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A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review.
Fernández L, Nevado J, Santos F, Heine-Suñer D, Martinez-Glez V, García-Miñaur S, Palomo R, Delicado A, Pajares IL, Palomares M, García-Guereta L, Valverde E, Hawkins F, Lapunzina P. Fernández L, et al. Among authors: palomares m. BMC Med Genet. 2009 Jun 2;10:48. doi: 10.1186/1471-2350-10-48. BMC Med Genet. 2009. PMID: 19490635 Free PMC article. Review.
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: palomares m. 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: palomares m. Clin Dysmorphol. 2006 Jul;15(3):175-177. doi: 10.1097/01.mcd.0000204985.54366.a7. Clin Dysmorphol. 2006. PMID: 16760739 Review.
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: palomares m. 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
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: palomares m. 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.
FOXL2 copy number changes in the molecular pathogenesis of BPES: unique cohort of 17 deletions.
D'haene B, Nevado J, Pugeat M, Pierquin G, Lowry RB, Reardon W, Delicado A, García-Miñaur S, Palomares M, Courtens W, Stefanova M, Wallace S, Watkins W, Shelling AN, Wieczorek D, Veitia RA, De Paepe A, Lapunzina P, De Baere E. D'haene B, et al. Among authors: palomares m. Hum Mutat. 2010 May;31(5):E1332-47. doi: 10.1002/humu.21233. Hum Mutat. 2010. PMID: 20232352
113 results