Short CV

Isabel Marques Carreira

Isabel Marques Carreira graduated in Genetics in the University of the Witwatersrand, Johannesburg, South Africa and received her PhD in Human Genetics in 1993, in the same University. Isabel was appointed as a Medical Scientist in the Department of Human Genetics – Cytogenetics of the South African Institute for Medical Research in Johannesburg from 1985 to 1992. She was then invited to come to the Faculty of Medicine of the University of Coimbra to take the responsibility of the recently created laboratory of Cytogenetics. She has been its Director since 1992 and until the end of 2008 there has been more than 40 000 prenatal and postnatal diagnosis done. For the past 17 years, she is a teacher andCoordinator of the Cellular and Molecular Biology course in the Medical and DentalSchool of the Faculty of Medicine of the University of Coimbra. She has recently been appointed the national coordinator for the European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations.

Scientific Interests:

Her main scientific interests are: biological mechanisms of formation of structural and numerical chromosomal alterations and their implications on the phenotype; mental retardation; infertility; gene expression and cancer genetics. Isabel also has been participating and/or coordinating Master and PhD module programmes or postgraduate courses in the areas of Cytogenetics, Molecular Biology and prenatal diagnosis. She currently supervises 9 Master’s and 2 PhD Students. For the past 5 years Isabel has been involved in 10 research projects being 5 funded Research Grants (FCT).

She has 359 scientific presentations including 73 publications.

Publications in the last three years:

1. F Santiago, R Vieira, M Cordeiro, Isabel M Carreira, A Figueiredo. Late-onsethyperpigmentation: a case with multi-systemic involvement and recombinant Xchromosome. J EurAcademy of Dermatology and Venereology. Letter to theEditor. 1-2:2009. Publicado online 29 Abril 2009. DOI: 10.1111/j.1468-3083.2009.03288.x 2. Melo JB, Matoso E, Polityko A, Saraiva J, Backx L, Vermeesch JR, Kosyakova N, Ewers E, Liehr T, Carreira IM. Molecular cytogeneticcharacterization of two cases with a de novo small supernumerary markerchromosome in mosaic derived from chromosome 16: Towards agenotype/phenotype correlation. Cytogenet Genome Res. (in press).

3. Gil Ana M, Duarte Iola, Marques Joana, Carreira Isabel M, Marques Maria, Ladeirinha Ana, Rocha Cláudia, Melo Joana, Lamego Inês, Calheiros Rita, Silva Tânia. Analytical approaches towards successful human cell metabolome studiesby NMR spectroscopy. Analytical Chemistry (in press) Manuscript ID: ac-2009-00545.R1.

4. Gil Ana, Graça Gonçalo, Duarte Iola, Barros António, Carreira Isabel M, Couceiro Ana Bela, Diaz Sílvia, Galhano Eulália, Goodfellow Brian.1H NMR Based Metabonomics of Human Amniotic Fluid for the Metabolic Characterization of Foetus Malformations. J Proteome Research (in press).Manuscript ID:pr-2009-00386f 5. CF Rodrigues, A M U, A C Almeida, P Santos, E Matoso, I M Carreira, M F Botelho, L Carvalho, M Alves, C Monteiro, A N Costa,V M Moreno, M C Alpoim. Human bronchial epithelial cells malignantly transformed by hexavalentchromium exhibit an aneuploid phenotype but no microsatellite instability.Mutation Research-Fundamental and Molecular Mechanisms of Mutagenesis. (in press).

6. I M Carreira, J B Melo, C Rodrigues, L Backx, J Vermeesch, A Weise, N Kosyakova, G Oliveira, E Matoso. Molecular cytogenetic characterisation of amosaic add(12)(p13.3) with an inv dup(3)(q26.31→qter) detected in an autisticboy. Molecular Cytogenetics J. 2009. DOI:10.1186/1755-8166-2-16

7. M Alves, I M Carreira, P Liberato, A Ramos, M Mafra, A Inverno, A Maia, AP Martins, M Brito, C Monteiro. Identification of a 0,4Kb deletion region in 10q26associated with endometrial carcinoma. Oncology reports. 2009. DOI:10.3892.

8. A Mascarenhas, E Matoso, J Saraiva, M J Julião, H Tonnies, J B Melo, I M Carreira. First prenatally detected small supernumerary neocentromericderivative chromosome 13 resulting in a non-mosaic partial tetrasomy 13q.Cytogenet Genome Res 121:293-297. 2008.

9. Graça G, Duarte I, Goodfellow B, Carreira, I M, Couceiro, A B, Domingues, M, Spraul, M, Tseng, LH, Gil A. Metabolite profiling of human amniotic fluid byhyphenated nuclear magnetic resonance (NMR) spectroscopy. Analytical Chemistry 80(15):6085-6092. 2008.

10. Engenheiro E, Møller RS, Pinto M, Soares G, Nikanorova M, Carreira IM, Ullmann R, Tommerup N, Tümer Z. Mowat-Wilson syndrome: na underdiagnosed syndrome? J Clinical Genetics 73:579-584. 2008.

11. Sérgio B. Sousa, Raquel Pina, Naigel Pereira, Martin Krahn, Jüergen Kohlhase, Katia Gonnet, Nicolas Lévy, Isabel M Carreira, Ana Bela Couceiro, Jorge M. Saraiva. Tetra-amelia and Lung Hypo/Aplasia Syndrome – case report andreview of clinical classification and differential diagnosis. Am J Medical Genetics Part A 146:2799-2803. 2008.

12. A Jardim, J B Melo, E Matoso, L M Pires, L Ramos, I M Carreira. Two newcases of de novo small supernumerary marker chromosomes (sSMC) detectedat prenatal diagnosis. Prenatal Diagnosis 27:380-381. 2007.

13. IM Carreira, A Mascarenhas, E Matoso, AB Couceiro, L Ramos, A Dufke, M Mazauric, R Stressig, N Kosyakova, JB Melo, T Liehr. Three unusual butcytogenetically similar cases with up to five different cell lines involvingstructural and numerical abnormalities of chromosome 18. J Histochem Cytochem 55:1123-1128. 2007.

14. Gonçalo Graça, Iola F. Duarte, Brian J. Goodfellow J; António S. Barros, Isabel M Carreira, Ana Bela Couceiro, Manfred Spraul, Ana M Gil. Potential ofNMR Spectroscopy for the study of Human Amniotic Fluid. Analytical Chemistry 79:8367-8375. 2007.

15. Engenheiro E, Saraiva J, Carreira I, Ramos L, Ropers HH, Silva E, Tommerup N, Tümer Z. Cytogenetically invisible microdeletions Involving PITX2 in Rieger Syndrome. Clinical Genetics 72:464-470. 2007.

16. Assereto S, van Diggelen O P, Diogo Luisa, Morava E, Cassandrini D, Carreira I,de Boode W-P, Dilling J, Garcia P, Henriques M, Rebelo O, ter Laak H, Minetti C, Bruno C. Null mutations and lethal congenital form of glycogen storage disease type IV. Biochemical and Biophysical Research Communications 361(2):445-450.SEP 21. 2007.