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2020 2
2021 1
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Page 1
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: bonet fernandez jm. 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. Hum Genet. 2020 Oct;139(10):1209-1231. doi: 10.1007/s00439-020-02164-0. Epub 2020 Apr 9. Hum Genet. 2020. PMID: 32274568
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: bonet fernandez jm. Sci Rep. 2017 Apr 11;7:46175. doi: 10.1038/srep46175. Sci Rep. 2017. PMID: 28397860 Free PMC article.