Suchergebnisse - "Aguirre-Lamban, Jana"

PubPharm (32)

1

Author Correction : 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

ErratumFor: Sci Rep. 2021 Jan 15;11(1):1526. - PMID 33452396

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

A novel SLC6A8 mutation associated with motor dysfunction in a child exhibiting creatine transporter deficiency

enthalten in: Human genome variation | 2015

von Cervera-Acedo, C. | Lopez, M. | Aguirre-Lamban, J. | +4

5

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

6

Outcome of ABCA4 Disease-Associated Alleles in Autosomal Recessive Retinal Dystrophies

enthalten in: Ophthalmology | 2013

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

7

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

8

Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray

enthalten in: Molecular vision | 2010

von Ávila-Fernández, A. | Cantalapiedra, D. | Aller, E. | +10

9

Comparison of high-resolution melting analysis with denaturing high-performance liquid chromatography for mutation scanning in the ABCA4 gene

enthalten in: Investigative ophthalmology & visual science | 2010

von Aguirre-Lamban, J. | Riveiro-Alvarez, R. | Garcia-Hoyos, M. | +6

10

Novel human pathological mutations. Gene symbol : ABCA4. Disease: Stargardt disease

enthalten in: Human genetics | 2010

von Aguirre-Lamban, J. | Riveiro-Alvarez, R. | Cantalapiedra, D. | +5