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Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases.
Blackburn PR, Zepeda-Mendoza CJ, Kruisselbrink TM, Schimmenti LA, García-Miñaur S, Palomares M, Nevado J, Mori MA, Le Meur G, Klee EW, Le Caignec C, Lapunzina P, Isidor B, Babovic-Vuksanovic D. Blackburn PR, et al. Among authors: lapunzina p. Eur J Hum Genet. 2019 Sep;27(9):1379-1388. doi: 10.1038/s41431-019-0423-4. Epub 2019 May 3. Eur J Hum Genet. 2019. PMID: 31053785 Free PMC article. Review.
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: lapunzina p. 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: lapunzina p. 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: lapunzina p. Clin Dysmorphol. 2006 Jul;15(3):175-177. doi: 10.1097/01.mcd.0000204985.54366.a7. Clin Dysmorphol. 2006. PMID: 16760739 Review.
296 results