Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

50 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
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. Sci Rep. 2021 Jul 29;11(1):15459. doi: 10.1038/s41598-021-94958-z. Sci Rep. 2021. PMID: 34326454 Free PMC article.
Special cases in Cornelia de Lange syndrome: The Spanish experience.
Pié J, Puisac B, Hernández-Marcos M, Teresa-Rodrigo ME, Gil-Rodríguez M, Baquero-Montoya C, Ramos-Cáceres M, Bernal M, Ayerza-Casas A, Bueno I, Gómez-Puertas P, Ramos FJ. Pié J, et al. Am J Med Genet C Semin Med Genet. 2016 Jun;172(2):198-205. doi: 10.1002/ajmg.c.31501. Epub 2016 May 10. Am J Med Genet C Semin Med Genet. 2016. PMID: 27164022 Review.
Cornelia de Lange syndrome: Congenital heart disease in 149 patients.
Ayerza Casas A, Puisac Uriol B, Teresa Rodrigo ME, Hernández Marcos M, Ramos Fuentes FJ, Pie Juste J. Ayerza Casas A, et al. Med Clin (Barc). 2017 Oct 11;149(7):300-302. doi: 10.1016/j.medcli.2017.03.051. Epub 2017 Jun 16. Med Clin (Barc). 2017. PMID: 28629661 English, Spanish.
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. 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.
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: ayerza casas 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.
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. Among authors: ayerza casas a. 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.
50 results