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Pitfalls of trio-based exome sequencing: imprinted genes and parental mosaicism-MAGEL2 as an example.
Palomares-Bralo M, Vallespín E, Del Pozo Á, Ibañez K, Silla JC, Galán E, Gordo G, Martínez-Glez V, Alba-Valdivia LI, Heath KE, García-Miñaúr S, Lapunzina P, Santos-Simarro F. Palomares-Bralo M, et al. Among authors: lapunzina p. Genet Med. 2017 Nov;19(11):1285-1286. doi: 10.1038/gim.2017.42. Epub 2017 Apr 27. Genet Med. 2017. PMID: 28640240 Free article. No abstract available.
Craniofacial dyssynostosis: description of the first four Spanish cases and review.
Bermejo E, Félix V, Lapunzina P, Galán E, Soler V, Delicado A, Pantoja A, Márquez MD, García M, Mora E, Cuevas L, Ureta A, López-Pajares I, Martínez-Frías ML. Bermejo E, et al. Among authors: lapunzina p. Am J Med Genet A. 2005 Jan 1;132A(1):41-8. doi: 10.1002/ajmg.a.30380. Am J Med Genet A. 2005. PMID: 15551327 Review.
New findings in craniofacial dyssynostosis.
Bermejo E, Lapunzina P, Galán E, Félix V, Soler V, Martínez-Frias ML. Bermejo E, et al. Among authors: lapunzina p. Am J Med Genet A. 2005 Apr 30;134(3):344-5. doi: 10.1002/ajmg.a.30632. Am J Med Genet A. 2005. PMID: 15723305 No abstract available.
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: lapunzina p. Clin Dysmorphol. 2006 Jul;15(3):175-177. doi: 10.1097/01.mcd.0000204985.54366.a7. Clin Dysmorphol. 2006. PMID: 16760739 Review.
Sotos syndrome is associated with leukemia/lymphoma.
Martínez-Glez V, Lapunzina P. Martínez-Glez V, et al. Among authors: lapunzina p. Am J Med Genet A. 2007 Jun 1;143A(11):1244-5. doi: 10.1002/ajmg.a.31727. Am J Med Genet A. 2007. PMID: 17480008 No abstract available.
Direct tandem duplication in chromosome 19q characterized by array CGH.
Palomares Bralo M, Delicado A, Lapunzina P, Velázquez Fragua R, Villa O, Angeles Mori M, Luisa de Torres M, Fernández L, Pérez Jurado LA, López Pajares I. Palomares Bralo M, et al. Among authors: lapunzina p. Eur J Med Genet. 2008 May-Jun;51(3):257-63. doi: 10.1016/j.ejmg.2008.01.003. Epub 2008 Feb 2. Eur J Med Genet. 2008. PMID: 18342596
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: lapunzina p. 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.
297 results