Lista de obras - Susana Seixas - Dominio Público Uruguay

A model to infer the pathogenic significance of CDH1 germline missense variants

artículo científico publicado en 2006

A novel alpha-1-antitrypsin r281del variant found in a population sample from the Basque country

artículo científico publicado en 2000

Adaptive Evolution Favoring KLK4 Downregulation in East Asians

artículo científico publicado en 2015

Adaptive evolution and divergence of SERPINB3: a young duplicate in great Apes

artículo científico publicado en 2014

Allele-specific CDH1 downregulation and hereditary diffuse gastric cancer

artículo científico publicado en 2009

Alpha-1 Antitrypsin Deficiency Detection in a Portuguese Population.

artículo científico publicado en 2018

Alpha-1 antitrypsin deficiency caused by a novel mutation (p.Leu263Pro): Pi*ZQ0gaia - Q0gaia allele

scientific article published on 14 August 2015

Alpha-1-antitrypsin (SERPINA1) mutation spectrum: Three novel variants and haplotype characterization of rare deficiency alleles identified in Portugal

artículo científico publicado en 2016

Bronchoalveolar Lavage Proteomics in Patients with Suspected Lung Cancer

artículo científico publicado en 2017

Characterization of microbiota in male infertility cases uncovers differences in seminal hyperviscosity and oligoasthenoteratozoospermia possibly correlated with increased prevalence of infectious bacteria.

artículo científico publicado en 2018

Common coding variant in SERPINA1 increases the risk for large artery stroke

artículo científico publicado en 2017

Distinctive patterns of evolution of the δ-globin gene (HBD) in primates

artículo científico publicado en 2015

E-cadherin signal sequence disruption: a novel mechanism underlying hereditary cancer

artículo científico publicado en 2018

Evaluation of Male Fertility-Associated Loci in a European Population of Patients with Severe Spermatogenic Impairment

artículo científico publicado en 2020

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

artículo científico publicado en 2013

Genes from the TAS1R and TAS2R Families of Taste Receptors: Looking for Signatures of Their Adaptive Role in Human Evolution.

artículo científico publicado en 2018

Hereditary Gastric and Breast Cancer Syndromes Related to CDH1 Germline Mutation: A Multidisciplinary Clinical Review

scientific article published on 17 June 2020

Infection-associated FUT2 (Fucosyltransferase 2) genetic variation and impact on functionality assessed by in vivo studies.

artículo científico publicado en 2009

Influence of apolipoprotein e polymorphism on cardiovascular risk factors in obese children

artículo científico publicado en 2003

Is the Proteome of Bronchoalveolar Lavage Extracellular Vesicles a Marker of Advanced Lung Cancer?

artículo científico publicado en 2020

Lobar brain hemorrhages and white matter changes: Clinical, radiological and laboratorial profiles.

artículo científico publicado en 2006

Loss and gain of function in SERPINB11: an example of a gene under selection on standing variation, with implications for host-pathogen interactions

artículo científico publicado en 2012

Microsatellite variation and evolution of human lactase persistence

artículo científico publicado en 2005

Portuguese consensus document for the management of alpha-1-antitrypsin deficiency

artículo científico publicado en 2018

Profiling of lung microbiota discloses differences in adenocarcinoma and squamous cell carcinoma

artículo científico publicado en 2019

Pulmonary Emphysema in a Child With Alpha-1 Antitrypsin Deficiency: Evaluation of 2 Years of Intravenous Augmentation Therapy

scientific article published on 11 March 2019

Rare double sex and mab-3-related transcription factor 1 regulatory variants in severe spermatogenic failure

artículo científico publicado en 2015

Reproduction and immunity-driven natural selection in the human WFDC locus

artículo científico publicado en 2013

SERPINA2 is a novel gene with a divergent function from SERPINA1

artículo científico publicado en 2013

Semen quality is affected by HLA class I alleles together with sexually transmitted diseases

scientific article published on 19 April 2019

Sequence diversity at the proximal 14q32.1 SERPIN subcluster: evidence for natural selection favoring the pseudogenization of SERPINA2.

artículo científico publicado en 2006

Sequence diversity of Pan troglodytes subspecies and the impact of WFDC6 selective constraints in reproductive immunity

artículo científico publicado en 2013

Sequence variation at KLK and WFDC clusters and its association to semen hyperviscosity and other male infertility phenotypes

artículo científico publicado en 2016

Severe α-1 antitrypsin deficiency caused by Q0(Ourém) allele: clinical features, haplotype characterization and history

scientific article published on 25 April 2011

The mutational spectrum of WT1 in male infertility.

artículo científico publicado en 2014

alpha1-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

scientific article published on 01 August 2002

Lista de obras de Susana Seixas

A model to infer the pathogenic significance of CDH1 germline missense variants

A novel alpha-1-antitrypsin r281del variant found in a population sample from the Basque country

Adaptive Evolution Favoring KLK4 Downregulation in East Asians

Adaptive evolution and divergence of SERPINB3: a young duplicate in great Apes

Allele-specific CDH1 downregulation and hereditary diffuse gastric cancer

Alpha-1 Antitrypsin Deficiency Detection in a Portuguese Population.

Alpha-1 antitrypsin deficiency caused by a novel mutation (p.Leu263Pro): Pi*ZQ0gaia - Q0gaia allele

Alpha-1-antitrypsin (SERPINA1) mutation spectrum: Three novel variants and haplotype characterization of rare deficiency alleles identified in Portugal

Bronchoalveolar Lavage Proteomics in Patients with Suspected Lung Cancer

Characterization of microbiota in male infertility cases uncovers differences in seminal hyperviscosity and oligoasthenoteratozoospermia possibly correlated with increased prevalence of infectious bacteria.

Common coding variant in SERPINA1 increases the risk for large artery stroke

Distinctive patterns of evolution of the δ-globin gene (HBD) in primates

E-cadherin signal sequence disruption: a novel mechanism underlying hereditary cancer

Evaluation of Male Fertility-Associated Loci in a European Population of Patients with Severe Spermatogenic Impairment

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

Genes from the TAS1R and TAS2R Families of Taste Receptors: Looking for Signatures of Their Adaptive Role in Human Evolution.

Hereditary Gastric and Breast Cancer Syndromes Related to CDH1 Germline Mutation: A Multidisciplinary Clinical Review

Infection-associated FUT2 (Fucosyltransferase 2) genetic variation and impact on functionality assessed by in vivo studies.

Influence of apolipoprotein e polymorphism on cardiovascular risk factors in obese children

Is the Proteome of Bronchoalveolar Lavage Extracellular Vesicles a Marker of Advanced Lung Cancer?

Lobar brain hemorrhages and white matter changes: Clinical, radiological and laboratorial profiles.

Loss and gain of function in SERPINB11: an example of a gene under selection on standing variation, with implications for host-pathogen interactions

Microsatellite variation and evolution of human lactase persistence

Portuguese consensus document for the management of alpha-1-antitrypsin deficiency

Profiling of lung microbiota discloses differences in adenocarcinoma and squamous cell carcinoma

Pulmonary Emphysema in a Child With Alpha-1 Antitrypsin Deficiency: Evaluation of 2 Years of Intravenous Augmentation Therapy

Rare double sex and mab-3-related transcription factor 1 regulatory variants in severe spermatogenic failure

Reproduction and immunity-driven natural selection in the human WFDC locus

SERPINA2 is a novel gene with a divergent function from SERPINA1

Semen quality is affected by HLA class I alleles together with sexually transmitted diseases

Sequence diversity at the proximal 14q32.1 SERPIN subcluster: evidence for natural selection favoring the pseudogenization of SERPINA2.

Sequence diversity of Pan troglodytes subspecies and the impact of WFDC6 selective constraints in reproductive immunity

Sequence variation at KLK and WFDC clusters and its association to semen hyperviscosity and other male infertility phenotypes

Severe α-1 antitrypsin deficiency caused by Q0(Ourém) allele: clinical features, haplotype characterization and history

The mutational spectrum of WT1 in male infertility.

alpha1-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