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Page 1
FGF9 mutation causes craniosynostosis along with multiple synostoses.
Rodriguez-Zabala M, Aza-Carmona M, Rivera-Pedroza CI, Belinchón A, Guerrero-Zapata I, Barraza-García J, Vallespin E, Lu M, Del Pozo A, Glucksman MJ, Santos-Simarro F, Heath KE. Rodriguez-Zabala M, et al. Among authors: rivera pedroza ci. Hum Mutat. 2017 Nov;38(11):1471-1476. doi: 10.1002/humu.23292. Epub 2017 Jul 25. Hum Mutat. 2017. PMID: 28730625
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: rivera pedroza ci. 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.
Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia.
Barraza-García J, Rivera-Pedroza CI, Hisado-Oliva A, Belinchón-Martínez A, Sentchordi-Montané L, Duncan EL, Clark GR, Del Pozo A, Ibáñez-Garikano K, Offiah A, Prieto-Matos P, Cormier-Daire V, Heath KE. Barraza-García J, et al. Among authors: rivera pedroza ci. Clin Genet. 2017 Jul;92(1):91-98. doi: 10.1111/cge.12964. Epub 2017 Feb 22. Clin Genet. 2017. PMID: 28067412 Free article.
Identification of the fourth duplication of upstream IHH regulatory elements, in a family with craniosynostosis Philadelphia type, helps to define the phenotypic characterization of these regulatory elements.
Barroso E, Berges-Soria J, Benito-Sanz S, Rivera-Pedroza CI, Ballesta-Martínez MJ, López-González V, Guillen-Navarro E, Heath KE. Barroso E, et al. Among authors: rivera pedroza ci. Am J Med Genet A. 2015 Apr;167A(4):902-6. doi: 10.1002/ajmg.a.36811. Epub 2015 Feb 18. Am J Med Genet A. 2015. PMID: 25692887 No abstract available.
Reply to the article entitled "Identification of an 18 bp deletion in the TWIST1 gene by CO-amplification at lower denaturation temperature-PCR (COLD-PCR) for non-invasive prenatal diagnosis of craniosynostosis: first case report" by Galbiati et al., Clin Chem Lab Med 2014;52(4):505-9.
Rivera-Pedroza CI, Heath KE. Rivera-Pedroza CI, et al. Clin Chem Lab Med. 2014 Jul;52(7):e127-8. doi: 10.1515/cclm-2013-1076. Clin Chem Lab Med. 2014. PMID: 24477518 No abstract available.
[Sjögren-Larsson syndrome: Pediatric case report].
García-Ortiz L, Gómez-López R, Rivera-Pedroza CI, Santillán-Hernández Y, Chima-Galán MDC, Gutiérrez-Salinas J. García-Ortiz L, et al. Among authors: rivera pedroza ci. Arch Argent Pediatr. 2018 Dec 1;116(6):e773-e777. doi: 10.5546/aap.2018.e773. Arch Argent Pediatr. 2018. PMID: 30457735 Free article. Spanish.
Severe phenotype in two half-sibs with Adams Oliver syndrome.
Sevilla-Montoya R, Ríos-Flores B, Moreno-Verduzco E, Domínguez-Castro M, Rivera-Pedroza CI, Aguinaga-Ríos DM. Sevilla-Montoya R, et al. Among authors: rivera pedroza ci. Arch Argent Pediatr. 2014 Jun;112(3):e108-12. doi: 10.5546/aap.2014.eng.e108. Arch Argent Pediatr. 2014. PMID: 24862819 Free article. English, Spanish.