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Page 1
Unrelated chromosomal anomalies found in patients with suspected 22q11.2 deletion.
Fernández L, Lapunzina P, Pajares IL, Palomares M, Martínez I, Fernández B, Quero J, García-Guereta L, García-Alix A, Burgueros M, Galán-Gómez E, Carbonell-Pérez JM, Pérez-Granero A, Torres-Juan L, Heine-Suñer D, Rosell J, Delicado A. Fernández L, et al. Among authors: carbonell perez jm. Am J Med Genet A. 2008 May 1;146A(9):1134-41. doi: 10.1002/ajmg.a.32256. Am J Med Genet A. 2008. PMID: 18384142
[Partial trisomy 18q due to maternal reciprocal translocation 4;18].
Sáenz Hurtado J, Galán Gómez E, Carbonell Pérez J, Villa Milla A, Rodríguez Martínez L, Agulla Rodiño E, Cardesa García J. Sáenz Hurtado J, et al. An Esp Pediatr. 2001 Jul;55(1):61-6. An Esp Pediatr. 2001. PMID: 11412471 Spanish.
[Diagnosis of 9p- syndrome at birth. A new case].
Fernández Calderón E, Galán Gómez E, Carbonell Pérez JM, Sáenz Hurtado J, Ledesma Alcázar MC, Cardesa García JJ. Fernández Calderón E, et al. Among authors: carbonell perez jm. An Pediatr (Barc). 2004 Aug;61(2):194-6. doi: 10.1016/s1695-4033(04)78388-5. An Pediatr (Barc). 2004. PMID: 15274895 Free article. Spanish. No abstract available.
Distinct mechanism of formation of the 48, XXYY karyotype.
Balsera AM, Estévez MN, Beltrán EB, Sánchez-Giralt P, García LG, Moreno TH, García de Cáceres M, Carbonell Pérez JM, Gómez EG, Rodríguez-López R. Balsera AM, et al. Among authors: carbonell perez jm. Mol Cytogenet. 2013 Jul 3;6(1):25. doi: 10.1186/1755-8166-6-25. Mol Cytogenet. 2013. PMID: 23822881 Free PMC article.