Alexandra Martins
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Explore the profile of Alexandra Martins including associated specialties, affiliations and a list of published articles.
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102
Citations
1669
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Recent Articles
1.
Martins A, Barboza L, Vieira L, Botelho M, Vale C, Guilhermino L
Mar Environ Res
. 2025 Jan;
204:106925.
PMID: 39823942
Potential effects of microplastics (MP, plastic particles <5 mm) on the levels of multiple stress biomarkers were investigated in wild fish populations of Cyprinus carpio, Mugil cephalus, Platichthys flesus captured...
2.
Yin X, Richardson M, Laner A, Shi X, Ognedal E, Vasta V, et al.
Am J Hum Genet
. 2024 Oct;
111(11):2427-2443.
PMID: 39357517
Pathogenic constitutional APC variants underlie familial adenomatous polyposis, the most common hereditary gastrointestinal polyposis syndrome. To improve variant classification and resolve the interpretative challenges of variants of uncertain significance (VUSs),...
3.
Parsons M, de la Hoya M, Richardson M, Tudini E, Anderson M, Berkofsky-Fessler W, et al.
Am J Hum Genet
. 2024 Aug;
111(9):2044-2058.
PMID: 39142283
The ENIGMA research consortium develops and applies methods to determine clinical significance of variants in hereditary breast and ovarian cancer genes. An ENIGMA BRCA1/2 classification sub-group, formed in 2015 as...
4.
Martins A, Ferreira B, Gaspar M, Vieira S, Lopes J, Viana A, et al.
Pharmaceutics
. 2024 Jul;
16(7).
PMID: 39065597
The present work consisted of an exploratory study aiming to evaluate in vitro the potential of AuNPs during Radiation Therapy (RT) in human pancreatic adenocarcinoma cells. AuNPs coated with hyaluronic...
5.
Cardoso M, Carvalho R, Correia F, Branco J, Costa M, Martins A
GE Port J Gastroenterol
. 2024 Jun;
31(3):203-208.
PMID: 38836124
Introduction: The association of hepatitis delta virus (HDV) infection with positive autoantibodies and autoimmune features has been known for decades. However, to date, very few cases of clinical autoimmune hepatitis...
6.
Yin X, Richardson M, Laner A, Shi X, Ognedal E, Vasta V, et al.
medRxiv
. 2024 May;
PMID: 38746299
Background: Pathogenic constitutional variants underlie familial adenomatous polyposis, the most common hereditary gastrointestinal polyposis syndrome. To improve variant classification and resolve the interpretative challenges of variants of uncertain significance (VUS),...
7.
Lord J, Oquendo C, Wai H, Douglas A, Bunyan D, Wang Y, et al.
Hum Genet
. 2024 Jan;
PMID: 38170232
Variants which disrupt splicing are a frequent cause of rare disease that have been under-ascertained clinically. Accurate and efficient methods to predict a variant's impact on splicing are needed to...
8.
Spier I, Yin X, Richardson M, Pineda M, Laner A, Ritter D, et al.
Genet Med
. 2023 Oct;
26(2):100992.
PMID: 37800450
Purpose: The Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel (VCEP) was established by the International Society for Gastrointestinal Hereditary Tumours and the Clinical Genome Resource, who set out to develop...
9.
Stolarova L, Kleiblova P, Zemankova P, Stastna B, Janatova M, Soukupova J, et al.
Clin Cancer Res
. 2023 Jul;
29(16):3037-3050.
PMID: 37449874
Purpose: Germline pathogenic variants in CHEK2 confer moderately elevated breast cancer risk (odds ratio, OR ∼ 2.5), qualifying carriers for enhanced breast cancer screening. Besides pathogenic variants, dozens of missense...
10.
Wedemeyer H, Di Marco V, Garcia-Retortillo M, Teti E, Fraser C, Morano Amado L, et al.
Viruses
. 2022 Nov;
14(11).
PMID: 36423102
Hepatitis C virus (HCV) is prevalent in people with mental health disorders, a priority population to diagnose and cure in order to achieve HCV elimination. This integrated analysis pooled data...