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Identification

Personal identification

Full name
Susana Maria Gouveia Fernandes

Citation names

  • Fernandes, Susana

Author identifiers

Ciência ID
831A-0552-4622
ORCID iD
0000-0003-1128-833X
Education
Degree Classification
2016/05/31 - 2021/05
Ongoing
 European Clinical Laboratory Geneticist (Título de especialista)
Major in Genética laboratorial
European Board of Medical Genetics, Portugal
2000/01 - 2003/11/26
Concluded
 Biologia Humana (Doutoramento)
Major in Genética da infertilidade
Universidade do Porto Faculdade de Medicina, Portugal
"Molecular analysis of the structural and functional complexity of the human AZFc male fertility locus in distal Yq11" (THESIS/DISSERTATION)
 Aprovação por unanimidade
1992/02 - 1995/11/10
Concluded
 Mestrado em Biologia Celular (Mestrado)
Major in Virologia molecular
Universidade de Coimbra Faculdade de Ciencias e Tecnologia, Portugal
"Estudo do ADN e do ARN em Virologia (CMV e HCV)" (THESIS/DISSERTATION)
 Muito Bom
1986/10 - 1991/12/19
Concluded
 Bioquímica (Licenciatura)
Universidade de Coimbra Faculdade de Ciencias e Tecnologia, Portugal
"Estudo do ADN do HBV em portadores crónicos" (THESIS/DISSERTATION)
 13 Valores
Affiliation

Teaching in Higher Education

Category
Host institution 		Employer
2016/10/08 - 2027/03/20 Tutor (University Teacher) Universidade do Porto Faculdade de Medicina, Portugal
Universidade do Porto Faculdade de Medicina, Portugal
2007/03/21 - 2016/10/06 Tutor (University Teacher) Universidade do Porto Faculdade de Medicina, Portugal

Other Careers

Category
Host institution 		Employer
2009/01/01 - Current Técnico Superior (Técnico Superior) Universidade do Porto Faculdade de Medicina, Portugal
Universidade do Porto Faculdade de Medicina, Portugal
2004/04/08 - 2008/11/11 Técnico Superior (Técnico Superior) Universidade do Porto Faculdade de Medicina, Portugal
2000/01/14 - 2004/04/13 Técnico Superior (Técnico Superior) Universidade do Porto Faculdade de Medicina, Portugal
1998/06/01 - 2000/01/14 Técnico Superior (Técnico Superior) Universidade do Porto Faculdade de Medicina, Portugal

Positions / Appointments

Category
Host institution 		Employer
2020/01/02 - Current Manager of Laboratory, Institute, Museum, Centre or Observatory Universidade do Porto Faculdade de Medicina, Portugal
Universidade do Porto Faculdade de Medicina, Portugal
Projects

Contract

Designation Funders
2011/01/01 - Current MaxBone - Maxillofacial Reconstruction using regenerative therapies: from Stem Cells to pre-Clinical Trials
info:eu-repo/grantAgreement/FCT/5876-PPCDTI/115179/PT
Other
Universidade do Algarve Faculdade de Ciências e Tecnologia
2004 - Current Genomic Imprinting in human spermatogenesis
info:eu-repo/grantAgreement/FCT/3599-PPCDT/82228/PT
Other
Concluded
2004 - Current Padrões de expressão génica em células germinais masculinas específicas de estadio utilizando a tecnologia de microarrays
POCI/SAU-MMO/60709/2004
Other
2001 - Current Espermatogénese in vitro. Caracterização de receptores de superfície e da expressão genética durante as fases de proliferação, meiose e diferenciação
POCTI/BME/43462/2001
Other
Concluded
1999 - Current Haplotype analysis of Yq11.2 as related to specific spermatogenic stages
FCT- Sapiens 36363/99
Other
Concluded
2023/01/01 - 2025/12/31 Preventable
Código do Projeto: 101057825
Other
Ongoing
Outputs

Publications

Book chapter
  1. Moura, Carla Pinto; Fernandes, Susana; Monteiro, Luísa. "Genética da Surdez". In Audiologia, Som e Audição - Das Bases à Clínica, edited by Monteiro, Luísa; Subtil, João, 87-95. Portugal: Círculo Médico, 2018.
    Published
  2. Fernandes, Susana; Sousa, Mário; Barros, Alberto. "Os genes e o homem infértil.". In Tratado de Andrologia Clínica, 195-222. Portugal: Sociedade Portuguesa de Andrologia, 2000.
    Published
Journal article
  1. Vasconcelos, Alice P.; Nogueira, Ana; Matos, Pedro; Pinto, Joel; Pinho, Maria João; Fernandes, Susana; Dória, Sofia; Pinto Moura, Carla. "Severe KIDAR syndrome caused by deletion in the AP1B1 gene: Report of a teenage patient and systematic review of the literature". European Journal of Medical Genetics 66 10 (2023): 104827. http://dx.doi.org/10.1016/j.ejmg.2023.104827.
    10.1016/j.ejmg.2023.104827
  2. Gonçalves, Francisco; Lisboa-Gonçalves, Pedro; Quental, Rita; Fernandes, Susana; Quental, Sofia; Michel-Calemard, Laurence; Goursaud, Claire; et al. "Familial juvenile hyperuricemic nephropathy: Revisiting the SLC8A1 gene, in a family with a novel terminal gross deletion in the UMOD gene". Nefrología (2023): http://dx.doi.org/10.1016/j.nefro.2023.09.007.
    10.1016/j.nefro.2023.09.007
  3. da Costa, Catarina Martins; Amador, Ana Filipa; Calvão, João; Vasconcelos Porto, Alice; Fernandes, Susana; Martins, Elisabete; Macedo, Filipe. "First description of Portuguese patients with cardiac amyloidosis and p.Val142Ile: more evidence of an African variant in Caucasians". Scandinavian Cardiovascular Journal 57 1 (2023): http://dx.doi.org/10.1080/14017431.2023.2197183.
    10.1080/14017431.2023.2197183
  4. Cláudia Sousa Reis; Sofia Quental; Susana Fernandes; Sérgio Castedo; Carla Pinto Moura. "Whole-Exome Sequencing Targeting a Gene Panel for Sensorineural Hearing Loss: The First Portuguese Cohort Study". Cytogenetic and Genome Research 162 1-2 (2022): 1-9. https://doi.org/10.1159/000523840.
    10.1159/000523840
  5. Rita Barbosa-Matos; Leal Silva R.; Luzia Garrido; Ana Cerqueira Aguiar; José García-Peláez; Ana André; Susana Seixas; et al. "The CDH1 c.1901C>T Variant: A Founder Variant in the Portuguese Population with Severe Impact in mRNA Splicing". Cancers (2021): https://www.mdpi.com/2072-6694/13/17/4464.
    10.3390/cancers13174464
  6. Cláudia Sousa Reis; Ana Cristina Santos; Henrique Barros; Susana Fernandes; Carla Pinto Moura. "GJB2: Frequency of the Less Common Variants in a Sample of the Portuguese Population". Acta Médica Portuguesa (2021): https://doi.org/10.20344/amp.13781.
    10.20344/amp.13781
  7. Esteves-Leandro, João; Torres-Costa, Sónia; Estrela-Silva, Sérgio; Santos-Silva, Renato; Brandão, Elisete; Grangeia, Ana; Fernandes, Susana; et al. "Cone dystrophy with supernormal rod responses: A rare KCNV2 gene variant". European Journal of Ophthalmology 32 1 (2021): 664-672. http://dx.doi.org/10.1177/11206721211000000.
    10.1177/11206721211000000
  8. A. Pinho; A. Barros; S. Fernandes. "Clinical and molecular characterization of Y microdeletions and X-linked CNV 67 implications in male fertility: a 20-year experience". Andrology (2020): https://doi.org/10.1111/andr.12686.
    10.1111/andr.12686
  9. Castro-Ferreira I; Carmo R; Silva SE; Corrêa O; Fernandes, Susana; SAMPAIO, S.; Pedro RP; Praça A; Oliveira JP. "Novel Missense LCAT Gene Mutation Associated with an Atypical Phenotype of Familial LCAT Deficiency in Two Portuguese Brothers.JIMD Rep. 2018;40:55-62. doi:". 40 (2017): 55-62.
    Published • doi:10.1007/8904_2017_57
  10. P. I. Marques; S. Fernandes; F. Carvalho; A. Barros; M. Sousa; C. J. Marques. "DNA methylation imprinting errors in spermatogenic cells from maturation arrest azoospermic patients". Andrology 5 3 (2017): 451-459. https://doi.org/10.1111/andr.12329.
    10.1111/andr.12329
  11. Costa, Catarina; Pinho MJ; Barros, Alberto; Fernandes, Susana. "Emerging genetic alterations linked to male infertility: X-chromosome Copy Number Variation and Spermatogenesis regulatory genes´expression.". Annals of Reproductive Medicine and Treatment 2 1 (2017): 1008.
    Published
  12. Sousa, Mário; Gonçalves, Carolina; Cunha, Mariana; Rocha, Eduardo; Fernandes, Susana; Silva, Joaquina; Ferraz, Luís; Oliveira, Cristiano; Barros, Alberto. "Y-chromosome microdeletions in nonobstructive azoospermia and severe oligozoospermia". Asian Journal of Andrology 19 3 (2017): 338. http://dx.doi.org/10.4103/1008-682x.172827.
    Published • 10.4103/1008-682x.172827
  13. Rocha, Helena; Sampaio, Mafalda; Rocha, Ruben; Fernandes, Susana; Leão, Miguel. "MEF2C haploinsufficiency syndrome: Report of a new MEF2C mutation and review". European Journal of Medical Genetics 59 9 (2016): 478-482. http://dx.doi.org/10.1016/j.ejmg.2016.05.017.
    Published • 10.1016/j.ejmg.2016.05.017
  14. Cerejeira, Rui; Fernandes, Susana; Pinto Moura, Carla. "Increased expression of a7nAChR in chronic rhinosinusitis: The intranasal cholinergic anti-inflammatory hypothesis". Auris Nasus Larynx 43 2 (2016): 176-181. http://dx.doi.org/10.1016/j.anl.2015.08.011.
    Published • 10.1016/j.anl.2015.08.011
  15. Dória, Mariana; Fernandes, Susana; Moura, Carla Pinto. "Study of Met34Thr variant in nonsyndromic hearing loss in four Portuguese families". Porto Biomedical Journal 1 1 (2016): 32-35. http://dx.doi.org/10.1016/j.pbj.2015.07.001.
    10.1016/j.pbj.2015.07.001
  16. C, Lopes; L, Rocha; O, Sokhatska; J, Soares; F, Tavaria; O, Correia; M, Pintado; et al. "Filaggrin Polymorphism Pro478Ser Is Associated With the Severity of Atopic Dermatitis and Colonization by Staphylococcal aureus". Journal of Investigational Allergology and Clinical Immunology 26 1 (2016): 48-72. http://dx.doi.org/10.18176/jiaci.0017.
    10.18176/jiaci.0017
  17. Dória, Mariana; Neto, Ana Paula; Santos, Ana Cristina; Barros, Henrique; Fernandes, Susana; Moura, Carla Pinto. "Prevalence of 35delG and Met34Thr GJB2 variants in Portuguese samples". International Journal of Pediatric Otorhinolaryngology 79 12 (2015): 2187-2190. http://dx.doi.org/10.1016/j.ijporl.2015.09.046.
    10.1016/j.ijporl.2015.09.046
  18. Fernandes, Susana; Lima AC, Carvalho F, Gonçalves J, Fernandes S, Marques PI, Sousa M, Barros A, Seixas S, Amorim A, Conrad DF, Lopes AM. "Rare double sex and mab-3-related transcription factor 1 regulatory variants in severe spermatogenic failure". Andrology 3 5 (2015): 825-833.
    10.1111/andr.12063
  19. Seabra, Catarina M.; Quental, Sofia; Lima, Ana C.; Carvalho, Filipa; Gonçalves, João; Fernandes, Susana; Pereira, Iris; et al. "The Mutational Spectrum of WT1 in Male Infertility". Journal of Urology 193 5 (2015): 1709-1715. http://dx.doi.org/10.1016/j.juro.2014.11.004.
    10.1016/j.juro.2014.11.004
  20. Lau, Eva; Carvalho, Davide; Oliveira, Joana; Fernandes, Susana; Freitas, Paula. "Familial partial lipodystrophy type 3: a new mutation on the PPARG gene.". HORMONES 14 2 (2015): 317-320. http://dx.doi.org/10.14310/horm.2002.1585.
    Published • 10.14310/horm.2002.1585
  21. Fernandes, A.; Guedes, M.; Vasconcelos, J.; Neves, E.; Fernandes, S.; Marques, L.. "X-linked agammaglobulinemia: Experience in a Portuguese hospital". Anales de Pediatría (English Edition) 82 3 (2015): 166-171. http://dx.doi.org/10.1016/j.anpede.2014.08.005.
    10.1016/j.anpede.2014.08.005
  22. Fernandes, A.; Guedes, M.; Vasconcelos, J.; Neves, E.; Fernandes, S.; Marques, L.. "Agammaglobulinemia ligada al cromosoma X: experiencia en un hospital portugués". Anales de Pediatría 82 3 (2015): 166-171. http://dx.doi.org/10.1016/j.anpedi.2014.08.013.
    10.1016/j.anpedi.2014.08.013
  23. Passas, Armanda; Rocha, Carla; Figueiredo, Rita; Mendes-Ribeiro, Jose; Fernandes, Susana; Biskup, Saskia; Leão, Miguel; Santos-Silva, Rita. "Bilateral Frontoparietal Polymicrogyria: A Novel GPR56 Mutation and an Unusual Phenotype". Neuropediatrics 46 02 (2015): 134-138. http://dx.doi.org/10.1055/s-0034-1399754.
    Published • 10.1055/s-0034-1399754
  24. Rocha, Liliana; Lopes, Cristina; Fernandes, Susana; Sokhatska, Oksana; Soares, Jose; Tavaria, Freni; Pintado, Manuela; Moreira, Andre M.; Delgado, Luis. "Filaggrin Gene Polymorphism Pro478Ser, but Not Loss-of-Function Mutations Mp.Arg501Ter or C.2282del4, Relates with Atopic Dermatitis Severity and Increased Staphylococcal aureus Colonization in Adult Patients". Journal of Allergy and Clinical Immunology 135 2 (2015): AB260. http://dx.doi.org/10.1016/j.jaci.2014.12.1791.
    10.1016/j.jaci.2014.12.1791
  25. Seabra, Catarina M; Quental, Sofia; Neto, Ana Paula; Carvalho, Filipa; Gonçalves, João; Oliveira, João Paulo; Fernandes, Susana; et al. "A novel Alu-mediated microdeletion at 11p13 removes WT1 in a patient with cryptorchidism and azoospermia". Reproductive BioMedicine Online 29 3 (2014): 388-391. http://dx.doi.org/10.1016/j.rbmo.2014.04.017.
    10.1016/j.rbmo.2014.04.017
  26. Flor-de-Lima, Filipa; Sampaio, Mafalda; Nahavandi, Nahid; Fernandes, Susana; Leão, Miguel. "Alsin Related Disorders: Literature Review and Case Study with Novel Mutations". Case Reports in Genetics 2014 (2014): 1-5. http://dx.doi.org/10.1155/2014/691515.
    10.1155/2014/691515
  27. Miranda, J.; Rocha, G.; Soares, P.; Morgado, H.; Baptista, M.J.; Azevedo, I.; Fernandes, S.; et al. "A novel mutation in FOXF1 gene associated with alveolar capillary dysplasia with misalignment of pulmonary veins, intestinal malrotation and annular pancreas". Neonatology 103 4 (2013): 241-245. http://www.scopus.com/inward/record.url?eid=2-s2.0-84873594856&partnerID=MN8TOARS.
    10.1159/000346062
  28. Sen, P.; Yang, Y.; Navarro, C.; Silva, I.; Szafranski, P.; Kolodziejska, K.E.; Dharmadhikari, A.V.; et al. "Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain". Human Mutation 34 6 (2013): 801-811. http://www.scopus.com/inward/record.url?eid=2-s2.0-84878146978&partnerID=MN8TOARS.
    10.1002/humu.22313
  29. Costa, J.L.; Sousa, S.; Justino, A.; Kay, T.; Fernandes, S.; Cirnes, L.; Schmitt, F.; Machado, J.C.. "Nonoptical Massive Parallel DNA Sequencing of BRCA1 and BRCA2 Genes in a Diagnostic Setting". Human Mutation 34 4 (2013): 629-635. http://www.scopus.com/inward/record.url?eid=2-s2.0-84875519657&partnerID=MN8TOARS.
    10.1002/humu.22272
  30. Lopes, A.M.; Aston, K.I.; Thompson, E.; Carvalho, F.; Gonçalves, J.; Huang, N.; Matthiesen, R.; et al. "Human Spermatogenic Failure Purges Deleterious Mutation Load from the Autosomes and Both Sex Chromosomes, including the Gene DMRT1". PLoS Genetics 9 3 (2013): http://www.scopus.com/inward/record.url?eid=2-s2.0-84875985784&partnerID=MN8TOARS.
    10.1371/journal.pgen.1003349
  31. Fernandes, Susana; Ventura Vânia; Dória, Sofia; Barros, Alberto. "Y-Chromosome Detection in Turner Syndrome". Human Genetics & Embryology 03 03 (2013): http://dx.doi.org/10.4172/2161-0436.1000115.
    10.4172/2161-0436.1000115
  32. Soares, A.R.; Costa, P.; Silva, J.; Sousa, M.; Barros, A.; Fernandes, S.. "AZFb microdeletions and oligozoospermia - Which mechanisms?". Fertility and Sterility 97 4 (2012): 858-863. http://www.scopus.com/inward/record.url?eid=2-s2.0-84859160735&partnerID=MN8TOARS.
    10.1016/j.fertnstert.2012.01.099
  33. Ferrás, C.; Fernandes, S.; Silva, J.; Barros, A.; Sousa, M.. "Expression analysis of MLH3, MLH1, and MSH4 in maturation arrest". Reproductive Sciences 19 6 (2012): 587-596. http://www.scopus.com/inward/record.url?eid=2-s2.0-84862834986&partnerID=MN8TOARS.
    10.1177/1933719111428521
  34. Caridi, G.; Dagnino, M.; Di Duca, M.; Pinto, H.; Espinheira, M.D.C.; Guerra, A.; Fernandes, S.; et al. "A novel splicing mutation causes analbuminemia in a Portuguese boy". Molecular Genetics and Metabolism 105 3 (2012): 479-483. http://www.scopus.com/inward/record.url?eid=2-s2.0-84858280689&partnerID=MN8TOARS.
    10.1016/j.ymgme.2011.12.009
  35. Dória, S.; Sousa, M.; Fernandes, S.; Ramalho, C.; Brandão, O.; Matias, A.; Barros, A.; Carvalho, F.. "Gene expression pattern of IGF2, PHLDA2, PEG10 and CDKN1C imprinted genes in spontaneous miscarriages or foetal deaths". Epigenetics 5 5 (2010): 444-450. http://www.scopus.com/inward/record.url?eid=2-s2.0-77954680732&partnerID=MN8TOARS.
  36. Marques, C.J.; Pignatelli, D.; Carvalho, B.; Barceló, J.; Almeida, A.C.; Fernandes, S.; Witchel, S.F.; et al. "Mutational characterization of steroid 21-hydroxylase gene in portuguese patients with congenital adrenal hyperplasia". Experimental and Clinical Endocrinology and Diabetes 118 8 (2010): 505-512. http://www.scopus.com/inward/record.url?eid=2-s2.0-77956965063&partnerID=MN8TOARS.
    10.1055/s-0029-1237363
  37. Marques, C.J.; Costa, P.; Vaz, B.; Carvalho, F.; Fernandes, S.; Barros, A.; Sousa, M.. "Abnormal methylation of imprinted genes in human sperm is associated with oligozoospermia". Molecular Human Reproduction 14 2 (2008): 67-73. http://www.scopus.com/inward/record.url?eid=2-s2.0-40049100483&partnerID=MN8TOARS.
    Published • 10.1093/molehr/gam093
  38. Costa, P.; Gonçalves, R.; Ferrás, C.; Fernandes, S.; Fernandes, A.T.; Sousa, M.; Barros, A.. "Identification of new breakpoints in AZFb and AZFc". Molecular Human Reproduction 14 4 (2008): 251-258. http://www.scopus.com/inward/record.url?eid=2-s2.0-43049114970&partnerID=MN8TOARS.
    Published • 10.1093/molehr/gan014
  39. Sá, R.; Neves, R.; Fernandes, S.; Alves, C.; Carvalho, F.; Silva, J.; Cremades, N.; et al. "Cytological and expression studies and quantitative analysis of the temporal and stage-specific effects of follicle-stimulating hormone and testosterone during cocultures of the normal human seminiferous epithelium". Biology of Reproduction 79 5 (2008): 962-975. http://www.scopus.com/inward/record.url?eid=2-s2.0-55549094848&partnerID=MN8TOARS.
    Published • 10.1095/biolreprod.107.067546
  40. Marques, C.J.; Vaz, B.; Costa, P.; Sousa, S.; Carvalho, F.; Fernandes, S.; Silva, J.; Sousa, M.; Barros, A.. "Heritable genomic imprinting defects in infertile patients with oligozoospermia and azoospermia | Alteração transmissível do imprinting genómico em pacientes inférteis por oligozoospermia e azoospermia". Arquivos de Medicina 21 2 (2007): http://www.scopus.com/inward/record.url?eid=2-s2.0-36348952655&partnerID=MN8TOARS.
  41. Fernandes, A.T.; Fernandes, S.; Gonçalves, R.; Sá, R.; Costa, P.; Rosa, A.; Ferrás, C.; et al. "DAZ gene copies: Evidence of Y chromosome evolution". Molecular Human Reproduction 12 8 (2006): 519-523. http://www.scopus.com/inward/record.url?eid=2-s2.0-33747883864&partnerID=MN8TOARS.
    10.1093/molehr/gal051
  42. Pinho, M.J.; Neves, R.; Costa, P.; Ferrás, C.; Sousa, M.; Alves, C.; Almeida, C.; et al. "Unique t(Y;1)(q12;q12) reciprocal translocation with loss of the heterochromatic region of chromosome 1 in a male with azoospermia due to meiotic arrest: A case report". Human Reproduction 20 3 (2005): 689-696. http://www.scopus.com/inward/record.url?eid=2-s2.0-20144384245&partnerID=MN8TOARS.
    10.1093/humrep/deh653
  43. Marques, C.J.; Fernandes, S.; Carvalho, F.; Silva, J.; Sousa, M.; Barros, A.. "Study of genomic imprinting in spermatozoids from patients with oligozoospermia | Estudo do imprinting genómico em espermatozóides de pacientes com oligozoospermia". Revista Internacional de Andrologia 3 3 (2005): 101-108. http://www.scopus.com/inward/record.url?eid=2-s2.0-77949838778&partnerID=MN8TOARS.
    10.1016/S1698-031X(05)73255-6
  44. Ferrás, C.; Fernandes, S.; Sousa, M.; Barros, A.. "Possible involvement of MLH3, MLH1 & MSH4 genes in prophase I progression in human spermatogenesis | Possível envolvimento dos genes MLH3, MLH1 e MSH4 na Progressão da Profase I na Esperatogénese Humana". Revista Iberoamericana de Fertilidad y Reproduccion Humana 22 1 (2005): 67-74. http://www.scopus.com/inward/record.url?eid=2-s2.0-19644369439&partnerID=MN8TOARS.
  45. Grangeia, A.; Carvalho, F.; Fernandes, S.; Silva, J.; Sousa, M.; Barros, A.. "A novel missense mutation P1290S at exon-20 of the CFTR gene in a Portuguese patient with congenital bilateral absence of the vas deferens". Fertility and Sterility 83 2 (2005): 448-451. http://www.scopus.com/inward/record.url?eid=2-s2.0-13544251608&partnerID=MN8TOARS.
    10.1016/j.fertnstert.2004.07.967
  46. Fernandes, S.; Paracchini, S.; Meyer, L.H.; Floridia, G.; Tyler-Smith, C.; Vogt, P.H.. "A Large AZFc Deletion Removes DAZ3/DAZ4 and Nearby Genes from Men in Y Haplogroup N". American Journal of Human Genetics 74 1 (2004): 180-187. http://www.scopus.com/inward/record.url?eid=2-s2.0-0345742509&partnerID=MN8TOARS.
    Published • 10.1086/381132
  47. Ferrás, C.; Fernandes, S.; Marques, C.J.; Carvalho, F.; Alves, C.; Silva, J.; Sousa, M.. "AZF and DAZ gene copy-specific deletion analysis in maturation arrest and Sertoli cell-only syndrome". Molecular Human Reproduction 10 10 (2004): 755-761. http://www.scopus.com/inward/record.url?eid=2-s2.0-5144233701&partnerID=MN8TOARS.
    10.1093/molehr/gah104
  48. Grangeia, A.; Niel, F.; Carvalho, F.; Fernandes, S.; Ardalan, A.; Girodon, E.; Silva, J.; et al. "Characterization of cystic fibrosis conductance transmembrane regulator gene mutations and IVS8 poly (T) variants in Portuguese patients with congenital absence of the vas deferens". Human Reproduction 19 11 (2004): 2502-2508. http://www.scopus.com/inward/record.url?eid=2-s2.0-8344267489&partnerID=MN8TOARS.
    10.1093/humrep/deh462
  49. Repping, S.; Korver, C.M.; Oates, R.D.; Silber, S.; Van Der Veen, F.; Page, D.C.; Rozen, S.; et al. "Are sequence family variants useful for identifying deletions in the human Y chromosome? [1] (multiple letters)". American Journal of Human Genetics 75 3 (2004): 514-519. http://www.scopus.com/inward/record.url?eid=2-s2.0-4143100211&partnerID=MN8TOARS.
    10.1086/423394
  50. Fernandes, S.; Goncalves, J.; Hullen, K.; Zeisler, J.; Rajpert De Meyts, E.; Skakkebaek, N. E.; Habermann, B.; et al. "Frequent DAZ1/DAZ2 deletions in men with severe oligozoospermia". Andrologia 35 1 (2003): 5-6. http://dx.doi.org/10.1046/j.1439-0272.2003.00531_7.x.
    Published • 10.1046/j.1439-0272.2003.00531_7.x
  51. Vogt, P.H.; Fernandes, S.; Oosterhuis, J.W.; McElreavey, K.; Lothe, R.. "Polymorphic DAZ gene family in polymorphic structure of AZFc locus: Artwork or functional for human spermatogenesis?". APMIS 111 1 (2003): 115-127. http://www.scopus.com/inward/record.url?eid=2-s2.0-0037884920&partnerID=MN8TOARS.
    10.1034/j.1600-0463.2003.11101161.x
  52. Fernandes, Susana; Ferrás C, Carvalho F, Marques CJ, Silva J, Ferrás L, Sousa M, Barros A (2003). "AZFc/DAZ microdeletions in azoospermic patients is a good prognostic factor for the successful retrieval of spermatids/spermatozoa in testicular biopsies.". Proceedings Asociacion Española de Andrologia: 149-150. (2003): 149-150.
  53. Fernandes, S.; Huellen, K.; Goncalves, J.; Dukal, H.; Zeisler, J.; Rajpert De Meyts, E.; Skakkebaek, N.E.; et al. "High frequency of DAZ1/DAZ2 gene deletions in patients with severe oligozoospermia". Molecular Human Reproduction 8 3 (2002): 286-298. http://www.scopus.com/inward/record.url?eid=2-s2.0-18244410193&partnerID=MN8TOARS.
  54. Fernandes, Susana. "Azoospermia secretora: valor clínico de las espermátidas en los tratamientos de infertilidad y maduración in vitro del epitelio seminíferi en casos de parada de la maturación.". Rev Int Androl, Supp 1(1): 1-29. 1 1 (2002): 1-29.
    Published
  55. Kamp, C.; Huellen, K.; Fernandes, S.; Sousa, M.; Schlegel, P.N.; Mielnik, A.; Kleiman, S.; et al. "High deletion frequency of the complete AZFa sequence in men with Sertoli-cell-only syndrome". Molecular Human Reproduction 7 10 (2001): 987-994. http://www.scopus.com/inward/record.url?eid=2-s2.0-0034795056&partnerID=MN8TOARS.
  56. Carvalho, F.; Sousa, M.; Fernandes, S.; Silva, J.; Saraiva, M.J.; Barros, A.. "Preimplantation genetic diagnosis for familial amyloidotic polyneuropathy (FAP)". Prenatal Diagnosis 21 12 (2001): 1093-1099. http://www.scopus.com/inward/record.url?eid=2-s2.0-0035680956&partnerID=MN8TOARS.
    10.1002/pd.250
  57. Sousa, M.; Fernandes, S.; Barros, A.. "Prognostic factors for successful testicle spermatid recover". Molecular and Cellular Endocrinology 166 1 (2000): 37-43. http://www.scopus.com/inward/record.url?eid=2-s2.0-0034662885&partnerID=MN8TOARS.
    10.1016/S0303-7207(00)00295-1
Newspaper article
  1. Vanessa Guerreiro; Irene Bernardes; Josué Pereira; Roberto Pestana Silva; Fernandes, Susana; Davide Carvalho; Paula Freitas. Corresponding author: Vanessa Guerreiro. "Acromegaly with congenital generalized lipodystrophy – two rare insulin resistance conditions in one patient: a case report", J Med Case Rep. 2020; 14: 34., 2020, Published online 2020 Feb 21. doi: 10.1186/s13256-020-2352-9 PMCID: PMC7033930 PMID: 32079542.
Activities

Supervision

Thesis Title
Role 		Degree Subject (Type)
Institution / Organization
2017/01/02 - 2019/05 Clinical and molecular characterization of Y microdeletions and X-linked CNV67 implications in male fertility: a 20-year experience
Supervisor of Ana Isabel Correia de Pinho
 Medicina (Master)
Universidade do Porto Faculdade de Medicina, Portugal
2014/10 - 2017/05 Emerging genetic alterations linked to male infertility: X-chromosome Copy Number Variation and Spermatogenesis regulatory genes’ expression
Supervisor of Catarina Pedrosa Martins da Costa
 Medicina (Master)
Universidade do Porto Faculdade de Medicina, Portugal
2012/10 - 2016/07/25 Modulação Colinérgica da Resposta Inflamatória na Rinossinusite Crónica
Co-supervisor of Rui António Soares Cerejeira
 Medicina (PhD)
Universidade do Porto Faculdade de Medicina, Portugal
2011/10 - 2015/05/15 GJB2 mutations - 35delG an MetThr - in nonsyndromic hearing loss
Co-supervisor of Mariana Dória Príncipe dos Santos
 Medicina (Master)
Universidade do Porto Faculdade de Medicina, Portugal
2012/10 - 2013/06 Caraterização de células estaminais do líquido amniótico (CELA)
Co-supervisor
 Biologia (Degree)
Universidade do Porto Faculdade de Ciências, Portugal
2009/10 - 2013/06 Estudo alargado das microdelecções em AZFb em pacientes oligozoospérmicos.
Co-supervisor of Ana Rita Soares
 Medicina (Master)
Universidade do Porto Faculdade de Medicina, Portugal
2010/10 - 2011/06 Estudo de mutações atípicas no gene NOTCH3.
Co-supervisor of Gonçalo Manuel Teixeira Fernandes
 Biologia (Degree)
Universidade do Porto Faculdade de Ciências, Portugal
2009/10 - 2010/07 Estudo do cromossoma Y na Sindrome de Turner.
Co-supervisor of Vânia Patrícia da Silva Ventura
 Mestrado em Biologia Molecular e Celular (Master)
Universidade de Aveiro Departamento de Biologia, Portugal
2009/10 - 2010/07 Estudo do Promotor do gene GLA (Doença de Fabry.
Co-supervisor
 Biologia (Degree)
Universidade de Aveiro Departamento de Biologia, Portugal
2008/10 - 2010 Caracterização hAFSC
Supervisor
Universidade de Trás-os-Montes e Alto Douro, Portugal
2004/10 - 2006/07 Titulo
Co-supervisor
 Mestrado em Genética Molecular (Master)
Universidade do Minho Departamento de Biologia, Portugal
1995/10 - 1996/07 PCR - Abordagem Teórica e Prática.
Supervisor
 X Curso de Análises Clínicas e Saúde Pública (Degree)
Instituto Politécnico do Porto Escola Superior de Saúde, Portugal

Event organisation

Event name
Type of event (Role) 		Institution / Organization
2012 - Current Reunião anual da SPGH (2012)
Congress (Member of the Scientific Committee)
 Sociedade Portuguesa de Genética Humana, Portugal
2015 - 2015 Reunião anual da SPGH 2015 (2015/11 - 2015/11)
Congress (Co-organisor)
 Sociedade Portuguesa de Genética Humana, Portugal

Jury of academic degree

Topic
Role 		Candidate name (Type of degree)
Institution / Organization
2019/05/28 Clinical and molecular characterization of Y microdeletions and X-linked CNV67 implications in male fertility: a 20-year experience
Supervisor
 Ana Isabel Correia de Pinho (Master)
Universidade do Porto Faculdade de Medicina, Portugal
2017/06/02 Emerging genetic alterations linked to male infertility: X-chromosome Copy Number Variation and Spermatogenesis regulatory genes’ expression
Supervisor
 Catarina Pedrosa Martins da Costa (Master)
Universidade do Porto Faculdade de Medicina, Portugal
2016/05/13 Têxteis funcionais no tratamento da Dermatite atópica
Thesis Member
 Maria Cristina Ramos Machado Lopes Abreu (PhD)
Universidade do Porto Faculdade de Medicina, Portugal
2011/02/21 Apoptosis regulation in the male germinal epithelium
Thesis Member
 Carolina Neves de Sousa e Almeida (PhD)
Universidade do Porto Faculdade de Medicina, Portugal

Legal proceeding

Activity description Case
2020/01/02 - Current Gestor da qualidade para a ISO15189 do Serviço de Genética da FMUP
Distinctions

Other distinction

2018 Best Student Poster
2018 ESHG Best Poster in Clinical Research
2017 Prémio Amândio Tavares
2011 Prof. Ernesto Morais / VI YES MEETING
2011 3rd Prize CIMSC 2011
2009 Prémio Prof. Amândio Tavares
2007 Prize Promega Young Geneticist Award 2007/2008
2006 Prémio de Investigação Básica
2004 Best oral comunication (nomination for the best 10 works)
2004 Best Poster
2004 Best scientific comunication
2003 Prémio Jacinto Magalhães - Melhor Tabalho
Centro de Genética Médica Doutor Jacinto Magalhães, Portugal
2003 Prémio Jovem Investigador
2002 Prémio Organon-Portugal, melhor comunicação científica em Poster
2002 Prémio da Sociedade Portuguesa de Andrologia
2001 Best scientific comunication
2000 Best scientific comunication
1999 Best scientific comunication