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Page 1
Metabolic abnormalities in Williams-Beuren syndrome.
Palacios-Verdú MG, Segura-Puimedon M, Borralleras C, Flores R, Del Campo M, Campuzano V, Pérez-Jurado LA. Palacios-Verdú MG, et al. Among authors: del campo m. J Med Genet. 2015 Apr;52(4):248-55. doi: 10.1136/jmedgenet-2014-102713. Epub 2015 Feb 6. J Med Genet. 2015. PMID: 25663682
Whole exome sequencing for the identification of a new mutation in TGFB2 involved in a familial case of non-syndromic aortic disease.
Gago-Díaz M, Blanco-Verea A, Teixidó-Turà G, Valenzuela I, Del Campo M, Borregan M, Sobrino B, Amigo J, García-Dorado D, Evangelista A, Carracedo A, Brion M. Gago-Díaz M, et al. Among authors: del campo m. Clin Chim Acta. 2014 Nov 1;437:88-92. doi: 10.1016/j.cca.2014.07.016. Epub 2014 Jul 19. Clin Chim Acta. 2014. PMID: 25046559
Nonsyndromic familial aortic disease: an underdiagnosed entity.
Teixidó-Turà G, Valenzuela I, Gutiérrez L, Borregan M, del Campo M, Evangelista A. Teixidó-Turà G, et al. Among authors: del campo m. Rev Esp Cardiol (Engl Ed). 2014 Oct;67(10):861-3. doi: 10.1016/j.rec.2014.06.003. Epub 2014 Sep 8. Rev Esp Cardiol (Engl Ed). 2014. PMID: 25200617 No abstract available.
Neurodevelopment in Children Exposed to Zika in utero: Clinical and Molecular Aspects.
Schuler-Faccini L, Del Campo M, García-Alix A, Ventura LO, Boquett JA, van der Linden V, Pessoa A, van der Linden Júnior H, Ventura CV, Leal MC, Kowalski TW, Rodrigues Gerzson L, Skilhan de Almeida C, Santi L, Beys-da-Silva WO, Quincozes-Santos A, Guimarães JA, Garcez PP, Gomes JDA, Vianna FSL, Anjos da Silva A, Fraga LR, Vieira Sanseverino MT, Muotri AR, Lopes da Rosa R, Abeche AM, Marcolongo-Pereira C, Souza DO. Schuler-Faccini L, et al. Among authors: del campo m. Front Genet. 2022 Mar 8;13:758715. doi: 10.3389/fgene.2022.758715. eCollection 2022. Front Genet. 2022. PMID: 35350244 Free PMC article. Review.
PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome.
Nevado J, Rosenfeld JA, Mena R, Palomares-Bralo M, Vallespín E, Ángeles Mori M, Tenorio JA, Gripp KW, Denenberg E, Del Campo M, Plaja A, Martín-Arenas R, Santos-Simarro F, Armengol L, Gowans G, Orera M, Sanchez-Hombre MC, Corbacho-Fernández E, Fernández-Jaén A, Haldeman-Englert C, Saitta S, Dubbs H, Bénédicte DB, Li X, Devaney L, Dinulos MB, Vallee S, Crespo MC, Fernández B, Fernández-Montaño VE, Rueda-Arenas I, de Torres ML, Ellison JW, Raskin S, Venegas-Vega CA, Fernández-Ramírez F, Delicado A, García-Miñaúr S, Lapunzina P. Nevado J, et al. Among authors: del campo m. Eur J Hum Genet. 2015 Dec;23(12):1615-26. doi: 10.1038/ejhg.2015.51. Epub 2015 Apr 8. Eur J Hum Genet. 2015. PMID: 25853300 Free PMC article.
[Williams syndrome: its clinical aspects and molecular bases].
Antonell A, Del Campo M, Flores R, Campuzano V, Perez-Jurado LA. Antonell A, et al. Among authors: del campo m. Rev Neurol. 2006 Jan 7;42 Suppl 1:S69-75. Rev Neurol. 2006. PMID: 16506136 Free article. Review. Spanish.
276 results