Suchergebnisse - "Cortón, Marta"

PubPharm (8)

1

Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies

enthalten in: Investigative ophthalmology & visual science | 2022

von Del Pozo-Valero, M. | Riveiro-Alvarez, R. | Martin-Merida, I. | +10

2

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

enthalten in: Scientific reports | 2021

von Perea-Romero, I. | Gordo, G. | Iancu, I. | +114

ErratumIn: Sci Rep. 2021 May 10;11(1):10340. - PMID 33972629

3

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

enthalten in: American journal of ophthalmology | 2020

von Del Pozo-Valero, M. | Riveiro-Alvarez, R. | Blanco-Kelly, F. | +15

4

New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report

enthalten in: BMC medical genetics | 2017

von Blanco-Kelly, F. | Rodrigues-Jacy da Silva, L. | Sanchez-Navarro, I. | +4

5

Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa

enthalten in: Scientific reports | 2016

von Perez-Carro, R. | Corton, M. | Sánchez-Navarro, I. | +14

ErratumIn: Sci Rep. 2016 Apr 22;6:24843. - PMID 27102970

6

Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies : retrospective analysis in 420 Spanish families

enthalten in: Ophthalmology | 2013

von Riveiro-Alvarez, R. | Lopez-Martinez, M. | Zernant, J. | +14

7

Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis

enthalten in: PloS one | 2013

von Corton, M. | Nishiguchi, K. | Avila-Fernández, A. | +5

ErratumIn: PLoS One. 2016;11(3):e0153121. - PMID 27031522

8

Further associations between mutations and polymorphisms in the ABCA4 gene : clinical implication of allelic variants and their role as protector/risk factors

enthalten in: Investigative ophthalmology & visual science | 2011

von Aguirre-Lamban, J. | González-Aguilera, J. | Riveiro-Alvarez, R. | +7

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