Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies

Autor: Rodilla, Cristina, Martín-Merida, Inmaculada, Blanco-Kelly, Fiona, Trujillo-Tiebas, María José, Avila-Fernandez, Almudena, Riveiro-Alvarez, Rosa, del Pozo-Valero, Marta, Perea-Romero, Irene, Swafiri, Saoud Tahsin, Zurita, Olga, Villaverde, Cristina, López, Miguel Ángel, Romero, Raquel, Iancu, Ionut Florin, Núñez-Moreno, Gonzalo, Jiménez-Rolando, Belén, Martin-Gutierrez, María Pilar, Carreño, Ester, Minguez, Pablo, García-Sandoval, Blanca, Ayuso, Carmen, Corton, Marta

Publikováno v: In American Journal of Ophthalmology October 2023 254:87-103

Genotype–Phenotype Correlations in a Spanish Cohort of 506 Families With Biallelic ABCA4 Pathogenic Variants

Autor: Del Pozo-Valero, Marta, Riveiro-Alvarez, Rosa, Blanco-Kelly, Fiona, Aguirre-Lamban, Jana, Martin-Merida, Inmaculada, Iancu, Ionut-Florin, Swafiri, Saoud, Lorda-Sanchez, Isabel, Rodriguez-Pinilla, Elvira, Trujillo-Tiebas, Maria José, Jimenez-Rolando, Belen, Carreño, Ester, Mahillo-Fernandez, Ignacio, Rivolta, Carlo, Corton, Marta, Avila-Fernandez, Almudena, Garcia-Sandoval, Blanca, Ayuso, Carmen

Publikováno v: In American Journal of Ophthalmology November 2020 219:195-204

Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies.

Autor: Iancu, Ionut-Florin^1,2 (AUTHOR) ionut.iancu@quironsalud.es, Perea-Romero, Irene^1,2 (AUTHOR) irene.perea@quironsalud.es, Núñez-Moreno, Gonzalo^1,2,3 (AUTHOR) gonzalo.nunezm@quironsalud.es, de la Fuente, Lorena^1,3 (AUTHOR) ldelafuente.lorena@gmail.com, Romero, Raquel^1,2 (AUTHOR) raquel.romerof@quironsalud.es, Ávila-Fernandez, Almudena^1,2 (AUTHOR) aavila@quironsalud.es, Trujillo-Tiebas, María José^1,2 (AUTHOR) mjtrujillo@fjd.es, Riveiro-Álvarez, Rosa^1,2 (AUTHOR) rriveiro@fjd.es, Almoguera, Berta^1,2 (AUTHOR) balmoguera@quironsalud.es, Martín-Mérida, Inmaculada^1,2 (AUTHOR) inmaculada.martinm@quironsalud.es, Del Pozo-Valero, Marta^1,2 (AUTHOR) martapova21@gmail.com, Damián-Verde, Alejandra¹ (AUTHOR) alejandra.damian@quironsalud.es, Cortón, Marta^1,2 (AUTHOR) mcorton@quironsalud.es, Ayuso, Carmen^1,2 (AUTHOR) cayuso@fjd.es, Minguez, Pablo^1,2,3 (AUTHOR) cayuso@fjd.es

Publikováno v: International Journal of Molecular Sciences. Aug2022, Vol. 23 Issue 15, p8431-8431. 19p.

Life cycle analysis of warehouse-type constructions

Autor: Iancu, Ionut Emil, Moga, Ligia Mihaela

This paper conducts a comparative analysis of the life cycle for industrial warehouse-type buildings, intending to compare the embodied emissions and the embodied energy for the assessed cases and at the same time draw practical conclusions for pract

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::711b3e58f62866963754f5285f2e1337

Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

Autor: Perea-Romero, Irene, Gordo, Gema, Iancu, Ionut F., Del Pozo-Valero, Marta, Almoguera, Berta, Blanco-Kelly, Fiona, Antiñolo Gil, Guillermo, Ayuso, Carmen

Inherited retinal diseases (IRDs), defined by dysfunction or progressive loss of photoreceptors, are disorders characterized by elevated heterogeneity, both at the clinical and genetic levels. Our main goal was to address the genetic landscape of IRD

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3272::e0e8632bff9a5a87ef78b15f84d31afe