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Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation.
Baquero-Montoya C, Gil-Rodríguez MC, Hernández-Marcos M, Teresa-Rodrigo ME, Vicente-Gabas A, Bernal ML, Casale CH, Bueno-Lozano G, Bueno-Martínez I, Queralt E, Villa O, Hernando-Davalillo C, Armengol L, Gómez-Puertas P, Puisac B, Selicorni A, Ramos FJ, Pié J. Baquero-Montoya C, et al. Among authors: armengol l. Eur J Med Genet. 2014 Sep;57(9):503-9. doi: 10.1016/j.ejmg.2014.05.006. Epub 2014 May 27. Eur J Med Genet. 2014. PMID: 24874887
Further delineation of the phenotype caused by loss of function mutations in PRMT7.
Valenzuela I, Segura-Puimedon M, Rodríguez-Santiago B, Fernández-Alvarez P, Vendrell T, Armengol L, Tizzano E. Valenzuela I, et al. Among authors: armengol l. Eur J Med Genet. 2019 Mar;62(3):182-185. doi: 10.1016/j.ejmg.2018.07.007. Epub 2018 Jul 10. Eur J Med Genet. 2019. PMID: 30006058 Review.
Further delineation of the phenotype of PAK3-associated x-linked intellectual disability: Identification of a novel missense mutation and review of literature.
Nagy D, Farkas K, Armengol L, Segura M, Esi Zodanu GK, Csányi B, Zimmermann A, Vámos B, Széll M. Nagy D, et al. Among authors: armengol l. Eur J Med Genet. 2020 Apr;63(4):103800. doi: 10.1016/j.ejmg.2019.103800. Epub 2019 Oct 31. Eur J Med Genet. 2020. PMID: 31678216 Review. No abstract available.
Mosaic uniparental disomies and aneuploidies as large structural variants of the human genome.
Rodríguez-Santiago B, Malats N, Rothman N, Armengol L, Garcia-Closas M, Kogevinas M, Villa O, Hutchinson A, Earl J, Marenne G, Jacobs K, Rico D, Tardón A, Carrato A, Thomas G, Valencia A, Silverman D, Real FX, Chanock SJ, Pérez-Jurado LA. Rodríguez-Santiago B, et al. Among authors: armengol l. Am J Hum Genet. 2010 Jul 9;87(1):129-38. doi: 10.1016/j.ajhg.2010.06.002. Am J Hum Genet. 2010. PMID: 20598279 Free PMC article.
Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis.
Armengol L, Nevado J, Serra-Juhé C, Plaja A, Mediano C, García-Santiago FA, García-Aragonés M, Villa O, Mansilla E, Preciado C, Fernández L, Ángeles Mori M, García-Pérez L, Lapunzina PD, Pérez-Jurado LA. Armengol L, et al. Hum Genet. 2012 Mar;131(3):513-23. doi: 10.1007/s00439-011-1095-5. Hum Genet. 2012. PMID: 21975797 Free PMC article. Clinical Trial.
76 results