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Page 1
Delineation of the clinical and radiological features of Stuve-Wiedemann syndrome childhood survivors, four new cases and review of the literature.
Siccha SM, Cueto AM, Parrón-Pajares M, González-Morán G, Pacio-Miguez M, Del Pozo Á, Solís M, Rodriguez-Jimenez C, Caino S, Fano V, Heath KE, García-Miñaúr S, Palomares-Bralo M, Santos-Simarro F. Siccha SM, et al. Am J Med Genet A. 2021 Mar;185(3):856-865. doi: 10.1002/ajmg.a.62010. Epub 2020 Dec 11. Am J Med Genet A. 2021. PMID: 33305909 Review.
A new variant in PHKA2 is associated with glycogen storage disease type IXa.
Rodríguez-Jiménez C, Santos-Simarro F, Campos-Barros Á, Camarena C, Lledín D, Vallespín E, Del Pozo Á, Mena R, Lapunzina P, Rodríguez-Nóvoa S. Rodríguez-Jiménez C, et al. Mol Genet Metab Rep. 2017 Jan 12;10:52-55. doi: 10.1016/j.ymgmr.2017.01.003. eCollection 2017 Mar. Mol Genet Metab Rep. 2017. PMID: 28116244 Free PMC article.
Broadening the phenotypic spectrum of EVEN-PLUS syndrome through identification of HSPA9 pathogenic variants in the original EVE dysplasia family and two sibs with milder facial phenotype.
Pacio-Miguez M, Parrón-Pajares M, Gordon CT, Santos-Simarro F, Rodríguez Jiménez C, Mena R, Rueda Arenas I, F Montaño VE, Fernández M, Solís M, Del Pozo Á, Amiel J, García-Miñaur S, Palomares-Bralo M. Pacio-Miguez M, et al. Am J Med Genet A. 2022 Sep;188(9):2819-2824. doi: 10.1002/ajmg.a.62883. Epub 2022 Jul 2. Am J Med Genet A. 2022. PMID: 35779070
Whole Exome Sequencing of 20 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Cataracts.
Rodríguez-Solana P, Arruti N, Nieves-Moreno M, Mena R, Rodríguez-Jiménez C, Guerrero-Carretero M, Acal JC, Blasco J, Peralta JM, Del Pozo Á, Montaño VEF, Dios-Blázquez L, Fernández-Alcalde C, González-Atienza C, Sánchez-Cazorla E, Gómez-Cano MLÁ, Delgado-Mora L, Noval S, Vallespín E. Rodríguez-Solana P, et al. Int J Mol Sci. 2023 Jul 13;24(14):11429. doi: 10.3390/ijms241411429. Int J Mol Sci. 2023. PMID: 37511188 Free PMC article.
Whole-Exome Sequencing of 21 Families: Candidate Genes for Early-Onset High Myopia.
Sánchez-Cazorla E, González-Atienza C, López-Vázquez A, Arruti N, Nieves-Moreno M, Noval S, Mena R, Rodríguez-Jiménez C, Rodríguez-Solana P, González-Iglesias E, Guerrero-Carretero M, D'Anna Mardero O, Coca-Robinot J, Acal JC, Blasco J, Castañeda C, Fraile Maya J, Del Pozo Á, Gómez-Pozo MV, Montaño VEF, Dios-Blázquez L, Rodríguez-Antolín C, Gómez-Cano MLÁ, Delgado-Mora L, Vallespín E. Sánchez-Cazorla E, et al. Int J Mol Sci. 2023 Oct 27;24(21):15676. doi: 10.3390/ijms242115676. Int J Mol Sci. 2023. PMID: 37958660 Free PMC article.
Hereditary spastic paraplegia associated with a novel homozygous intronic noncanonical splice site variant in the AP4B1 gene.
Gómez-González C, Pizarro-Sánchez C, Rodríguez-Antolín C, Pascual-Pascual I, Garcia-Romero M, Rodriguez-Jiménez C, de Sancho-Martín R, Del Pozo-Mate Á, Solís-López M, Prior-de Castro C, Torres RJ. Gómez-González C, et al. Ann Hum Genet. 2022 May;86(3):109-118. doi: 10.1111/ahg.12455. Epub 2021 Dec 20. Ann Hum Genet. 2022. PMID: 34927723
A new variant (c.1A>G) in LDLRAP1 causing autosomal recessive hypercholesterolemia: Characterization of the defect and response to PCSK9 inhibition.
Rodríguez-Jiménez C, Gómez-Coronado D, Frías Vargas M, Cerrato F, Lahoz C, Saban-Ruiz J, González-Nieto D, Lasunción MA, Mostaza JM, Rodríguez-Nóvoa S. Rodríguez-Jiménez C, et al. Atherosclerosis. 2019 May;284:223-229. doi: 10.1016/j.atherosclerosis.2019.01.010. Epub 2019 Jan 25. Atherosclerosis. 2019. PMID: 30777337
Functional analysis of new variants at the low-density lipoprotein receptor associated with familial hypercholesterolemia.
Rodríguez-Jiménez C, Pernía O, Mostaza J, Rodríguez-Antolín C, de Dios García-Díaz J, Alonso-Cerezo C, García-Polo I, Blanco A, Lahoz C, Arrieta F, Beltrán L, Díaz de Bustamante A, Garzón-Lorenzo L, Álvarez-Sala LA, Asenjo Á, Ibáñez de Cáceres I, Rodríguez-Nóvoa S. Rodríguez-Jiménez C, et al. Hum Mutat. 2019 Aug;40(8):1181-1190. doi: 10.1002/humu.23801. Epub 2019 Jun 18. Hum Mutat. 2019. PMID: 31106925
48 results