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Page 1
Primary acid-labile subunit deficiency due to recessive IGFALS mutations results in postnatal growth deficit associated with low circulating insulin growth factor (IGF)-I, IGF binding protein-3 levels, and hyperinsulinemia.
Heath KE, Argente J, Barrios V, Pozo J, Díaz-González F, Martos-Moreno GA, Caimari M, Gracia R, Campos-Barros A. Heath KE, et al. Among authors: caimari m. J Clin Endocrinol Metab. 2008 May;93(5):1616-24. doi: 10.1210/jc.2007-2678. Epub 2008 Feb 26. J Clin Endocrinol Metab. 2008. PMID: 18303074
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: caimari m. 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
Human NR5A1/SF-1 mutations show decreased activity on BDNF (brain-derived neurotrophic factor), an important regulator of energy balance: testing impact of novel SF-1 mutations beyond steroidogenesis.
Malikova J, Camats N, Fernández-Cancio M, Heath K, González I, Caimarí M, del Campo M, Albisu M, Kolouskova S, Audí L, Flück CE. Malikova J, et al. Among authors: caimari m. PLoS One. 2014 Aug 14;9(8):e104838. doi: 10.1371/journal.pone.0104838. eCollection 2014. PLoS One. 2014. PMID: 25122490 Free PMC article.
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: caimari m. 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.
Structural pituitary abnormalities associated with CHARGE syndrome.
Gregory LC, Gevers EF, Baker J, Kasia T, Chong K, Josifova DJ, Caimari M, Bilan F, McCabe MJ, Dattani MT. Gregory LC, et al. Among authors: caimari m. J Clin Endocrinol Metab. 2013 Apr;98(4):E737-43. doi: 10.1210/jc.2012-3467. Epub 2013 Mar 22. J Clin Endocrinol Metab. 2013. PMID: 23526466 Free PMC article.
[Stippled epiphyses disease and alcoholic fetopathy].
Henales Villate V, Galiana C, Salvador M, Caimari M, del Valle JM. Henales Villate V, et al. Among authors: caimari m. An Esp Pediatr. 1986 Apr;24(4):272-4. An Esp Pediatr. 1986. PMID: 3755312 Spanish. No abstract available.
[Congenital giant hiatal hernia. Apropos of 2 cases].
Hervás JA, Bregante JI, Caimari M, Henales V, Boya E, Galiana C. Hervás JA, et al. Among authors: caimari m. An Esp Pediatr. 1988 Jan;28(1):82-4. An Esp Pediatr. 1988. PMID: 3348559 Spanish. No abstract available.
22 results