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Role of GUCA1C in Primary Congenital Glaucoma and in the Retina: Functional Evaluation in Zebrafish.
Morales-Cámara S, Alexandre-Moreno S, Bonet-Fernández JM, Atienzar-Aroca R, Aroca-Aguilar JD, Ferre-Fernández JJ, Méndez CD, Morales L, Fernández-Sánchez L, Cuenca N, Coca-Prados M, Martínez-de-la-Casa JM, Garcia-Feijoo J, Escribano J. Morales-Cámara S, et al. Among authors: escribano j. Genes (Basel). 2020 May 14;11(5):550. doi: 10.3390/genes11050550. Genes (Basel). 2020. PMID: 32422965 Free PMC article.
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: escribano j. Ophthalmology. 2013 Apr;120(4):716-23. doi: 10.1016/j.ophtha.2012.09.016. Epub 2012 Dec 4. Ophthalmology. 2013. PMID: 23218183
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. Among authors: escribano j. PLoS One. 2019 Jan 18;14(1):e0211029. doi: 10.1371/journal.pone.0211029. eCollection 2019. PLoS One. 2019. PMID: 30657791 Free PMC article.
CPAMD8 loss-of-function underlies non-dominant congenital glaucoma with variable anterior segment dysgenesis and abnormal extracellular matrix.
Bonet-Fernández JM, Aroca-Aguilar JD, Corton M, Ramírez AI, Alexandre-Moreno S, García-Antón MT, Salazar JJ, Ferre-Fernández JJ, Atienzar-Aroca R, Villaverde C, Iancu I, Tamayo A, Méndez-Hernández CD, Morales-Fernández L, Rojas B, Ayuso C, Coca-Prados M, Martinez-de-la-Casa JM, García-Feijoo J, Escribano J. Bonet-Fernández JM, et al. Among authors: escribano j. Hum Genet. 2020 Oct;139(10):1209-1231. doi: 10.1007/s00439-020-02164-0. Epub 2020 Apr 9. Hum Genet. 2020. PMID: 32274568
Hypo- and hypermorphic FOXC1 mutations in dominant glaucoma: transactivation and phenotypic variability.
Medina-Trillo C, Sánchez-Sánchez F, Aroca-Aguilar JD, Ferre-Fernández JJ, Morales L, Méndez-Hernández CD, Blanco-Kelly F, Ayuso C, García-Feijoo J, Escribano J. Medina-Trillo C, et al. Among authors: escribano j. PLoS One. 2015 Mar 18;10(3):e0119272. doi: 10.1371/journal.pone.0119272. eCollection 2015. PLoS One. 2015. PMID: 25786029 Free PMC article.
465 results