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Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity.
Holt R, Goudie D, Verde AD, Gardham A, Ramond F, Putoux A, Sarkar A, Clowes V, Clayton-Smith J, Banka S, Cortazar Galarza L, Thuret G, Ubeda Erviti M, Zurutuza Ibarguren A, Sáez Villaverde R, Tamayo Durán A, Ayuso C, Bax DA, Plaisancie J, Corton M, Chassaing N, Calvas P, Ragge NK. Holt R, et al. Among authors: cortazar galarza l. Ophthalmic Genet. 2022 Dec;43(6):809-816. doi: 10.1080/13816810.2022.2144905. Ophthalmic Genet. 2022. PMID: 36695497 Free article.
[A protocol for the treatment of retinopathy of prematurity in Spain].
Ferrer Novella C, González Viejo I, Pueyo Royo V, Martínez Fernández R, Galdós Iztueta M, Peralta Calvo J, Abelairas Gómez J, Tejada Palacios P, Martín Begué N, Wolley-Dod Ch, Alarcón Portabella S, Serra Castanera A, Morales Ballús M, Harto Castaño MA, Martinez-Costa Perez R, Rodriguez-Hurtado FJ, García Serrano JL, Escudero Gómez J, Morales Guillén C, Pastor Ramos MT, Galván Ledesma A, Balboa Huguet B, García Robles E, Gallardo Galera JM, Cabrera Marrer B, Castellano Solanes J, Cordovés Dorta L, Vals Quintana P, Gil Hernandez MA, Perez-Torres S, Cortazar Galarza L, Ardanaz Aldave MA, Bové Guri M, Blanco Teijeiro MJ, Mera Yañez P, Garcia Campos J. Ferrer Novella C, et al. Among authors: cortazar galarza l. Arch Soc Esp Oftalmol. 2013 Jun;88(6):231-6. doi: 10.1016/j.oftal.2012.07.028. Epub 2012 Oct 26. Arch Soc Esp Oftalmol. 2013. PMID: 23726308 Review. Spanish.
Screening program for retinopathy of prematurity in Spain.
Ferrer Novella C, González Viejo I, Pueyo Royo V, Martínez Fernández R, Galdós Iztueta M, Peralta Calvo J, Abelairas Gómez J, Tejada Palacios P, Martín Begué N, Wolley-Dod Ch, Alarcón Portabella S, Serra Castanera A, Morales Ballús M, Harto Castaño MA, Martinez-Costa Perez R, Rodriguez-Hurtado FJ, García Serrano JL, Escudero Gómez J, Morales Guillén C, Pastor Ramos MT, Galván Ledesma A, Balboa Huguet B, García Robles E, Gallardo Galera JM, Cabrera Marrer B, Castellano Solanes J, Cordovés Dorta L, Vals Quintana P, Gil Hernandez MA, Perez-Torres S, Cortazar Galarza L, Ardanaz Aldave MA, Bové Guri M, Blanco Teijeiro MJ, Mera Yañez P, Garcia Campos J. Ferrer Novella C, et al. Among authors: cortazar galarza l. Arch Soc Esp Oftalmol. 2013 May;88(5):184-8. doi: 10.1016/j.oftal.2012.07.030. Epub 2012 Oct 18. Arch Soc Esp Oftalmol. 2013. PMID: 23623019 Review. English, Spanish.