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Page 1
Direct tandem duplication in chromosome 19q characterized by array CGH.
Palomares Bralo M, Delicado A, Lapunzina P, Velázquez Fragua R, Villa O, Angeles Mori M, Luisa de Torres M, Fernández L, Pérez Jurado LA, López Pajares I. Palomares Bralo M, et al. Among authors: lapunzina p. Eur J Med Genet. 2008 May-Jun;51(3):257-63. doi: 10.1016/j.ejmg.2008.01.003. Epub 2008 Feb 2. Eur J Med Genet. 2008. PMID: 18342596
Constitutional mosaic genome-wide uniparental disomy due to diploidisation: an unusual cancer-predisposing mechanism.
Romanelli V, Nevado J, Fraga M, Trujillo AM, Mori MÁ, Fernández L, Pérez de Nanclares G, Martínez-Glez V, Pita G, Meneses H, Gracia R, García-Miñaur S, García de Miguel P, Lecumberri B, Rodríguez JI, González Neira A, Monk D, Lapunzina P. Romanelli V, et al. Among authors: lapunzina p. J Med Genet. 2011 Mar;48(3):212-6. doi: 10.1136/jmg.2010.081919. Epub 2010 Nov 19. J Med Genet. 2011. PMID: 21097775
Constitutional and somatic methylation status of DMRH19 and KvDMR in Wilms tumor patients.
Cardoso LC, Tenorio Castaño JA, Pereira HS, Lima MA, Dos Santos AC, de Faria PS, Ferman S, Seuánez HN, Nevado JB, de Almeida JC, Lapunzina P, Vargas FR. Cardoso LC, et al. Among authors: lapunzina p. Genet Mol Biol. 2012 Dec;35(4):714-24. doi: 10.1590/S1415-47572012005000073. Epub 2012 Nov 9. Genet Mol Biol. 2012. PMID: 23271929 Free PMC article.
Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH.
Blanco-Kelly F, Palomares M, Vallespín E, Villaverde C, Martín-Arenas R, Vélez-Monsalve C, Lorda-Sánchez I, Nevado J, Trujillo-Tiebas MJ, Lapunzina P, Ayuso C, Corton M. Blanco-Kelly F, et al. Among authors: lapunzina p. PLoS One. 2017 Feb 23;12(2):e0172363. doi: 10.1371/journal.pone.0172363. eCollection 2017. PLoS One. 2017. PMID: 28231309 Free PMC article.
Clinical Implementation of Pharmacogenetic Testing in a Hospital of the Spanish National Health System: Strategy and Experience Over 3 Years.
Borobia AM, Dapia I, Tong HY, Arias P, Muñoz M, Tenorio J, Hernández R, García García I, Gordo G, Ramírez E, Frías J, Lapunzina P, Carcas AJ. Borobia AM, et al. Among authors: lapunzina p. Clin Transl Sci. 2018 Mar;11(2):189-199. doi: 10.1111/cts.12526. Epub 2017 Nov 28. Clin Transl Sci. 2018. PMID: 29193749 Free PMC article.
Further definition of the proximal 19p13.3 microdeletion/microduplication syndrome and implication of PIAS4 as the major contributor.
Tenorio J, Nevado J, González-Meneses A, Arias P, Dapía I, Venegas-Vega CA, Calvente M, Hernández A, Landera L, Ramos S; SOGRI Consortium; Cigudosa JC, Pérez-Jurado LA, Lapunzina P. Tenorio J, et al. Among authors: lapunzina p. Clin Genet. 2020 Mar;97(3):467-476. doi: 10.1111/cge.13689. Epub 2020 Jan 23. Clin Genet. 2020. PMID: 31972898
A six-attribute classification of genetic mosaicism.
Martínez-Glez V, Tenorio J, Nevado J, Gordo G, Rodríguez-Laguna L, Feito M, de Lucas R, Pérez-Jurado LA, Ruiz Pérez VL, Torrelo A, Spinner NB, Happle R, Biesecker LG, Lapunzina P. Martínez-Glez V, et al. Among authors: lapunzina p. Genet Med. 2020 Nov;22(11):1743-1757. doi: 10.1038/s41436-020-0877-3. Epub 2020 Jul 14. Genet Med. 2020. PMID: 32661356 Free PMC article. Review.
283 results