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Year | Number of Results |
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2020 | 1 |
2021 | 2 |
2022 | 3 |
2024 | 0 |
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Page 1
Molecular Basis of the Schuurs-Hoeijmakers Syndrome: What We Know about the Gene and the PACS-1 Protein and Novel Therapeutic Approaches.
Int J Mol Sci. 2022 Aug 25;23(17):9649. doi: 10.3390/ijms23179649.
Int J Mol Sci. 2022.
PMID: 36077045
Free PMC article.
Review.
Endocrine Evaluation and Homeostatic Model Assessment in Patients with Cornelia de Lange Syndrome.
Ascaso Á, Latorre-Pellicer A, Puisac B, Trujillano L, Arnedo M, Parenti I, Llorente E, Puente-Lanzarote JJ, Matute-Llorente Á, Ayerza-Casas A, Kaiser FJ, Ramos FJ, Pié J, Bueno-Lozano G.
Ascaso Á, et al.
J Clin Res Pediatr Endocrinol. 2022 Dec 9. doi: 10.4274/jcrpe.galenos.2022.2022-4-14. Online ahead of print.
J Clin Res Pediatr Endocrinol. 2022.
PMID: 36482071
Free article.
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Things are not always what they seem: From Cornelia de Lange to KBG phenotype in a girl with genetic variants in NIPBL and ANKRD11.
Latorre-Pellicer A, Ascaso Á, Lucia-Campos C, Gil-Salvador M, Arnedo M, Antoñanzas R, Ayerza-Casas A, Marcos-Alcalde I, Gómez-Puertas P, Ramos FJ, Pié J, Puisac B.
Latorre-Pellicer A, et al. Among authors: ascaso a.
Mol Genet Genomic Med. 2021 Nov;9(11):e1826. doi: 10.1002/mgg3.1826. Epub 2021 Oct 7.
Mol Genet Genomic Med. 2021.
PMID: 34617417
Free PMC article.
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Subclinical myocardial dysfunction is revealed by speckle tracking echocardiography in patients with Cornelia de Lange syndrome.
Trujillano L, Ayerza-Casas A, Puisac B, García GG, Ascaso Á, Latorre-Pellicer A, Arnedo M, Lucia-Campos C, Gil-Salvador M, Kaiser FJ, Ramos FJ, Pié J, Bueno-Lozano G.
Trujillano L, et al. Among authors: ascaso a.
Int J Cardiovasc Imaging. 2022 Nov;38(11):2291-2302. doi: 10.1007/s10554-022-02612-0. Epub 2022 May 19.
Int J Cardiovasc Imaging. 2022.
PMID: 36434327
Free PMC article.
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Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood.
Latorre-Pellicer A, Gil-Salvador M, Parenti I, Lucia-Campos C, Trujillano L, Marcos-Alcalde I, Arnedo M, Ascaso Á, Ayerza-Casas A, Antoñanzas-Pérez R, Gervasini C, Piccione M, Mariani M, Weber A, Kanber D, Kuechler A, Munteanu M, Khuller K, Bueno-Lozano G, Puisac B, Gómez-Puertas P, Selicorni A, Kaiser FJ, Ramos FJ, Pié J.
Latorre-Pellicer A, et al. Among authors: ascaso a.
Sci Rep. 2021 Jul 29;11(1):15459. doi: 10.1038/s41598-021-94958-z.
Sci Rep. 2021.
PMID: 34326454
Free PMC article.
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Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes.
Latorre-Pellicer A, Ascaso Á, Trujillano L, Gil-Salvador M, Arnedo M, Lucia-Campos C, Antoñanzas-Pérez R, Marcos-Alcalde I, Parenti I, Bueno-Lozano G, Musio A, Puisac B, Kaiser FJ, Ramos FJ, Gómez-Puertas P, Pié J.
Latorre-Pellicer A, et al. Among authors: ascaso a.
Int J Mol Sci. 2020 Feb 4;21(3):1042. doi: 10.3390/ijms21031042.
Int J Mol Sci. 2020.
PMID: 32033219
Free PMC article.
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