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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 1
2003 1
2005 1
2007 3
2009 1
2010 3
2011 1
2012 4
2013 4
2014 6
2015 3
2016 2
2017 5
2018 3
2019 1
2020 6
2021 3
2022 7
2023 3
2024 1

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54 results

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Page 1
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
Kaur M, Blair J, Devkota B, Fortunato S, Clark D, Lawrence A, Kim J, Do W, Semeo B, Katz O, Mehta D, Yamamoto N, Schindler E, Al Rawi Z, Wallace N, Wilde JJ, McCallum J, Liu J, Xu D, Jackson M, Rentas S, Tayoun AA, Zhe Z, Abdul-Rahman O, Allen B, Angula MA, Anyane-Yeboa K, Argente J, Arn PH, Armstrong L, Basel-Salmon L, Baynam G, Bird LM, Bruegger D, Ch'ng GS, Chitayat D, Clark R, Cox GF, Dave U, DeBaere E, Field M, Graham JM Jr, Gripp KW, Greenstein R, Gupta N, Heidenreich R, Hoffman J, Hopkin RJ, Jones KL, Jones MC, Kariminejad A, Kogan J, Lace B, Leroy J, Lynch SA, McDonald M, Meagher K, Mendelsohn N, Micule I, Moeschler J, Nampoothiri S, Ohashi K, Powell CM, Ramanathan S, Raskin S, Roeder E, Rio M, Rope AF, Sangha K, Scheuerle AE, Schneider A, Shalev S, Siu V, Smith R, Stevens C, Tkemaladze T, Toimie J, Toriello H, Turner A, Wheeler PG, White SM, Young T, Loomes KM, Pipan M, Harrington AT, Zackai E, Rajagopalan R, Conlin L, Deardorff MA, McEldrew D, Pie J, Ramos F, Musio A, Kline AD, Izumi K, Raible SE, Krantz ID. Kaur M, et al. Among authors: pie j. Am J Med Genet A. 2023 Aug;191(8):2113-2131. doi: 10.1002/ajmg.a.63247. Epub 2023 Jun 28. Am J Med Genet A. 2023. PMID: 37377026
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: pie j. 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.
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: pie j. 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.
Cornelia de Lange syndrome and cancer: An open question.
Pallotta MM, Di Nardo M, Hennekam RCM, Kaiser FJ, Parenti I, Pié J, Ramos FJ, Kline AD, Musio A. Pallotta MM, et al. Among authors: pie j. Am J Med Genet A. 2023 Jan;191(1):292-295. doi: 10.1002/ajmg.a.62992. Epub 2022 Oct 17. Am J Med Genet A. 2023. PMID: 36253936 Free PMC article. No abstract available.
Molecular Basis of the Schuurs-Hoeijmakers Syndrome: What We Know about the Gene and the PACS-1 Protein and Novel Therapeutic Approaches.
Arnedo M, Ascaso Á, Latorre-Pellicer A, Lucia-Campos C, Gil-Salvador M, Ayerza-Casas A, Pablo MJ, Gómez-Puertas P, Ramos FJ, Bueno-Lozano G, Pié J, Puisac B. Arnedo M, et al. Among authors: pie j. 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.
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.
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.
Luque J, Mendes I, Gómez B, Morte B, López de Heredia M, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F; CIBERER Network; Lapunzina P. Luque J, et al. Clin Genet. 2022 May;101(5-6):481-493. doi: 10.1111/cge.14113. Epub 2022 Feb 4. Clin Genet. 2022. PMID: 35060122 Free PMC article. Review.
54 results