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Partial monosomy 15q due to de novo t(15;22)(q15;p11).
Mori MA, Rodriguez L, Pinel I, Casas JM, Diaz de Bustamante A, Martinez-Frias ML. Mori MA, et al. Among authors: rodriguez l. Ann Genet. 1987;30(4):246-8. Ann Genet. 1987. PMID: 3322163 Review.
Limb deficiencies in infants with trisomy 13.
Martínez-Frías ML, Villa A, de Pablo RA, Ayala A, Calvo MJ, Bermejo E, Rodríguez L. Martínez-Frías ML, et al. Among authors: rodriguez l. Am J Med Genet. 2000 Aug 14;93(4):339-41. doi: 10.1002/1096-8628(20000814)93:4<339::aid-ajmg15>3.0.co;2-r. Am J Med Genet. 2000. PMID: 10946363
Ring chromosome 7 and sacral agenesis.
Rodríguez L, Sanchís A, Villa A, Cánovas A, Peris S, Estívalis M, Pons S, Martínez-Frías ML. Rodríguez L, et al. Am J Med Genet. 2000 Sep 4;94(1):52-8. doi: 10.1002/1096-8628(20000904)94:1<52::aid-ajmg11>3.0.co;2-q. Am J Med Genet. 2000. PMID: 10982483
It is necessary to perform high-resolution band chromosomes in any child with malformations, before making a diagnosis or establishing a possible relationship with any risk factor.
Martínez-Frías ML, Rodríguez L, Bermejo E, López F, Rodríguez-Pinilla E. Martínez-Frías ML, et al. Among authors: rodriguez pinilla e, rodriguez l. Am J Med Genet. 2001 Jun 1;101(1):80-1. doi: 10.1002/ajmg.1299. Am J Med Genet. 2001. PMID: 11343346 No abstract available.
Pure partial trisomy 7q: two new patients and review.
Rodríguez L, López F, Paisán L, de la Red Mdel M, Ruiz AM, Blanco M, Antelo Cortizas J, Martínez-Frías ML. Rodríguez L, et al. Am J Med Genet. 2002 Nov 22;113(2):218-24. doi: 10.1002/ajmg.10719. Am J Med Genet. 2002. PMID: 12407716 Review.
3,616 results