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Page 1
[Extremely variable expressivity in Smith-Lemli-Opitz syndrome: Review of 4 cases].
Sánchez-Soler MJ, Serrano-Antón AT, López-González V, Ballesta-Martínez MJ, Guillén-Navarro E. Sánchez-Soler MJ, et al. An Pediatr (Engl Ed). 2021 May 29:S1695-4033(21)00165-X. doi: 10.1016/j.anpedi.2021.03.010. Online ahead of print. An Pediatr (Engl Ed). 2021. PMID: 34074617 Spanish. No abstract available.
[Review of 22 patients with 22q11.2 deletion syndrome: phenotype spectrum].
Ballesta Martínez MJ, Guillén Navarro E, López Expósito I, Bafalliu Vidal JA, Domingo Jiménez R, Guía Torrent JM, Robles Sánchez F, Sánchez Solís de Querol M. Ballesta Martínez MJ, et al. An Pediatr (Barc). 2008 Oct;69(4):304-10. doi: 10.1157/13126553. An Pediatr (Barc). 2008. PMID: 18928696 Free article. Spanish.
Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum.
Puig-Hervás MT, Temtamy S, Aglan M, Valencia M, Martínez-Glez V, Ballesta-Martínez MJ, López-González V, Ashour AM, Amr K, Pulido V, Guillén-Navarro E, Lapunzina P, Caparrós-Martín JA, Ruiz-Perez VL. Puig-Hervás MT, et al. Hum Mutat. 2012 Oct;33(10):1444-9. doi: 10.1002/humu.22133. Epub 2012 Jul 5. Hum Mutat. 2012. PMID: 22689593
Barth syndrome in adulthood: a clinical case.
Sabater-Molina M, Guillén-Navarro E, García-Molina E, Ballesta-Martínez MJ, Escudero F, Ruiz-Espejo F. Sabater-Molina M, et al. Rev Esp Cardiol (Engl Ed). 2013 Jan;66(1):68-70. doi: 10.1016/j.recesp.2012.05.015. Epub 2012 Sep 21. Rev Esp Cardiol (Engl Ed). 2013. PMID: 22999963 English, Spanish. No abstract available.
A new seipin-associated neurodegenerative syndrome.
Guillén-Navarro E, Sánchez-Iglesias S, Domingo-Jiménez R, Victoria B, Ruiz-Riquelme A, Rábano A, Loidi L, Beiras A, González-Méndez B, Ramos A, López-González V, Ballesta-Martínez MJ, Garrido-Pumar M, Aguiar P, Ruibal A, Requena JR, Araújo-Vilar D. Guillén-Navarro E, et al. J Med Genet. 2013 Jun;50(6):401-9. doi: 10.1136/jmedgenet-2013-101525. Epub 2013 Apr 6. J Med Genet. 2013. PMID: 23564749
148 results