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Hypo- and hypermorphic FOXC1 mutations in dominant glaucoma: transactivation and phenotypic variability.
PLoS One. 2015 Mar 18;10(3):e0119272. doi: 10.1371/journal.pone.0119272. eCollection 2015.
PLoS One. 2015.
PMID: 25786029
Free PMC article.
The Role of hsa-miR-548l Dysregulation as a Putative Modifier Factor for Glaucoma-Associated FOXC1 Mutations.
Medina-Trillo C, Aroca-Aguilar JD, Ferre-Fernández JJ, Méndez-Hernández CD, Morales L, García-Feijoo J, Escribano J.
Medina-Trillo C, et al.
Microrna. 2015;4(1):50-6. doi: 10.2174/2211536604666150320234654.
Microrna. 2015.
PMID: 25809640
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Rare FOXC1 variants in congenital glaucoma: identification of translation regulatory sequences.
Medina-Trillo C, Aroca-Aguilar JD, Méndez-Hernández CD, Morales L, García-Antón M, García-Feijoo J, Escribano J.
Medina-Trillo C, et al.
Eur J Hum Genet. 2016 May;24(5):672-80. doi: 10.1038/ejhg.2015.169. Epub 2015 Jul 29.
Eur J Hum Genet. 2016.
PMID: 26220699
Free PMC article.
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Whole-Exome Sequencing of Congenital Glaucoma Patients Reveals Hypermorphic Variants in GPATCH3, a New Gene Involved in Ocular and Craniofacial Development.
Ferre-Fernández JJ, Aroca-Aguilar JD, Medina-Trillo C, Bonet-Fernández JM, Méndez-Hernández CD, Morales-Fernández L, Corton M, Cabañero-Valera MJ, Gut M, Tonda R, Ayuso C, Coca-Prados M, García-Feijoo J, Escribano J.
Ferre-Fernández JJ, et al. Among authors: medina trillo c.
Sci Rep. 2017 Apr 11;7:46175. doi: 10.1038/srep46175.
Sci Rep. 2017.
PMID: 28397860
Free PMC article.
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Role of FOXC2 and PITX2 rare variants associated with mild functional alterations as modifier factors in congenital glaucoma.
Medina-Trillo C, Aroca-Aguilar JD, Ferre-Fernández JJ, Alexandre-Moreno S, Morales L, Méndez-Hernández CD, García-Feijoo J, Escribano J.
Medina-Trillo C, et al.
PLoS One. 2019 Jan 18;14(1):e0211029. doi: 10.1371/journal.pone.0211029. eCollection 2019.
PLoS One. 2019.
PMID: 30657791
Free PMC article.
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Null CYP1B1 genotypes in primary congenital and nondominant juvenile glaucoma.
López-Garrido MP, Medina-Trillo C, Morales-Fernandez L, Garcia-Feijoo J, Martínez-de-la-Casa JM, García-Antón M, Escribano J.
López-Garrido MP, et al. Among authors: medina trillo c.
Ophthalmology. 2013 Apr;120(4):716-23. doi: 10.1016/j.ophtha.2012.09.016. Epub 2012 Dec 4.
Ophthalmology. 2013.
PMID: 23218183
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Functional characterization of eight rare missense CYP1B1 variants involved in congenital glaucoma and their association with null genotypes.
Medina-Trillo C, Ferre-Fernández JJ, Aroca-Aguilar JD, Bonet-Fernández JM, Escribano J.
Medina-Trillo C, et al.
Acta Ophthalmol. 2016 Nov;94(7):e555-e560. doi: 10.1111/aos.13017. Epub 2016 Apr 6.
Acta Ophthalmol. 2016.
PMID: 27060699
Free article.
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Nucleic acid recognition and antiviral activity of 1,4-substituted terphenyl compounds mimicking all faces of the HIV-1 Rev protein positively-charged α-helix.
Medina-Trillo C, Sedgwick DM, Herrera L, Beltrán M, Moreno Á, Barrio P, Bedoya LM, Alcamí J, Fustero S, Gallego J.
Medina-Trillo C, et al.
Sci Rep. 2020 Apr 28;10(1):7190. doi: 10.1038/s41598-020-64120-2.
Sci Rep. 2020.
PMID: 32346097
Free PMC article.
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