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Page 1
Germinal mosaicism in Simpson-Golabi-Behmel syndrome.
Romanelli V, Arroyo I, Rodriguez JI, Magano L, Arias P, Incera I, Gracia-Bouthelier R, Lapunzina P. Romanelli V, et al. Clin Genet. 2007 Oct;72(4):384-6. doi: 10.1111/j.1399-0004.2007.00871.x. Clin Genet. 2007. PMID: 17850639 No abstract available.
Follow-up and risk of tumors in overgrowth syndromes.
Gracia Bouthelier R, Lapunzina P. Gracia Bouthelier R, et al. 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.
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: gracia bouthelier r. 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.
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: gracia bouthelier r. 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.
[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.
[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: gracia bouthelier r. 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.
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. 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.
[Macroorchidism: a case report].
Alvarez-Acevedo García M, Molina Rodríguez MA, González Casado I, Nistal Martín de Serrano M, Gracia Bouthelier R. Alvarez-Acevedo García M, et al. An Pediatr (Barc). 2006 Jan;64(1):89-92. doi: 10.1016/s1695-4033(06)70015-7. An Pediatr (Barc). 2006. PMID: 16539923 Free article. Spanish.
44 results