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Beckwith-Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques.
Romanelli V, Meneses HN, Fernández L, Martínez-Glez V, Gracia-Bouthelier R, F Fraga M, Guillén E, Nevado J, Gean E, Martorell L, Marfil VE, García-Miñaur S, Lapunzina P. Romanelli V, et al. Among authors: lapunzina p. Eur J Hum Genet. 2011 Apr;19(4):416-21. doi: 10.1038/ejhg.2010.236. Epub 2011 Jan 19. Eur J Hum Genet. 2011. PMID: 21248736 Free PMC article.
[Crouzon's syndrome with acanthosis nigricans].
Lapunzina P, Fernández MC, Varela Junquera JM, Arberas C, Tello AM, Gracia Bouthelier R. Lapunzina P, et al. An Esp Pediatr. 2002 Apr;56(4):342-6. An Esp Pediatr. 2002. PMID: 11927079 Spanish.
Follow-up and risk of tumors in overgrowth syndromes.
Gracia Bouthelier R, Lapunzina P. Gracia Bouthelier R, et al. Among authors: lapunzina p. J Pediatr Endocrinol Metab. 2005 Dec;18 Suppl 1:1227-35. doi: 10.1515/jpem.2005.18.s1.1227. J Pediatr Endocrinol Metab. 2005. PMID: 16398453 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: 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.
284 results