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Deletion 1q43-44 in a patient with clinical diagnosis of Warburg-Micro syndrome.
Arroyo-Carrera I, de Zaldívar Tristancho MS, Bermejo-Sánchez E, Martínez-Fernández ML, López-Lafuente A, MacDonald A, Zúñiga Á, Luis Gómez-Skarmeta J, Luisa Martínez-Frías M. Arroyo-Carrera I, et al. Am J Med Genet A. 2015 Jun;167(6):1243-51. doi: 10.1002/ajmg.a.36878. Epub 2015 Apr 21. Am J Med Genet A. 2015. PMID: 25899426
No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome.
Schlögel MJ, Mendola A, Fastré E, Vasudevan P, Devriendt K, de Ravel TJ, Van Esch H, Casteels I, Arroyo Carrera I, Cristofoli F, Fieggen K, Jones K, Lipson M, Balikova I, Singer A, Soller M, Mercedes Villanueva M, Revencu N, Boon LM, Brouillard P, Vikkula M. Schlögel MJ, et al. Among authors: arroyo carrera i. Orphanet J Rare Dis. 2015 May 2;10:52. doi: 10.1186/s13023-015-0271-4. Orphanet J Rare Dis. 2015. PMID: 25934493 Free PMC article.
[Apert syndrome: clinico-epidemiological analysis of a series of consecutive cases in Spain].
Arroyo Carrera I, Martínez-Frías ML, Marco Pérez JJ, Paisán Grisolía L, Cárdenes Rodríguez A, Nieto Conde C, Félix Rodríguez V, Egüés Jimeno JJ, Morales Fernández MC, Gómez-Ullate Vergara J, Pardo Romero M, Peñas Valiente A, Oliván del Cacho MJ, Lara Palma A. Arroyo Carrera I, et al. An Esp Pediatr. 1999 Dec;51(6):667-72. An Esp Pediatr. 1999. PMID: 10666902 Spanish.
Unusual congenital abdominal wall defect and review.
Arroyo Carrera I, Pitarch V, García MJ, Barrio AR, Martínez-Frías ML. Arroyo Carrera I, et al. Am J Med Genet A. 2003 Jun 1;119A(2):211-3. doi: 10.1002/ajmg.a.20112. Am J Med Genet A. 2003. PMID: 12749066
[RIT1: a novel gene associated with Noonan syndrome].
Arroyo-Carrera I, Solo de Zaldivar-Tristancho M, Martin-Fernandez R, Vera-Torres M, Gonzalez de Buitrago-Amigo JF, Botet-Rodriguez J. Arroyo-Carrera I, et al. Rev Neurol. 2016 Oct 16;63(8):358-362. Rev Neurol. 2016. PMID: 27699752 Free article. Spanish.
32 results