; Santos, Rosário; Melo-Pires, Manuel; et al. "Two Compound Heterozygous Variants in SNX14 Cause Stereotypies and Dystonia in Autosomal Recessive Spinocerebellar Ataxia 20". Frontiers in Genetics 11 (2020): http://dx.doi.org/10.3389/fgene.2020.01038.
    10.3389/fgene.2020.01038
  4. Maia, Nuno; Soares, Ana Rita; Fortuna, Ana Maria; Marques, Isabel; Gonçalves, Ana; Santos, Rosário; Melo Pires, Manuel; de Brouwer, Arjan P. M.; Jorge, Paula. "Usher syndrome and Nebulin-associated myopathy in a single patient due to variants in MYO7A and NEB". Clinical Case Reports (2020): http://dx.doi.org/10.1002/ccr3.3146.
    10.1002/ccr3.3146
  5. Jorge, Paula; Garcia, Elsa; Gonçalves, Ana; Marques, Isabel; Maia, Nuno; Rodrigues, Bárbara; Santos, Helena; et al. "Classical fragile-X phenotype in a female infant disclosed by comprehensive genomic studies". BMC Medical Genetics 19 1 (2018): http://dx.doi.org/10.1186/s12881-018-0589-6.
    10.1186/s12881-018-0589-6
  6. Maia, Nuno; Nabais Sá, Maria J.; Tkachenko, Nataliya; Soares, Gabriela; Marques, Isabel; Rodrigues, Bárbara; Fortuna, Ana M.; et al. "Two Novel Pathogenic MID1 Variants and Genotype-Phenotype Correlation Reanalysis in X-Linked Opitz G/BBB Syndrome". Molecular Syndromology 9 1 (2017): 45-51. http://dx.doi.org/10.1159/000479177.
    10.1159/000479177
  7. Maia, Nuno; Loureiro, Joana R; Oliveira, Bárbara; Marques, Isabel; Santos, Rosário; Jorge, Paula; Martins, Sandra. "Contraction of fully expanded FMR1 alleles to the normal range: predisposing haplotype or rare events?". Journal of Human Genetics 62 2 (2016): 269-275. http://dx.doi.org/10.1038/jhg.2016.122.
    10.1038/jhg.2016.122
  8. Marques, Isabel; Sá, Maria João; Soares, Gabriela; Mota, Maria do Céu; Pinheiro, Carla; Aguiar, Lisa; Amado, Marta; et al. "Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach". Molecular Genetics & Genomic Medicine 3 3 (2015): 203-214. http://dx.doi.org/10.1002/mgg3.133.
    10.1002/mgg3.133
  9. Jorge, Paula; Oliveira, Bárbara; Marques, Isabel; Santos, Rosário. "Development and validation of a multiplex-PCR assay for X-linked intellectual disability". BMC Medical Genetics 14 1 (2013): http://dx.doi.org/10.1186/1471-2350-14-80.
    10.1186/1471-2350-14-80
  10. Seixas, Ana I; Vale, José; Jorge, Paula; Marques, Isabel; Santos, Rosário; Alonso, Isabel; Fortuna, Ana M; et al. "FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes". Behavioral and Brain Functions 7 1 (2011): 19. http://dx.doi.org/10.1186/1744-9081-7-19.
    10.1186/1744-9081-7-19
  11. Marques, Isabel; Dencher, Norbert A.; Videira, Arnaldo; Krause, Frank. "Supramolecular Organization of the Respiratory Chain in Neurospora crassa Mitochondria". Eukaryotic Cell 6 12 (2007): 2391-2405. http://dx.doi.org/10.1128/ec.00149-07.
    10.1128/ec.00149-07
  12. Marques, I.; Ushakova, A. V.; Duarte, M.; Videira, A.. "Role of the Conserved Cysteine Residues of the 11.5 kDa Subunit in Complex I Catalytic Properties". Journal of Biochemistry 141 4 (2007): 489-493. http://dx.doi.org/10.1093/jb/mvm049.
    10.1093/jb/mvm049
  13. Marques, I.; Dencher, N.A.; Videira, A.; Krause, F.. "Supramolecular organization of the respiratory chain in Neurospora crassa mitochondria". Eukaryotic Cell 6 12 (2007): 2391-2405. http://www.scopus.com/inward/record.url?eid=2-s2.0-37549019364&partnerID=MN8TOARS.
    10.1128/EC.00149-07
  14. Jacobson, D. J.; Dettman, J. R.; Adams, R. I.; Boesl, C.; Sultana, S.; Roenneberg, T.; Merrow, M.; et al. "New findings of Neurospora in Europe and comparisons of diversity in temperate climates on continental scales". Mycologia 98 4 (2006): 550-559. http://dx.doi.org/10.3852/mycologia.98.4.550.
    10.3852/mycologia.98.4.550
  15. Marques, Isabel; Duarte, Margarida; Assunção, Joana; Ushakova, Alexandra V.; Videira, Arnaldo. "Composition of complex I from Neurospora crassa and disruption of two “accessory” subunits". Biochimica et Biophysica Acta (BBA) - Bioenergetics 1707 2-3 (2005): 211-220. http://dx.doi.org/10.1016/j.bbabio.2004.12.003.
    10.1016/j.bbabio.2004.12.003
  16. Marques, Isabel; Duarte, Margarida; Videira, Arnaldo. "The 9.8 kDa Subunit of Complex I, Related to Bacterial Na+-translocating NADH Dehydrogenases, is Required for Enzyme Assembly and Function in Neurospora crassa". Journal of Molecular Biology 329 2 (2003): 283-290. http://dx.doi.org/10.1016/s0022-2836(03)00443-1.
    10.1016/s0022-2836(03)00443-1
  17. Marques, I.; Duarte, M.; Videira, A.. "The 9.8 kDa subunit of complex I, related to bacterial Na+-translocating NADH dehydrogenases, is required for enzyme assembly and function in Neurospora crassa". Journal of Molecular Biology 329 2 (2003): 283-290. http://www.scopus.com/inward/record.url?eid=2-s2.0-0037723899&partnerID=MN8TOARS.
    10.1016/S0022-2836(03)00443-1
Thesis / Dissertation
  1. Marques, Isabel. "Molecular biology characterization of mitochondrial NADH dehydrogenases". PhD, Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, 2007.
Activities

Oral presentation

Presentation title Event name
Host (Event location)
2019 A de novo HDAC8 missense variant that promotes genome instability. Nuno Maia, Cláudia Oliveira, Maria João Sá, Catarina Prior, Isabel Marques, Ariana Jacome, Rosário Santos, Arjan de Brouwer, Beatriz Porto, Paula Jorge 14th Troina Meeting on Genetics of Neurodevelopmental Disorders
(Troina, Italy)
2018 Molecular causes and pathogenic mechanisms of neurodevelopmental disabilities. Nuno Maia, Márcia Martins, Maria João Nabais Sá, Ana Maria Fortuna, Beatriz Porto, Isabel Marques, Rosário Santos, Arjan PM de Brower, Paula Jorge First Meeting of the PhD in Biomedical Sciences
(Porto, Portugal)
2018 Evaluation of High Performing PCR-only AmplideX Workflow for Myotonic Dystrophy as a Replacement for Southern Blot, Isabel Marques European Human Genetics Conference in conjunction with the European Meeting on Psychosocial Aspects of Genetics
(Milão)
2017 Intellectual disability: one family, two distinct origins Nuno Maia, Maria João Nabais Sá, Ana Maria Fortuna, Isabel Marques, Rosário Santos, Arjan PM de Brower, Paula Jorge. Best oral communication II Congresso de Ciências Biomédicas Laboratoriais
(Castelo Branco, Portugal)
2017 OFD1 missense variant causing na Oral-Facial-Digital Syndrome milder phenotype. Nuno Maia, Maria João Nabais Sá, Ana Maria Fortuna, Isabel Marques, Rosário Santos, Arjan PM de Brower, Paula Jorge XLI Jornadas Portuguesas de Genética
(Portugal)
2016 Comprehensive genomic studies decipher the classical Fragile-X phenotype in a female patient, Paula Jorge, Elsa Garcia, Ana Gonçalves, Isabel Marques, Nuno Maia, Helena Santos, Jacinta Fonseca, Gabriela Soares, Cecília Correia, Margarida Reis-Lima, Rosário Santos. Honourable mention (oral communication) 20ª Reunião Anual da Sociedade Portuguesa de Genética Humana
(Coimbra, Portugal)
2016 Extrema instabilidade intergeracional do tripleto [CGG] em famílias X-frágil, Isabel Marques, Nuno Maia, Joana Loureiro, Patrícia Simões, Sara Rocha, Isabel Silveira, Rosário Santos, Paula Jorge. 3º Congresso Internacional Síndrome de X-Frági
(Evora, Portugal)
2016 Função reprodutiva de doadoras de oócitos relacionada com o número de repetições CGG dos alelos do gene Fragile X Mental Retardation 1, I Marques, N. Maia, M. J. Ortigão, A. Marques, I. S. Pereira, R. Santos, P. Jorge. I Simpósio de Diabesidade e Fertilidade da UMIB
(Porto, Portugal)
2015 Origin of normal-size FMR1 alleles without [AGG] interspersions, Nuno Maia, Joana Loureiro, Bárbara Oliveira, Isabel Marques, Rosário Santos, Sandra, Paula Jorge UMIB Summit 2015
2014 Atypical somatic instability in the FMR1 locus: clinical, molecular and genetic counselling implications, Soeiro e Sá M, Marques Isabel, Moldovan O, Jorge P, Fonseca AC, Paris A, Santos R e Sousa A B. 18ª Reunião da Sociedade Portuguesa de Genética Humana
(Lisboa, Portugal)
2013 Inconsistent genotype-phenotype correlations in ARX-Related Disorders, Marques Isabel, Soares G., Sá M. J., Santos R, Fortuna A., Howell K., Ryan M., Leventer R., Shoubridge C. and Jorge P. 16th International Fragile X and Other Early-Onset Cognitive Disorders Workshop
(Australia)
2011 FRAXA and FRAXOPATHIES, Paula Jorge and Isabel Marques I Congresso Nacional de Bioquímicos, ANBIOQ-LABGEN
(Leiria, Portugal)
2010 17/11/2010 - Molecular Genetics in the Mental retardation diagnosis: old and new paradigms, Paula Jorge; Isabel Marques; Joana Loureiro; Bárbara André; Rosário Santos. ABC da Genética Clínica, Sociedade Portuguesa de Genética Humana, Instituto de Medicina Legal
(Coimbra, Portugal)
2010 FRAGILE X MENTAL RETARDATION GENE AND PROTEIN: BROADENING THE POSSIBILITIES FOR STUDYING FRAGILE X SYNDROME, Bárbara Oliveira; Isabel Marques; Joana Loureiro; Maria Begoña Criado; Rosário Santos; Paula Jorge. Encontro Ibérico de Estudantes de Medicina
(Santiago de Compostela, Spain)
2004 What we know about regional diversity in Neurospora, David Jacobson, Cornelia Boesl, Shahana Sultana, Till Roenneberg, Martha Merrow, Margarida Duarte, Isabel Marques, Alexandra Ushakova, Patrícia Carneiro, Arnaldo Videira, Donald O. Natvig, John Taylor Neurospora 2004, Asilomar Conference Center
(Califórnia, United States)

Event organisation

Event name
Type of event (Role) 		Institution / Organization
2014 - 2020 Conferências de Genética Doutor Jacinto Magalhães (2014 - 2020)
Conference (Member of the Organising Committee)
 Centro Hospitalar Universitário do Porto EPE Centro de Genética Médica Doutor Jacinto Magalhães, Portugal

Jury of academic degree

Topic
Role 		Candidate name (Type of degree)
Institution / Organization
2017 Caraterização de variantes genéticas em genes implicados no défice intelectual
Supervisor
 Luís Carneiro (Master)
Universidade de Trás-os-Montes e Alto Douro Escola de Ciências da Vida e do Ambiente, Portugal
2015 The study of Med12 gene in Lujan-Fryns and Opitz-Kaveggia syndromes
Supervisor
 Cathy Paulino (Master)
Universidade de Trás-os-Montes e Alto Douro Escola de Ciências e Tecnologia, Portugal

Course / Discipline taught

Academic session Degree Subject (Type) Institution / Organization
2015 - Current Docente do módulo Análise genómica: do simples ao complexo Genética Médica e Laboratorial (Pós-Graduação) Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2018 - 2018 Noções Básicas de Genética Molecular; Workshop VI - Abordagem molecular Curso de Formação Avançada em Genética Humana e Laboratorial (Pós-Graduação) (Outros)

Mentoring / Tutoring

Topic Student name
2018 - 2018 Undergraduate supervision Joana Gonçalves
2014 - 2014 Undergraduate supervision Luís Seabra
Distinctions

Other distinction

2016 Menção Honrosa para Comunicação oral
2016 Menção honrosa para Comunicação sob a forma de Poster
2015 Projeto de investigação 241/13 (154-DEFI/ 193-CES) “GENETIC VARIANTS DISCOVERY IN LUJAN-FRYNS AND OPITZ-KAVEGGIA SYNDROMES
2006 EMBO fellowship
Gesellschaft zur Förderung der Lebenswissenschaften Heidelberg GmbH, Germany
2005 FCG fellowship
Fundação Calouste Gulbenkian, Portugal