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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. 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. 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.
Individualised vs fixed dose of oral 17β-oestradiol for induction of puberty in girls with Turner syndrome: an open-randomised parallel trial.
Labarta JI, Moreno ML, López-Siguero JP, Luzuriaga C, Rica I, Sánchez-del Pozo J, Gracia-Bouthelier R; Spanish Turner working group. Labarta JI, et al. Among authors: gracia bouthelier r. Eur J Endocrinol. 2012 Oct;167(4):523-9. doi: 10.1530/EJE-12-0444. Epub 2012 Jul 17. Eur J Endocrinol. 2012. PMID: 22807477 Clinical Trial.
[Idiopathic short stature. A literature review and update].
Carrascosa A, Fernández Longás A, Gracia Bouthelier R, López Siguero JP, Pombo Arias M, Yturriaga R; Grupo Español de Consenso. Carrascosa A, et al. Among authors: gracia bouthelier r. An Pediatr (Barc). 2011 Sep;75(3):204.e1-11. doi: 10.1016/j.anpedi.2011.05.007. An Pediatr (Barc). 2011. PMID: 21723798 Free article. Review. Spanish.
[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.
Impact of heterozygosity for acid-labile subunit (IGFALS) gene mutations on stature: results from the international acid-labile subunit consortium.
Fofanova-Gambetti OV, Hwa V, Wit JM, Domene HM, Argente J, Bang P, Högler W, Kirsch S, Pihoker C, Chiu HK, Cohen L, Jacobsen C, Jasper HG, Haeusler G, Campos-Barros A, Gallego-Gómez E, Gracia-Bouthelier R, van Duyvenvoorde HA, Pozo J, Rosenfeld RG. Fofanova-Gambetti OV, et al. Among authors: gracia bouthelier r. J Clin Endocrinol Metab. 2010 Sep;95(9):4184-91. doi: 10.1210/jc.2010-0489. Epub 2010 Jun 30. J Clin Endocrinol Metab. 2010. PMID: 20591980
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.
[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.
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.
44 results