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Susana Seixas
Susana Seixas
IPATIMUP
Adresse e-mail validée de ipatimup.pt
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Microsatellite variation and evolution of human lactase persistence
M Coelho, D Luiselli, G Bertorelle, AI Lopes, S Seixas, G Destro-Bisol, ...
Human genetics 117, 329-339, 2005
1842005
Allele-specific CDH1 downregulation and hereditary diffuse gastric cancer
H Pinheiro, R Bordeira-Carrico, S Seixas, J Carvalho, J Senz, P Oliveira, ...
Human molecular genetics 19 (5), 943-952, 2010
1142010
Profiling of lung microbiota discloses differences in adenocarcinoma and squamous cell carcinoma
S Gomes, B Cavadas, JC Ferreira, PI Marques, C Monteiro, M Sucena, ...
Scientific reports 9 (1), 12838, 2019
922019
Characterization of microbiota in male infertility cases uncovers differences in seminal hyperviscosity and oligoasthenoteratozoospermia possibly correlated with increased …
C Monteiro, PI Marques, B Cavadas, I Damião, V Almeida, N Barros, ...
American journal of reproductive immunology 79 (6), e12838, 2018
892018
A model to infer the pathogenic significance of CDH1 germline missense variants
G Suriano, S Seixas, J Rocha, R Seruca
Journal of molecular medicine 84, 1023-1031, 2006
862006
Patterns of haplotype diversity within the serpin gene cluster at 14q32. 1: insights into the natural history of the α1-antitrypsin polymorphism
S Seixas, O Garcia, JM Trovoada, TM Santos, A Amorim, J Rocha
Human genetics 108, 20-30, 2001
762001
Known Mutations at the Cause of Alpha-1 Antitrypsin Deficiency an Updated Overview of SERPINA1 Variation Spectrum
S Seixas, PI Marques
The application of clinical genetics, 173-194, 2021
732021
Alpha-1-antitrypsin (SERPINA1) mutation spectrum: three novel variants and haplotype characterization of rare deficiency alleles identified in Portugal
D Silva, MJ Oliveira, M Guimaraes, R Lima, S Gomes, S Seixas
Respiratory Medicine 116, 8-18, 2016
702016
The peopling of Sao Tome (Gulf of Guinea): origins of slave settlers and admixture with the Portuguese
G Tomás, L Seco, S Seixas, P Faustino, J Lavinha, J Rocha
Human Biology, 397-411, 2002
622002
Common coding variant in SERPINA1 increases the risk for large artery stroke
R Malik, T Dau, M Gonik, A Sivakumar, DJ Deredge, EV Edeleva, ...
Proceedings of the National Academy of Sciences 114 (14), 3613-3618, 2017
512017
A de novo paradigm for male infertility
SE Oud MS, Smits RM, Smith HE, Mastrorosa FK, Holt GS, Houston BJ, de Vries ...
Nat Commun. 13, 154, 2022
462022
Bronchoalveolar lavage proteomics in patients with suspected lung cancer
AS Carvalho, CM Cuco, C Lavareda, F Miguel, M Ventura, S Almeida, ...
Scientific reports 7 (1), 42190, 2017
462017
Lobar brain hemorrhages and white matter changes: Clinical, radiological and laboratorial profiles
LF Maia, C Vasconcelos, S Seixas, R Magalhães, M Correia
Cerebrovascular diseases 22 (2-3), 155-161, 2006
452006
Influence of apolipoprotein e polymorphism on cardiovascular risk factors in obese children
A Guerra, C Rego, EMB Castro, S Seixas, J Rocha
Annals of nutrition and metabolism 47 (2), 49-54, 2003
432003
Hereditary gastric and breast cancer syndromes related to CDH1 germline mutation: a multidisciplinary clinical review
G Corso, G Montagna, J Figueiredo, C La Vecchia, U Fumagalli Romario, ...
Cancers 12 (6), 1598, 2020
412020
α1‐Antitrypsin null alleles: evidence for the recurrence of the L353fsX376 mutation and a novel G→ A transition in position+ 1 of intron IC affecting normal mRNA splicing
S Seixas, C Mendonça, F Costa, J Rocha
Clinical genetics 62 (2), 175-180, 2002
382002
Haplotype analysis of the apolipoprotein E and apolipoprotein C1 loci in Portugal and Sao Tome e Principe (Gulf of Guinea): linkage disequilibrium evidence that APOE* 4 is the …
S Seixas, MJ Trovoada, J Rocha
Human biology, 1001-1008, 1999
381999
Portuguese consensus document for the management of alpha-1-antitrypsin deficiency
AP Lopes, MA Mineiro, F Costa, J Gomes, C Santos, C Antunes, D Maia, ...
Pulmonology 24, 1-21, 2018
362018
Infection-associated FUT2 (Fucosyltransferase 2) genetic variation and impact on functionality assessed by in vivo studies
LM Silva, AS Carvalho, P Guillon, S Seixas, M Azevedo, R Almeida, ...
Glycoconjugate journal 27, 61-68, 2010
362010
Microsatellite variation and evolution of the human Duffy blood group polymorphism
S Seixas, N Ferrand, J Rocha
Molecular biology and evolution 19 (10), 1802-1806, 2002
342002
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