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Year Number of Results
2015 2
2016 1
2017 1
2019 1
2020 4
2021 1
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10 results
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Page 1
Apparent Radiological Improvement in an Infant With Labrune Syndrome Treated With Bevacizumab.
Martínez-Matilla M, Ferre-Fernández JJ, Aparisi MJ, Marco-Hernández AV, Cerón JA, Crow YJ, Martínez-Castellano F, Tomás-Vila M, Pedrola L. Martínez-Matilla M, et al. Among authors: ferre fernandez jj. Pediatr Neurol. 2020 Nov;112:53-55. doi: 10.1016/j.pediatrneurol.2020.07.011. Epub 2020 Jul 25. Pediatr Neurol. 2020. PMID: 32911264 No abstract available.
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: ferre fernandez jj. Genes (Basel). 2020 May 14;11(5):550. doi: 10.3390/genes11050550. Genes (Basel). 2020. PMID: 32422965 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: ferre fernandez jj. Hum Genet. 2020 Oct;139(10):1209-1231. doi: 10.1007/s00439-020-02164-0. Epub 2020 Apr 9. Hum Genet. 2020. PMID: 32274568
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: ferre fernandez jj. PLoS One. 2019 Jan 18;14(1):e0211029. doi: 10.1371/journal.pone.0211029. eCollection 2019. PLoS One. 2019. PMID: 30657791 Free PMC article.
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: ferre fernandez jj. PLoS One. 2015 Mar 18;10(3):e0119272. doi: 10.1371/journal.pone.0119272. eCollection 2015. PLoS One. 2015. PMID: 25786029 Free PMC article.
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. Sci Rep. 2017 Apr 11;7:46175. doi: 10.1038/srep46175. Sci Rep. 2017. PMID: 28397860 Free PMC article.