about
SERPINA2 is a novel gene with a divergent function from SERPINA1Microsatellite variation and evolution of human lactase persistenceCommon coding variant in SERPINA1 increases the risk for large artery stroke.Allele-specific CDH1 downregulation and hereditary diffuse gastric cancer.Adaptive evolution and divergence of SERPINB3: a young duplicate in great Apes.Loss and gain of function in SERPINB11: an example of a gene under selection on standing variation, with implications for host-pathogen interactions.Sequence diversity at the proximal 14q32.1 SERPIN subcluster: evidence for natural selection favoring the pseudogenization of SERPINA2.Distinctive patterns of evolution of the δ-globin gene (HBD) in primatesReproduction and immunity-driven natural selection in the human WFDC locus.Rare double sex and mab-3-related transcription factor 1 regulatory variants in severe spermatogenic failure.Evolutionary constraints in the β-globin cluster: the signature of purifying selection at the δ-globin (HBD) locus and its role in developmental gene regulation.Sequence diversity of Pan troglodytes subspecies and the impact of WFDC6 selective constraints in reproductive immunityBronchoalveolar Lavage Proteomics in Patients with Suspected Lung CancerSequence variation at KLK and WFDC clusters and its association to semen hyperviscosity and other male infertility phenotypes.Influence of apolipoprotein e polymorphism on cardiovascular risk factors in obese children.The mutational spectrum of WT1 in male infertility.Alpha-1 Antitrypsin Deficiency Detection in a Portuguese Population.Lobar brain hemorrhages and white matter changes: Clinical, radiological and laboratorial profiles.Alpha-1-antitrypsin (SERPINA1) mutation spectrum: Three novel variants and haplotype characterization of rare deficiency alleles identified in Portugal.Characterization of microbiota in male infertility cases uncovers differences in seminal hyperviscosity and oligoasthenoteratozoospermia possibly correlated with increased prevalence of infectious bacteria.Infection-associated FUT2 (Fucosyltransferase 2) genetic variation and impact on functionality assessed by in vivo studies.Genes from the TAS1R and TAS2R Families of Taste Receptors: Looking for Signatures of Their Adaptive Role in Human Evolution.Adaptive Evolution Favoring KLK4 Downregulation in East Asians.E-cadherin signal sequence disruption: a novel mechanism underlying hereditary cancerA model to infer the pathogenic significance of CDH1 germline missense variantsalpha1-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 splicingSevere α-1 antitrypsin deficiency caused by Q0(Ourém) allele: clinical features, haplotype characterization and historyAlpha-1 antitrypsin deficiency caused by a novel mutation (p.Leu263Pro): Pi*ZQ0gaia - Q0gaia alleleSemen quality is affected by HLA class I alleles together with sexually transmitted diseasesPulmonary Emphysema in a Child With Alpha-1 Antitrypsin Deficiency: Evaluation of 2 Years of Intravenous Augmentation TherapyProfiling of lung microbiota discloses differences in adenocarcinoma and squamous cell carcinomaPortuguese consensus document for the management of alpha-1-antitrypsin deficiencyHereditary Gastric and Breast Cancer Syndromes Related to CDH1 Germline Mutation: A Multidisciplinary Clinical Review
P50
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P50
description
hulumtuese
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Susana Seixas
@ast
Susana Seixas
@en
Susana Seixas
@es
Susana Seixas
@nl
Susana Seixas
@sl
type
label
Susana Seixas
@ast
Susana Seixas
@en
Susana Seixas
@es
Susana Seixas
@nl
Susana Seixas
@sl
prefLabel
Susana Seixas
@ast
Susana Seixas
@en
Susana Seixas
@es
Susana Seixas
@nl
Susana Seixas
@sl
P1053
I-5084-2013
P106
P1153
6602992150
P21
P2798
P31
P3829
P496
0000-0002-7035-7422