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Page 1
[Autosomal dominant osteopetrosis: a presentation of 3 cases and a new gene mutation].
Janer Subías E, de Arriba Muñoz A, García Iñiguez JP, Ferrer Lozano M, Sanchez Del Pozo J, Labarta Aizpun JI. Janer Subías E, et al. Among authors: sanchez del pozo j. An Pediatr (Barc). 2015 Jan;82(1):e35-8. doi: 10.1016/j.anpedi.2014.03.014. Epub 2014 Jun 2. An Pediatr (Barc). 2015. PMID: 24882046 Free article. Spanish.
[Hypoglycaemia: An unusual initial presentation of a liver tumour].
Rubio-San-Simón A, Román Mendoza N, Nova Lozano C, Sánchez Del Pozo J, Guerra García P. Rubio-San-Simón A, et al. Among authors: sanchez del pozo j. An Pediatr (Engl Ed). 2019 Jul;91(1):64-65. doi: 10.1016/j.anpedi.2018.06.003. Epub 2018 Jul 7. An Pediatr (Engl Ed). 2019. PMID: 31280818 Free article. Spanish. No abstract available.
Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study.
García Castaño A, Pérez de Nanclares G, Madariaga L, Aguirre M, Chocron S, Madrid A, Lafita Tejedor FJ, Gil Campos M, Sánchez Del Pozo J, Ruiz Cano R, Espino M, Gomez Vida JM, Santos F, García Nieto VM, Loza R, Rodríguez LM, Hidalgo Barquero E, Printza N, Camacho JA, Castaño L, Ariceta G; RenalTube Group. García Castaño A, et al. Among authors: sanchez del pozo j. Eur J Pediatr. 2015 Oct;174(10):1373-85. doi: 10.1007/s00431-015-2534-4. Epub 2015 Apr 23. Eur J Pediatr. 2015. PMID: 25902753
[Ambiguous genitalia in newborn: Mixed gonadal dysgenesis?].
Oviedo-Melgares L, Soriano-Ramos M, Sánchez Del Pozo J, Vázquez-Román S. Oviedo-Melgares L, et al. Among authors: sanchez del pozo j. An Pediatr (Engl Ed). 2019 Sep;91(3):207-208. doi: 10.1016/j.anpedi.2018.04.015. Epub 2018 Jun 14. An Pediatr (Engl Ed). 2019. PMID: 29866500 Free article. Spanish. No abstract available.
Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants.
Sentchordi-Montané L, Benito-Sanz S, Aza-Carmona M, Pereda A, Parrón-Pajares M, de la Torre C, Vasques GA, Funari MFA, Travessa AM, Dias P, Suarez-Ortega L, González-Buitrago J, Portillo-Najera NE, Llano-Rivas I, Martín-Frías M, Ramírez-Fernández J, Sánchez Del Pozo J, Garzón-Lorenzo L, Martos-Moreno GA, Alfaro-Iznaola C, Mulero-Collantes I, Ruiz-Ocaña P, Casano-Sancho P, Portela A, Ruiz-Pérez L, Del Pozo A, Vallespín E, Solís M, Lerario AM, González-Casado I, Ros-Pérez P, Pérez de Nanclares G, Jorge AAL, Heath KE. Sentchordi-Montané L, et al. Among authors: sanchez del pozo j. J Clin Endocrinol Metab. 2020 Aug 1;105(8):dgaa218. doi: 10.1210/clinem/dgaa218. J Clin Endocrinol Metab. 2020. PMID: 32311039
[WAGR syndrome: a case report].
Moreno García M, Sánchez del Pozo J, Fernández Martínez FJ, Moreno-Izquierdo A, Barreiro Miranda E. Moreno García M, et al. Among authors: sanchez del pozo j. An Esp Pediatr. 1998 Oct;49(4):381-7. An Esp Pediatr. 1998. PMID: 9859552 Spanish.
[A case of inverted tandem partial duplication of 12p].
Moreno García M, Sánchez del Pozo J, Barreiro Miranda E. Moreno García M, et al. Among authors: sanchez del pozo j. An Esp Pediatr. 1999 Feb;50(2):181-4. An Esp Pediatr. 1999. PMID: 10199032 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. Among authors: del campo m, del valle j, sanchez del pozo j. 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.
Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants.
Paumard-Hernández B, Berges-Soria J, Barroso E, Rivera-Pedroza CI, Pérez-Carrizosa V, Benito-Sanz S, López-Messa E, Santos F, García-Recuero II, Romance A, Ballesta-Martínez JM, López-González V, Campos-Barros Á, Cruz J, Guillén-Navarro E, Sánchez Del Pozo J, Lapunzina P, García-Miñaur S, Heath KE. Paumard-Hernández B, et al. Among authors: sanchez del pozo j. Eur J Hum Genet. 2015 Jul;23(7):907-14. doi: 10.1038/ejhg.2014.205. Epub 2014 Oct 1. Eur J Hum Genet. 2015. PMID: 25271085 Free PMC article.
40 results