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Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16.
Zollino M, Lecce R, Murdolo M, Orteschi D, Marangi G, Selicorni A, Midro A, Sorge G, Zampino G, Memo L, Battaglia D, Petersen M, Pandelia E, Gyftodimou Y, Faravelli F, Tenconi R, Garavelli L, Mazzanti L, Fischetto R, Cavalli P, Savasta S, Rodriguez L, Neri G. Zollino M, et al. Among authors: rodriguez l. Hum Genet. 2007 Dec;122(5):423-30. doi: 10.1007/s00439-007-0412-5. Epub 2007 Aug 4. Hum Genet. 2007. PMID: 17676343
Detailed phenotype-genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader-Willi-like phenotype.
Bonaglia MC, Ciccone R, Gimelli G, Gimelli S, Marelli S, Verheij J, Giorda R, Grasso R, Borgatti R, Pagone F, Rodrìguez L, Martinez-Frias ML, van Ravenswaaij C, Zuffardi O. Bonaglia MC, et al. Among authors: rodriguez l. Eur J Hum Genet. 2008 Dec;16(12):1443-9. doi: 10.1038/ejhg.2008.119. Epub 2008 Jul 23. Eur J Hum Genet. 2008. PMID: 18648397
Molecular characterisation of a mosaicism with a complex chromosome rearrangement: evidence for coincident chromosome healing by telomere capture and neo-telomere formation.
Chabchoub E, Rodríguez L, Galán E, Mansilla E, Martínez-Fernandez ML, Martínez-Frías ML, Fryns JP, Vermeesch JR. Chabchoub E, et al. Among authors: rodriguez l. J Med Genet. 2007 Apr;44(4):250-6. doi: 10.1136/jmg.2006.045476. Epub 2006 Dec 15. J Med Genet. 2007. PMID: 17172463 Free PMC article.
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.
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
Be careful with familial unbalanced chromosome abnormalities!
Rodríguez L, Niebuhr E, García A, Martínez-Fernández ML, Peña Segura JL. Rodríguez L, et al. Am J Med Genet A. 2008 Aug 1;146A(15):2005-7. doi: 10.1002/ajmg.a.32383. Am J Med Genet A. 2008. PMID: 18627044 No abstract available.
Subtelomeric deletion of 12p: Description of a third case and review.
Macdonald AH, Rodríguez L, Aceña I, Martínez-Fernández ML, Sánchez-Izquierdo D, Zuazo E, Martínez-Frías ML. Macdonald AH, et al. Among authors: rodriguez l. Am J Med Genet A. 2010 Jun;152A(6):1561-6. doi: 10.1002/ajmg.a.33401. Am J Med Genet A. 2010. PMID: 20503336 Review.
3,616 results