• grupogen2016
  • Genetica oftalmologica
  • Pez cebra
  • larva

Últimas publicaciones de Genética

GoniodysGoniodysgenesis variability and activity of CYP1B1 genotypes in primary congenital glaucoma. PLoS One. 2017 Apr 27;12(4):e0176386. doi: 10.1371/journal.pone.0176386. eCollection 2017. 

García-Antón MTSalazar JJde Hoz RRojas BRamírez AITriviño AAroca-Aguilar JDGarcía-Feijoo JEscribano JRamírez JM

https://www.ncbi.nlm.nih.gov/pubmed/28448622


wholeWhole-Exome Sequencing of Congenital Glaucoma Patients Reveals Hypermorphic Variants in GPATCH3, a New Gene Involved in Ocular and Craniofacial Development. Sci Rep 7: 46175. 2017. doi:10.1038/srep46175. 

Ferre-Fernández JJ, JD Aroca-Aguilar, C Medina-Trillo, JM Bonet-Fernández, CD Méndez-Hernández, L Morales-Fernández, M Corton, MJ Cabañero-Valera, M Gut, R Tonda, C Ayuso, M Coca-Prados, J García-Feijoo & J Escribano.

http://rdcu.be/qZsz

 


Methallo

Metallothionein polymorphisms in a Northern Spanish population with neovascular and dry forms of Age-Related Macular Degeneration (AMD). 2017. 1-8. Ophthalmic Genetics. http://dx.doi.org/10.1080/13816810.2017.1288825.

Montserrat García, Lydia Álvarez, Ángela Fernández, Héctor González-Iglesias, Julio Escribano, Beatriz Fernández-Vega, Álvaro Fernández-Vega, Luis Fernández-Vega and Miguel Coca-Prados


a novel

A novel transient phase kinetic analysis of the fractional modification of monocyclic enzyme cascades. Journal of Mathematical Chemistry. 2016. 54 (10), 1952–1972.

Maria D. Masia, Manuela Garcia-Moreno, Francisco Garcia-Sevilla, Julio Escribano, Milagros Molina-Alarcon, Maria L. Amo-Saus, C. V. Ortíz-Ruiz y Ramon Varon


Rare FOXc1Rare FOXC1 mutations in congenital glaucoma: Identification of translation regulatory sequences. European Journal of Human Genetics. 2016. 24(5): 672-680. doi: 10.1038/ejhg. 2015.169. 

Cristina Medina-Trillo, José-Daniel Aroca-Aguilar, Carmen-Dora Méndez-Hernández, Laura Morales, Maite García-Antón, Julián García-Feijoo and Julio Escribano


LOXL1LOXL1 gene variants and their association with exfoliation glaucoma (XFG) in Spanish patients. BMC Medical Genetics. 2015. 16(1):72.

Lydia Álvarez, Montserrat García, Héctor González-Iglesias, Julio Escribano, Pedro P. Rodríguez-Calvo, Luis Fernández-Vega, Miguel Coca-Prados.

 


Figure-3Functional characterization of eight rare missense CYP1B1 variants involved in congenital glaucoma and their association with null genotypes. 2016. Acta Ophthalmologica.  Nov;94(7):e555-e560. 2016. doi: 10.1111/aos.13017

Cristina Medina-Trillo, Jesús Ferre-Fernández, José-Daniel Aroca-Aguilar, Juan-Manuel Bonet-Fernández and Julio Escribano. 


Julio Acta oftam 2015CFH polymorphisms in a Northern Spanish population with neovascular and dry forms of Age-Related Macular Degeneration (AMD). Acta Ophthalmologica, 2015. Enlace
 

Montserrat García, Lydia Álvarez, Alicja M Nogacka, Héctor González-Iglesias, Julio Escribano, Beatriz Fernández-Vega, Álvaro Fernández-Vega, Luis Fernández-Vega and Miguel Coca-Prados. 


Julio microRNA2015

Rare FOXC1 mutations in congenital glaucoma: Identification of translation regulatory sequences.Journal of Human Genetics, 2015. Enlace 
 
Cristina Medina-Trillo, José-Daniel Aroca-Aguilar, Carmen-Dora Méndez-Hernández, Laura Morales, Maite García-Antón, Julián García-Feijoo and Julio Escribano.
 

Julio Epilepsy 2015

Molecular and neurochemical substrates of the audiogenic seizure strains: the GASH:Sal model. Epilepsy & Behavior. 2015. Enlace
 
Ana I Prieto-Martín, Daniel Aroca-Aguilar, Francisco Sánchez-Sánchez, Luis J Muñoz, DVM, Dolores E López,  Julio Escribano, Carlos de Cabo.
 

Juio J glauc 2015

Clinical variability of primary congenital glaucoma in a Spanish family with CYP1B1 gene mutations. Journal of glaucoma, 2015. Enlace 
 
Morales-Fernández L, Martinez-de-la-Casa JM, Garcia-Bella J, Mendez C, Saenz-Frances F, Garcia M, Escribano J, Garcia-Feijoo J.  
 

Julio microRNA2015

The Role of hsa-miR-548l Dysregulation as a Putative Modifier Factor for Glaucoma-Associated FOXC1 Mutations. MicroRNA, 2015. Enlace
 
Cristina Medina-Trillo, José-Daniel Aroca-Aguilar, Jesús-José Ferre-Fernández, Carmen-Dora Méndez-Hernández, Laura Morales, Julián García-Feijoo and Julio Escribano.  
 

Julio PlosOne2015

Hypo- and hypermorphic FOXC1 mutations in dominant glaucoma: transactivation and phenotypic variability. PLoS ONE, 2015. Enlace
 
Cristina Medina-Trillo, Francisco Sánchez-Sánchez, Jesús Ferre-Fernández, José-Daniel Aroca-Aguilar, Laura Morales, Carmen-Dora Méndez-Hernández, Fiona Blanco-Kelly, Carmen Ayuso, Julián García-Feijoo and Julio Escribano.   
 

 

 

 

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