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Page 1
Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development.
Audi L, Fernández-Cancio M, Carrascosa A, Andaluz P, Torán N, Piró C, Vilaró E, Vicens-Calvet E, Gussinyé M, Albisu MA, Yeste D, Clemente M, Hernández de la Calle I, Del Campo M, Vendrell T, Blanco A, Martínez-Mora J, Granada ML, Salinas I, Forn J, Calaf J, Angerri O, Martínez-Sopena MJ, Del Valle J, García E, Gracia-Bouthelier R, Lapunzina P, Mayayo E, Labarta JI, Lledó G, Sánchez Del Pozo J, Arroyo J, Pérez-Aytes A, Beneyto M, Segura A, Borrás V, Gabau E, Caimarí M, Rodríguez A, Martínez-Aedo MJ, Carrera M, Castaño L, Andrade M, Bermúdez de la Vega JA; Grupo de Apoyo al Síndrome de Insensibilidad a los Andrógenos (GrApSIA). Audi L, et al. Among authors: lapunzina p. J Clin Endocrinol Metab. 2010 Apr;95(4):1876-88. doi: 10.1210/jc.2009-2146. Epub 2010 Feb 11. J Clin Endocrinol Metab. 2010. PMID: 20150575 Free article.
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.
Clinical and molecular evaluation of SHOX/PAR1 duplications in Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS).
Benito-Sanz S, Barroso E, Heine-Suñer D, Hisado-Oliva A, Romanelli V, Rosell J, Aragones A, Caimari M, Argente J, Ross JL, Zinn AR, Gracia R, Lapunzina P, Campos-Barros A, Heath KE. Benito-Sanz S, et al. Among authors: lapunzina p. J Clin Endocrinol Metab. 2011 Feb;96(2):E404-12. doi: 10.1210/jc.2010-1689. Epub 2010 Dec 8. J Clin Endocrinol Metab. 2011. PMID: 21147883
[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.
CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms.
Romanelli V, Belinchón A, Benito-Sanz S, Martínez-Glez V, Gracia-Bouthelier R, Heath KE, Campos-Barros A, García-Miñaur S, Fernandez L, Meneses H, López-Siguero JP, Guillén-Navarro E, Gómez-Puertas P, Wesselink JJ, Mercado G, Esteban-Marfil V, Palomo R, Mena R, Sánchez A, Del Campo M, Lapunzina P. Romanelli V, et al. Among authors: lapunzina p. Am J Med Genet A. 2010 Jun;152A(6):1390-7. doi: 10.1002/ajmg.a.33453. Am J Med Genet A. 2010. PMID: 20503313 Review.
[Hypoglycaemia due to persistent hyperinsulinism in a patient with Sotos syndrome].
González Casado I, De la PuenteArévalo A, López Moreira O, Lapunzina P, Gracia Bouthelier R. González Casado I, et al. Among authors: lapunzina p. An Pediatr (Barc). 2012 Apr;76(4):232-4. doi: 10.1016/j.anpedi.2011.11.004. Epub 2011 Dec 27. An Pediatr (Barc). 2012. PMID: 22206879 Free article. Spanish. No abstract available.
Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients.
Tenorio J, Alarcón P, Arias P, Dapía I, García-Miñaur S, Palomares Bralo M, Campistol J, Climent S, Valenzuela I, Ramos S, Monseny AM, Grondona FL, Botet J, Serrano M, Solís M, Santos-Simarro F, Álvarez S, Teixidó-Tura G, Fernández Jaén A, Gordo G, Bardón Rivera MB, Nevado J, Hernández A, Cigudosa JC, Ruiz-Pérez VL, Tizzano EF; SOGRI Consortium; Lapunzina P. Tenorio J, et al. Among authors: lapunzina p. Eur J Hum Genet. 2020 Apr;28(4):469-479. doi: 10.1038/s41431-019-0485-3. Epub 2019 Nov 4. Eur J Hum Genet. 2020. PMID: 31685998 Free PMC article.
Molecular characterization of Spanish patients with MECP2 duplication syndrome.
Pascual-Alonso A, Blasco L, Vidal S, Gean E, Rubio P, O'Callaghan M, Martínez-Monseny AF, Castells AA, Xiol C, Català V, Brandi N, Pacheco P, Ros C, Del Campo M, Guillén E, Ibañez S, Sánchez MJ, Lapunzina P, Nevado J, Santos F, Lloveras E, Ortigoza-Escobar JD, Tejada MI, Maortua H, Martínez F, Orellana C, Roselló M, Mesas MA, Obón M, Plaja A, Fernández-Ramos JA, Tizzano E, Marín R, Peña-Segura JL, Alcántara S, Armstrong J. Pascual-Alonso A, et al. Among authors: lapunzina p. Clin Genet. 2020 Apr;97(4):610-620. doi: 10.1111/cge.13718. Epub 2020 Feb 23. Clin Genet. 2020. PMID: 32043567
296 results