Ana Rita Soares
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Explore the profile of Ana Rita Soares including associated specialties, affiliations and a list of published articles.
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18
Citations
45
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Recent Articles
1.
Da Silva J, Maia N, Jorge P, Sousa V, Tkachenko N, Soares A
J Med Genet
. 2025 Feb;
PMID: 39956615
Background: Clinicians often deal with copy-number variants of unknown significance (CNVUS) when managing neurodevelopmental disorders (NDDs). Variant classification is often complemented with textual comments, while the American College of Medical...
2.
Da Silva J, Soares A, Fortuna A, Tkachenko N
Genet Med Open
. 2024 Dec;
1(1):100781.
PMID: 39669252
Purpose: Ellis-van Creveld (EVC) syndrome is an autosomal recessive skeletal ciliopathy that was first identified in the Old Order Amish. Since its discovery, two causal genes have been identified, and...
3.
Wanner C, Iliev H, Duarte N, Schueler E, Soares A, Thanam V, et al.
Adv Ther
. 2024 May;
41(7):2826-2844.
PMID: 38771475
Introduction: Empagliflozin is a sodium-glucose co-transporter-2 inhibitor used to treat type 2 diabetes (T2D) to improve glycemic control, reduce risk of cardiovascular death in patients with T2D, and treat patients...
4.
Da Silva J, Pereira A, Soares A, Guimas A, Rocha S, Cardoso M, et al.
Pediatr Res
. 2023 Dec;
96(2):365-371.
PMID: 38052860
Background: Glycogen storage disease type V (GSDV) is an autosomal recessive metabolic condition caused by pathogenic PYGM variants. This is an underdiagnosed condition as it presents with exercise intolerance in...
5.
Losa A, Da Silva Cardoso J, Leite S, Barros A, Guedes A, Rodrigues C, et al.
Cureus
. 2023 Nov;
15(10):e46328.
PMID: 37916235
Alterations in gonad formation or function can lead to congenital conditions in which chromosomal, gonadal, or anatomical sex is atypical. These conditions are referred to as disorders of sex development...
6.
Pereira A, Da Silva J, Soares A, Guimas A, Rocha S, Cardoso M, et al.
Endocr Metab Immune Disord Drug Targets
. 2023 Sep;
PMID: 37711120
Introduction - Glycogen storage disease type V (GSDV, MIM #232600) is an autosomal recessive metabolic myopathy caused by pathogenic variants in the PYGM gene. The characteristic symptoms of exercise intolerance,...
7.
Gameiro Dos Santos P, Soares A, Thorsteinsdottir S, Rodrigues G
J Vis Exp
. 2023 Mar;
(193).
PMID: 36939258
The extracellular matrix (ECM) plays a crucial role in providing structural support for cells and conveying signals that are important for various cellular processes. Two-dimensional (2D) cell culture models oversimplify...
8.
Soares A, Coelho M, Tracey M, Carvalho D, Silva-Nunes J
Diabetes Ther
. 2023 Jan;
14(2):265-291.
PMID: 36680681
Introduction: The aim of this review was to identify and review studies reporting on the epidemiological, social and economic impact associated with severe hypoglycaemia (SH) in people with diabetes mellitus...
9.
Da Silva J, Gonzaga D, Barreta A, Correia H, Fortuna A, Soares A, et al.
Biomedicines
. 2022 Dec;
10(12).
PMID: 36551834
The chromosomal region 17p13.3 contains extensive repetitive sequences and is a well-recognized region of genomic instability. The 17p13.3 microduplication syndrome has been associated with a clinical spectrum of moderately non-specific...
10.
Santos Monteiro S, da Silva Santos T, Fonseca L, Assuncao G, Lopes A, Duarte D, et al.
Acta Diabetol
. 2022 Oct;
60(1):83-91.
PMID: 36208343
Aims: Monogenic forms of diabetes that develop with autosomal dominant inheritance are classically aggregated in the Maturity-Onset Diabetes of the Young (MODY) categories. Despite increasing awareness, its true prevalence remains...