Ana Maria Fortuna
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Explore the profile of Ana Maria Fortuna including associated specialties, affiliations and a list of published articles.
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31
Citations
275
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Recent Articles
11.
Penacoba P, Llauger M, Fortuna A, Flor X, Sampol G, Pedro-Pijoan A, et al.
BMC Pulm Med
. 2022 Jan;
22(1):38.
PMID: 35033055
Background: The coordination between different levels of care is essential for the management of obstructive sleep apnea (OSA). The objective of this multicenter project was to develop a screening model...
12.
Maia N, Soares A, Fortuna A, Marques I, Goncalves A, Santos R, et al.
Clin Case Rep
. 2020 Dec;
8(12):2476-2482.
PMID: 33363762
In a patient with Usher syndrome and atypical muscle complaints, we have identified two separate variants in and genes by exome sequencing. The homozygous variants in these two recessive genes...
13.
Quelhas D, Martins E, Azevedo L, Bandeira A, Diogo L, Garcia P, et al.
J Pediatr
. 2020 Dec;
231:148-156.
PMID: 33340551
Objective: To describe the clinical, biochemical, and genetic features of both new and previously reported patients with congenital disorders of glycosylation (CDGs) diagnosed in Portugal over the last 20 years....
14.
Soares A, Figueiredo C, Quelhas D, Santos Silva E, Freitas J, Oliveira M, et al.
Eur Endocrinol
. 2020 Jun;
16(1):66-68.
PMID: 32595772
Co-occurrence of hyperinsulinaemic hypoglycaemia and polycystic kidney disease (HIPKD) has been recently described. It is caused by a non-coding variant in the promoter region for phosphomannomutase 2 (), c.-167G>T, both...
15.
Soares A, Soares G, Mota-Freitas M, Oliva-Teles N, Fortuna A
Acta Med Port
. 2019 Aug;
32(7-8):529-535.
PMID: 31445533
Introduction: Intellectual disability affects 2% - 3% of the general population, with a chromosomal abnormality being found in 4% - 28% of these patients and a cryptic subtelomeric abnormality in...
16.
Lopes F, Torres F, Soares G, Barbosa M, Silva J, Duque F, et al.
Orphanet J Rare Dis
. 2019 Jul;
14(1):164.
PMID: 31277718
Background: High resolution genome-wide copy number analysis, routinely used in clinical diagnosis for several years, retrieves new and extremely rare copy number variations (CNVs) that provide novel candidate genes contributing...
17.
Lopes F, Torres F, Lynch S, Jorge A, Sousa S, Silva J, et al.
Neurogenetics
. 2017 Dec;
19(1):27-40.
PMID: 29260337
Copy number variations (CNVs) at the 7q33 cytoband are very rarely described in the literature, and almost all of the cases comprise large deletions affecting more than just the q33...
18.
Barcelo A, Morell-Garcia D, Salord N, Esquinas C, Perez G, Perez A, et al.
J Sleep Res
. 2017 May;
26(6):773-781.
PMID: 28513068
There is evidence that changes in branched-chain amino acid (BCAA) levels may correlate with the efficacy of therapeutic interventions for affecting improvement in metabolic control. The objective of this study...
19.
Fijalkowski I, Geets E, Steenackers E, Van Hoof V, Ramos F, Mortier G, et al.
J Bone Miner Res
. 2016 Jan;
31(4):874-81.
PMID: 26751728
Mutations in the LRP4 gene, coding for a Wnt signaling coreceptor, have been found to cause several allelic conditions. Among these, two are characterized by a strong skeletal involvement, namely...
20.
Salord N, Fortuna A, Monasterio C, Gasa M, Perez A, Bonsignore M, et al.
Sleep
. 2015 Sep;
39(1):35-41.
PMID: 26350474
Study Objectives: Obstructive sleep apnea (OSA) is associated with an increased prevalence of metabolic syndrome (MetS), even in patients with morbid obesity. Our goal was to address whether continuous positive...