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De novo 10q23 interstitial deletion.
Mori MA, Gomez-Sabrido F, Diaz de Bustamante A, Pinel I, Martinez-Frias ML. Mori MA, et al. J Med Genet. 1988 Mar;25(3):209-10. doi: 10.1136/jmg.25.3.209. J Med Genet. 1988. PMID: 3351911 Free PMC article. No abstract available.
An unusual variant of chromosome 16. Two new cases.
Pinel I, Diaz de Bustamante A, Urioste M, Felix V, Ureta A, Martinez-Frías ML. Pinel I, et al. Hum Genet. 1988 Oct;80(2):194. doi: 10.1007/BF00702870. Hum Genet. 1988. PMID: 3169745
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
Three new cases with a supernumerary ring chromosome 1.
Rodríguez L, Starke H, Guardia NM, Tönnies H, Neitzel H, Kozlowski P, Mazauric ML, Heller A, Grondona FL, Mansilla E, Santos Muñoz MJ, Liehr T, Martínez-Frías ML. Rodríguez L, et al. Clin Dysmorphol. 2005 Oct;14(4):169-175. Clin Dysmorphol. 2005. PMID: 16155417
286 results