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Page 1
[Prevalence and geographic distribution of the Wolf-Hirschhorn syndrome in Spain.].
Blanco Lago R, da Silva Mori X, Cristina BF, Málaga Diéguez I, Mori Álvarez MLÁ, Graña Barreiro N, Lapunzina Badía P, Nevado Blanco J. Blanco Lago R, et al. Among authors: lapunzina badia p. Rev Esp Salud Publica. 2022 Jun 8;96:e202206045. Rev Esp Salud Publica. 2022. PMID: 35703131 Free article. Spanish.
[Wolf-Hirschhorn syndrome. Description of five cases characterized by means of single nucleotide polymorphism microarrays].
Cammarata-Scalisi F, Blanco Lago R, Barruz Galián P, Lapunzina Badía P, Araque D, Da Silva G, Lacruz-Rengel MA, Avendaño A, Nevado Blanco J. Cammarata-Scalisi F, et al. Among authors: lapunzina badia p. Arch Argent Pediatr. 2019 Aug 1;117(4):e406-e412. doi: 10.5546/aap.2019.e406. Arch Argent Pediatr. 2019. PMID: 31339285 Free article. Spanish.
[Osteoporosis-pseudoglioma Syndrome: a pediatric case of primary osteoporosis].
Braslavsky D, Scaglia P, Sanguineti N, Aza-Carmona M, Nevado Blanco J, Lapunzina Badia PD, Fernández MDC, Ruiz O, Carmona A, Szlago M, Arberas C, Cassinelli H, Heath K, Rey R, Bergadá I. Braslavsky D, et al. Among authors: lapunzina badia pd. Arch Argent Pediatr. 2020 Jun;118(3):e300-e304. doi: 10.5546/aap.2020.e300. Arch Argent Pediatr. 2020. PMID: 32470270 Free article. Spanish.
A homozygous mutation in the highly conserved Tyr60 of the mature IGF1 peptide broadens the spectrum of IGF1 deficiency.
Keselman AC, Martin A, Scaglia PA, Sanguineti NM, Armando R, Gutiérrez M, Braslavsky D, Ballerini MG, Ropelato MG, Ramirez L, Landi E, Domené S, Castro JF, Cassinelli H, Casali B, Del Rey G, Barros ÁC, Nevado Blanco J, Domené H, Jasper H, Arberas C, Rey RA, Lapunzina-Badía P, Bergadá I, Pennisi PA. Keselman AC, et al. Among authors: lapunzina badia p. Eur J Endocrinol. 2019 Nov;181(5):K43-K53. doi: 10.1530/EJE-19-0563. Eur J Endocrinol. 2019. PMID: 31539878
Variable Expressivity of a Founder Mutation in the EIF2AK4 Gene in Hereditary Pulmonary Veno-occlusive Disease and Its Impact on Survival.
Navas Tejedor P, Palomino Doza J, Tenorio Castaño JA, Enguita Valls AB, Rodríguez Reguero JJ, Martínez Meñaca A, Hernández González I, Bueno Zamora H, Lapunzina Badía PD, Escribano Subías P. Navas Tejedor P, et al. Among authors: lapunzina badia pd. Rev Esp Cardiol (Engl Ed). 2018 Feb;71(2):86-94. doi: 10.1016/j.rec.2017.03.034. Epub 2017 Jul 9. Rev Esp Cardiol (Engl Ed). 2018. PMID: 28697925 English, Spanish.
[Holt-Oram syndrome: characterization of a novel mutation].
Fernández García-Moya L, Lapunzina Badía P, Delicado Navarro A, Sharif A, Cross G, Mori Alvarez MA, de Torres Perezhidalgo ML, Palomares Bralo M, García Sánchez P, García-Guereta Silva L, López Pajares I. Fernández García-Moya L, et al. Among authors: lapunzina badia p. An Pediatr (Barc). 2006 Jun;64(6):578-82. doi: 10.1157/13089924. An Pediatr (Barc). 2006. PMID: 16792966 Free article. Spanish.
[Clinical guide to the management of patients with Beckwith-Wiedemann syndrome].
Lapunzina Badía P, del Campo Casanelles M, Delicado Navarro A, Fernández-Toral J, García-Alix A, García-Guereta L, Pérez Jurado LA, Ramos Fuentes FJ, Sánchez Díaz A, Urioste Azcorra M. Lapunzina Badía P, et al. An Pediatr (Barc). 2006 Mar;64(3):252-9. doi: 10.1157/13085513. An Pediatr (Barc). 2006. PMID: 16527093 Free article. Spanish.
EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population.
Martínez-Romero MC, Ballesta-Martínez MJ, López-González V, Sánchez-Soler MJ, Serrano-Antón AT, Barreda-Sánchez M, Rodriguez-Peña L, Martínez-Menchon MT, Frías-Iniesta J, Sánchez-Pedreño P, Carbonell-Meseguer P, Glover-López G, Guillén-Navarro E; GIEDE (Spanish multidisciplinary research group for ectodermal dysplasia). Martínez-Romero MC, et al. Orphanet J Rare Dis. 2019 Dec 3;14(1):281. doi: 10.1186/s13023-019-1251-x. Orphanet J Rare Dis. 2019. PMID: 31796081 Free PMC article.