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110 results

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Page 1
An intragenic duplication in the AFF2 gene associated with Cornelia de Lange syndrome phenotype.
Lucia-Campos C, Parenti I, Latorre-Pellicer A, Gil-Salvador M, Bestetti I, Finelli P, Larizza L, Arnedo M, Ayerza-Casas A, Del Rincón J, Trujillano L, Morte B, Pérez-Jurado LA, Lapunzina P, Leitão E, Beygo J, Lich C, Kilpert F, Kaya S, Depienne C, Kaiser FJ, Ramos FJ, Puisac B, Pié J. Lucia-Campos C, et al. Among authors: pie j. Front Genet. 2024 Nov 1;15:1472543. doi: 10.3389/fgene.2024.1472543. eCollection 2024. Front Genet. 2024. PMID: 39553472 Free PMC article.
A Novel Intragenic Duplication in the HDAC8 Gene Underlying a Case of Cornelia de Lange Syndrome.
Lucia-Campos C, Valenzuela I, Latorre-Pellicer A, Ros-Pardo D, Gil-Salvador M, Arnedo M, Puisac B, Castells N, Plaja A, Tenes A, Cuscó I, Trujillano L, Ramos FJ, Tizzano EF, Gómez-Puertas P, Pié J. Lucia-Campos C, et al. Among authors: pie j. Genes (Basel). 2022 Aug 8;13(8):1413. doi: 10.3390/genes13081413. Genes (Basel). 2022. PMID: 36011323 Free PMC article.
Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome.
Pié J, Gil-Rodríguez MC, Ciero M, López-Viñas E, Ribate MP, Arnedo M, Deardorff MA, Puisac B, Legarreta J, de Karam JC, Rubio E, Bueno I, Baldellou A, Calvo MT, Casals N, Olivares JL, Losada A, Hegardt FG, Krantz ID, Gómez-Puertas P, Ramos FJ. Pié J, et al. Am J Med Genet A. 2010 Apr;152A(4):924-9. doi: 10.1002/ajmg.a.33348. Am J Med Genet A. 2010. PMID: 20358602 Free PMC article.
Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches.
Baquero-Montoya C, Gil-Rodríguez MC, Braunholz D, Teresa-Rodrigo ME, Obieglo C, Gener B, Schwarzmayr T, Strom TM, Gómez-Puertas P, Puisac B, Gillessen-Kaesbach G, Musio A, Ramos FJ, Kaiser FJ, Pié J. Baquero-Montoya C, et al. Among authors: pie j. Clin Genet. 2014 Dec;86(6):595-7. doi: 10.1111/cge.12333. Epub 2014 Jan 26. Clin Genet. 2014. PMID: 24635725 No abstract available.
Clinical utility gene card for: Cornelia de Lange syndrome.
Ramos FJ, Puisac B, Baquero-Montoya C, Gil-Rodríguez MC, Bueno I, Deardorff MA, Hennekam RC, Kaiser FJ, Krantz ID, Musio A, Selicorni A, FitzPatrick DR, Pié J. Ramos FJ, et al. Among authors: pie j. Eur J Hum Genet. 2015 Oct;23(10):1431. doi: 10.1038/ejhg.2014.270. Epub 2014 Dec 24. Eur J Hum Genet. 2015. PMID: 25537356 Free PMC article. No abstract available.
Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome.
Teresa-Rodrigo ME, Eckhold J, Puisac B, Pozojevic J, Parenti I, Baquero-Montoya C, Gil-Rodríguez MC, Braunholz D, Dalski A, Hernández-Marcos M, Ayerza A, Bernal ML, Ramos FJ, Wieczorek D, Gillessen-Kaesbach G, Pié J, Kaiser FJ. Teresa-Rodrigo ME, et al. Among authors: pie j. Biomed Res Int. 2016;2016:8742939. doi: 10.1155/2016/8742939. Epub 2016 Jan 26. Biomed Res Int. 2016. PMID: 26925417 Free PMC article.
Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes.
Parenti I, Teresa-Rodrigo ME, Pozojevic J, Ruiz Gil S, Bader I, Braunholz D, Bramswig NC, Gervasini C, Larizza L, Pfeiffer L, Ozkinay F, Ramos F, Reiz B, Rittinger O, Strom TM, Watrin E, Wendt K, Wieczorek D, Wollnik B, Baquero-Montoya C, Pié J, Deardorff MA, Gillessen-Kaesbach G, Kaiser FJ. Parenti I, et al. Among authors: pie j. Hum Genet. 2017 Mar;136(3):307-320. doi: 10.1007/s00439-017-1758-y. Epub 2017 Jan 24. Hum Genet. 2017. PMID: 28120103
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: pie j. Int J Mol Sci. 2020 Feb 4;21(3):1042. doi: 10.3390/ijms21031042. Int J Mol Sci. 2020. PMID: 32033219 Free PMC article.
110 results