Elena Garcia-Arumi
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Explore the profile of Elena Garcia-Arumi including associated specialties, affiliations and a list of published articles.
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81
Citations
964
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Recent Articles
1.
Xuncla M, Sanchez-Duran M, Rey N, Serrano M, Martinez P, Trobo L, et al.
Hum Reprod
. 2025 Mar;
PMID: 40064026
Placental mesenchymal dysplasia (PMD) is a rare placental pathology that may be associated with Beckwith-Wiedemann features in the fetus and may be due to the presence of an androgenetic cell...
2.
Trujillano L, Valenzuela I, Costa-Roger M, Cusco I, Fernandez-Alvarez P, Cueto-Gonzalez A, et al.
Clin Genet
. 2025 Jan;
PMID: 39833101
Bainbridge-Ropers Syndrome (BRPS) is a genetic condition resulting from truncating variants in the ASXL3 gene. The clinical features include neurodevelopmental and language impairments, behavioral issues, hypotonia, feeding difficulties, and distinctive...
3.
Valenzuela I, Codina-Sola M, Vazquez E, Cueto-Gonzalez A, Leno-Colorado J, Lasa-Aranzasti A, et al.
Genet Med
. 2024 Oct;
26(12):101288.
PMID: 39369315
Purpose: Despite ever-increasing knowledge of the genetic etiologies of neurodevelopmental disorders, approximately half remain undiagnosed after exome or genome sequencing. Here, we provide a deep clinical characterization of 11 previously...
4.
Yeste D, Baz-Redon N, Antolin M, Garcia-Arumi E, Mogas E, Campos-Martorell A, et al.
Int J Mol Sci
. 2024 Sep;
25(18).
PMID: 39337518
Genetic defects in the TSH receptor () can cause poor thyroid differentiation (thyroid dysgenesis) and/or thyroid malfunction (thyroid dyshormonogenesis). The phenotype spectrum is wide: from severe congenital hypothyroidism to mild...
5.
Baz-Redon N, Antolin M, Clemente M, Campos A, Mogas E, Fernandez-Cancio M, et al.
Int J Mol Sci
. 2024 Aug;
25(15).
PMID: 39126042
Thyroid dyshormonogenesis (THD) is a heterogeneous group of genetic diseases caused by the total or partial defect in the synthesis or secretion of thyroid hormones. Genetic variants in can cause...
6.
Antolin M, Tarraso G, Sanchez M, Plaja A, Martinez-Cruz D, Xuncla M, et al.
J Clin Med
. 2024 Jul;
13(14).
PMID: 39064047
: Non-Invasive prenatal test (NIPT) is used as a universal or contingent test after prior risk assessment. Screening is mainly performed for common trisomies (T21, T13, T18), although other chromosomal...
7.
Glennie L, Sola M, Xuncla M, Espanol G, Garcia-Arumi E, Tizzano E, et al.
Open Biol
. 2024 Jul;
14(7):240075.
PMID: 39043225
Palmoplantar keratoderma (PPK) is a multi-faceted skin disorder characterized by the thickening of the epidermis and abrasions on the palms and soles of the feet. Among the genetic causes, biallelic...
8.
Fernandez-Cancio M, Antolin M, Clemente M, Campos-Martorell A, Mogas E, Baz-Redon N, et al.
Front Endocrinol (Lausanne)
. 2024 Jul;
15:1367808.
PMID: 39040671
Introduction: Defects in any thyroid hormone synthesis steps cause thyroid dyshormonogenesis (THD). THD due to () gene variants is a cause of congenital hypothyroidism (CH) with a wide clinical spectrum,...
9.
Gartner S, Roca-Ferrer J, Fernandez-Alvarez P, Lima I, Rovira-Amigo S, Garcia-Arumi E, et al.
J Clin Med
. 2024 Apr;
13(7).
PMID: 38610815
Previous studies found high but very variable levels of tetranor-PGEM and PGDM (urine metabolites of prostaglandin (PG) E and PGD, respectively) in persons with cystic fibrosis (pwCF). This study aims...
10.
Ceballos F, Serrano-Lorenzo P, Bermejo-Guerrero L, Blazquez A, Quesada-Espinosa J, Amigo J, et al.
Neurol Genet
. 2024 Mar;
10(2):e200138.
PMID: 38544965
Objectives: Thymidine kinase 2 deficiency (TK2d) is a rare autosomal recessive disorder that stems from a perturbation of the mitochondrial DNA maintenance. Nucleoside treatment has recently shown promise as a...