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Customized high resolution CGH-array for clinical diagnosis reveals additional genomic imbalances in previous well-defined pathological samples.
Vallespín E, Palomares Bralo M, Mori MÁ, Martín R, García-Miñaúr S, Fernández L, de Torres ML, García-Santiago F, Mansilla E, Santos F, M-Montaño VE, Crespo MC, Martín S, Martínez-Glez V, Delicado A, Lapunzina P, Nevado J. Vallespín E, et al. Among authors: mori ma. Am J Med Genet A. 2013 Aug;161A(8):1950-60. doi: 10.1002/ajmg.a.35960. Epub 2013 Jun 24. Am J Med Genet A. 2013. PMID: 23798500
Tetrasomy 8p: discordance of amniotic fluid and blood karyotypes.
López-Pajares I, Delicado A, Lapunzina P, Mori MA, De Torres ML, Aso S, Garcia Sanchez P. López-Pajares I, et al. Among authors: mori ma. Am J Med Genet A. 2003 May 1;118A(4):353-7. doi: 10.1002/ajmg.a.10988. Am J Med Genet A. 2003. PMID: 12687667
Euchromatic variant 16p+. Implications in prenatal diagnosis.
López Pajares I, Villa O, Salido M, Mori MA, Gonzalez A, Lapunzina P, De Torres ML, Vallcorba I, Palomares M, Fernández L, Delicado A. López Pajares I, et al. Among authors: mori ma. Prenat Diagn. 2006 Jun;26(6):535-8. doi: 10.1002/pd.1454. Prenat Diagn. 2006. PMID: 16634122
Mietens-Weber syndrome: two new patients and a review.
Martínez-Glez V, Lapunzina P, Delicado A, Tendero A, Mori MÁ, de Torres ML, Fernández L, Palomares M, Pajares IL. Martínez-Glez V, et al. Among authors: mori ma. Clin Dysmorphol. 2006 Jul;15(3):175-177. doi: 10.1097/01.mcd.0000204985.54366.a7. Clin Dysmorphol. 2006. PMID: 16760739 Review.
Unusual four-generation chromosome-22 rearrangement: when "normality" masks abnormality.
Nevado J, de Torres ML, Fernández L, Mori MA, Villa A, Palomares M, García-Santiago F, Mansilla E, García-Miñaur S, Delicado A, Lapunzina P. Nevado J, et al. Among authors: mori ma. Am J Med Genet A. 2009 Jul;149A(7):1561-4. doi: 10.1002/ajmg.a.32892. Am J Med Genet A. 2009. PMID: 19530191 No abstract available.
181 results