Salud Borrego
Overview
Explore the profile of Salud Borrego including associated specialties, affiliations and a list of published articles.
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Articles
118
Citations
2028
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0
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Recent Articles
1.
Mendez-Vidal C, Bravo-Gil N, Perez-Florido J, Marcos-Luque I, Fernandez R, Fernandez-Rueda J, et al.
J Transl Med
. 2025 Jan;
23(1):86.
PMID: 39833864
Background: Despite the use of Next-Generation Sequencing (NGS) as the gold standard for the diagnosis of rare diseases, its clinical implementation has been challenging, limiting the cost-effectiveness of NGS and...
2.
Fernandez-Suarez E, Gonzalez-Del Pozo M, Mendez-Vidal C, Martin-Sanchez M, Mena M, de la Morena-Barrio B, et al.
Mob DNA
. 2024 May;
15(1):9.
PMID: 38704576
Background: Biallelic variants in EYS are the major cause of autosomal recessive retinitis pigmentosa (arRP) in certain populations, a clinically and genetically heterogeneous disease that may lead to legal blindness....
3.
Lucena-Padros H, Bravo-Gil N, Tous C, Rojano E, Seoane-Zonjic P, Fernandez R, et al.
Biomolecules
. 2024 Feb;
14(2).
PMID: 38397401
Hirschsprung's disease (HSCR) is a rare developmental disorder in which enteric ganglia are missing along a portion of the intestine. HSCR has a complex inheritance, with as the major disease-causing...
4.
Tous C, Munoz-Redondo C, Gavilan A, Bravo-Gil N, Baco-Anton F, Navarro-Gonzalez E, et al.
Int J Mol Sci
. 2024 Feb;
25(3).
PMID: 38338866
Papillary thyroid carcinoma (PTC) is the most common histological category of thyroid cancer. In recent years, there has been an increasing number of studies on lncRNAs in PTC. Long intergenic...
5.
Fernandez-Suarez E, Gonzalez-Del Pozo M, Garcia-Nunez A, Mendez-Vidal C, Martin-Sanchez M, Mejias-Carrasco J, et al.
Front Cell Dev Biol
. 2023 Aug;
11:1197744.
PMID: 37547476
Inherited retinal dystrophies (IRDs) are a clinically and genetically heterogeneous group of disorders that often severely impair vision. Some patients manifest poor central vision as the first symptom due to...
6.
Tous C, Munoz-Redondo C, Bravo-Gil N, Gavilan A, Fernandez R, Antinolo J, et al.
Int J Mol Sci
. 2023 May;
24(9).
PMID: 37175550
Thyroid carcinoma (TC) can be classified as medullary (MTC) and non-medullary (NMTC). While most TCs are sporadic, familial forms of MTC and NMTC also exist (less than 1% and 3-9%...
7.
Puppo Moreno A, Bravo-Gil N, Mendez-Vidal C, Adsuar Gomez A, Gomez Ruiz F, Jimenez De Juan C, et al.
Rev Esp Cardiol (Engl Ed)
. 2022 Oct;
76(6):434-443.
PMID: 36307044
Introduction And Objectives: Genetic testing is becoming increasingly important for diagnosis and personalized treatments in aortopathies. Here, we aimed to genetically diagnose a group of acute aortic syndrome (AAS) patients...
8.
Garcia-Garcia E, Fernandez R, Navarro-Moreno C, Gomez-Gila A, Borrego S
J Pediatr Endocrinol Metab
. 2022 Aug;
35(10):1306-1308.
PMID: 35932482
Objectives: Congenital hypogonadotropic hypogonadism combined with anosmia or hyposmia is considered Kallmann syndrome (KS). It is often accompanied by bone defects. Case Presentation: Here, we report a girl and her...
9.
Gonzalez-Del Pozo M, Fernandez-Suarez E, Bravo-Gil N, Mendez-Vidal C, Martin-Sanchez M, Rodriguez-de la Rua E, et al.
NPJ Genom Med
. 2022 Mar;
7(1):17.
PMID: 35246562
To enhance the use of Whole Genome Sequencing (WGS) in clinical practice, it is still necessary to standardize data analysis pipelines. Herein, we aimed to define a WGS-based algorithm for...
10.
Villalba-Benito L, Lopez-Lopez D, Torroglosa A, Casimiro-Soriguer C, Luzon-Toro B, Fernandez R, et al.
Clin Epigenetics
. 2021 Mar;
13(1):51.
PMID: 33750457
Background: Hirschsprung disease (HSCR, OMIM 142623) is a rare congenital disorder that results from a failure to fully colonize the gut by enteric precursor cells (EPCs) derived from the neural...