Angela Ascaso
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Explore the profile of Angela Ascaso including associated specialties, affiliations and a list of published articles.
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7
Citations
50
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Recent Articles
1.
Ascaso A, Arnedo M, Puisac B, Latorre-Pellicer A, Del Rincon J, Bueno-Lozano G, et al.
An Pediatr (Engl Ed)
. 2024 May;
100(5):352-362.
PMID: 38735830
Cornelia de Lange syndrome (CdLS) is a rare congenital developmental disorder with multisystemic involvement. The clinical presentation is highly variable, but the classic phenotype, characterized by distinctive craniofacial features, pre-...
2.
Ascaso A, Latorre-Pellicer A, Puisac B, Trujillano L, Arnedo M, Parenti I, et al.
J Clin Res Pediatr Endocrinol
. 2022 Dec;
16(2):211-217.
PMID: 36482071
The aim of this study was to expand knowledge about endocrine disorders in individuals with Cornelia de Lange syndrome (CdLS), a rare developmental genetic disorder with anomalies in multiple organs...
3.
Trujillano L, Ayerza-Casas A, Puisac B, Garcia G, Ascaso A, Latorre-Pellicer A, et al.
Int J Cardiovasc Imaging
. 2022 Nov;
38(11):2291-2302.
PMID: 36434327
This study assesses a possible cardiac dysfunction in individuals with Cornelia de Lange syndrome (CdLS) without diagnosed congenital heart disease (CHD) and its association with other factors. Twenty patients and...
4.
Arnedo M, Ascaso A, Latorre-Pellicer A, Lucia-Campos C, Gil-Salvador M, Ayerza-Casas A, et al.
Int J Mol Sci
. 2022 Sep;
23(17).
PMID: 36077045
The Schuurs−Hoeijmakers syndrome (SHMS) or PACS1 Neurodevelopment Disorder (PACS1-NDD) is a rare autosomal dominant disease caused by mutations in the PACS1 gene. To date, only 87 patients have been reported...
5.
Latorre-Pellicer A, Ascaso A, Lucia-Campos C, Gil-Salvador M, Arnedo M, Antonanzas R, et al.
Mol Genet Genomic Med
. 2021 Oct;
9(11):e1826.
PMID: 34617417
No abstract available.
6.
Latorre-Pellicer A, Gil-Salvador M, Parenti I, Lucia-Campos C, Trujillano L, Marcos-Alcalde I, et al.
Sci Rep
. 2021 Jul;
11(1):15459.
PMID: 34326454
Postzygotic mosaicism (PZM) in NIPBL is a strong source of causality for Cornelia de Lange syndrome (CdLS) that can have major clinical implications. Here, we further delineate the role of...
7.
Latorre-Pellicer A, Ascaso A, Trujillano L, Gil-Salvador M, Arnedo M, Lucia-Campos C, et al.
Int J Mol Sci
. 2020 Feb;
21(3).
PMID: 32033219
Characteristic or classic phenotype of Cornelia de Lange syndrome (CdLS) is associated with a recognisable facial pattern. However, the heterogeneity in causal genes and the presence of overlapping syndromes have...