M. Esther Gallardo Perez
M. Esther Gallardo Perez
Miguel Servet Researcher, I+12 Research Institute, Hospital 12 de Octubre
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OPA1 mutations induce mitochondrial DNA instability and optic atrophy ‘plus’ phenotypes
P Amati-Bonneau, ML Valentino, P Reynier, ME Gallardo, B Bornstein, ...
Brain 131 (2), 338-351, 2008
4422008
Clustering of missense mutations in the C-terminal region of factor H in atypical hemolytic uremic syndrome
D Pérez-Caballero, C González-Rubio, ME Gallardo, M Vera, ...
The American Journal of Human Genetics 68 (2), 478-484, 2001
3172001
Differences in reactive oxygen species production explain the phenotypes associated with common mouse mitochondrial DNA variants
R Moreno-Loshuertos, R Acín-Pérez, P Fernández-Silva, N Movilla, ...
Nature genetics 38 (11), 1261-1268, 2006
3152006
A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2)
JM Serratosa, P Gómez-Garre, ME Gallardo, B Anta, DBV De Bernabé, ...
Human molecular genetics 8 (2), 345-352, 1999
2171999
Prenatal detection of a cystic fibrosis mutation in fetal DNA from maternal plasma
RC González-González MC1, García-Hoyos M, Trujillo MJ, Rodríguez de Alba M ...
Prenat. Diagn. 22 (10), 946-8, 2002
1872002
Genomic cloning and characterization of the human homeobox gene SIX6 reveals a cluster of SIX genes in chromosome 14 and associates SIX6 hemizygosity with bilateral …
ME Gallardo, J Lopez-Rios, I Fernaud-Espinosa, B Granadino, R Sanz, ...
Genomics 61 (1), 82-91, 1999
1651999
Designing recombinant Pseudomonas strains to enhance biodesulfurization.
ME Gallardo, A Ferrandez, V De Lorenzo, JL García, E Diaz
Journal of bacteriology 179 (22), 7156-7160, 1997
1401997
Six9 (Optx2), a new member of the six gene family of transcription factors, is expressed at early stages of vertebrate ocular and pituitary development
J López-Rı́os, ME Gallardo, SR de Córdoba, P Bovolenta
Mechanisms of development 83 (1-2), 155-159, 1999
861999
The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism
ME Gallardo, LR Desviat, JM Rodríguez, J Esparza-Gordillo, ...
The American Journal of Human Genetics 68 (2), 334-346, 2001
742001
m. 6267G> A: a recurrent mutation in the human mitochondrial DNA that reduces cytochrome c oxidase activity and is associated with tumors
ME Gallardo, R Moreno‐Loshuertos, C López, M Casqueiro, J Silva, ...
Human mutation 27 (6), 575-582, 2006
722006
Genetic basis of end‐stage hypertrophic cardiomyopathy
P Garcia‐Pavia, ME Vázquez, J Segovia, C Salas, P Avellana, ...
European journal of heart failure 13 (11), 1193-1201, 2011
662011
Analysis of the developmental SIX6 homeobox gene in patients with anophthalmia/microphthalmia
ME Gallardo, S Rodríguez de Córdoba, AS Schneider, MA Dwyer, ...
American Journal of Medical Genetics Part A 129 (1), 92-94, 2004
652004
MidA is a putative methyltransferase that is required for mitochondrial complex I function
S Carilla-Latorre, ME Gallardo, SJ Annesley, J Calvo-Garrido, O Graña, ...
Journal of Cell Science 123 (10), 1674-1683, 2010
572010
Evolution meets disease: penetrance and functional epistasis of mitochondrial tRNA mutations
R Moreno-Loshuertos, G Ferrín, R Acín-Pérez, ME Gallardo, C Viscomi, ...
PLoS Genet 7 (4), e1001379, 2011
542011
The thyroid hormone receptor β induces DNA damage and premature senescence
A Zambrano, V García-Carpizo, ME Gallardo, R Villamuera, ...
Journal of Cell Biology 204 (1), 129-146, 2014
492014
Genomic Cloning, Structure, Expression Pattern, and Chromosomal Location of the HumanSIX3Gene
B Granadino, ME Gallardo, J López-Rı́os, R Sanz, C Ramos, C Ayuso, ...
Genomics 55 (1), 100-105, 1999
471999
Enhanced tumorigenicity by mitochondrial DNA mild mutations
A Cruz-Bermúdez, CG Vallejo, RJ Vicente-Blanco, ME Gallardo, ...
Oncotarget 6 (15), 13628, 2015
402015
Alkaptonuria in the Dominican Republic: identification of the founder AKU mutation and further evidence of mutation hot spots in the HGO gene
EG De Jorge, I Lorda, ME Gallardo, B Perez, CP De Ferran, H Mendoza, ...
Journal of medical genetics 39 (7), e40-e40, 2002
402002
Familial syndromic esophageal atresia maps to 2p23-p24
J Celli, E van Beusekom, RCM Hennekam, ME Gallardo, DFCM Smeets, ...
The American Journal of Human Genetics 66 (2), 436-444, 2000
392000
Marked mitochondrial DNA depletion associated with a novel SUCLG1 gene mutation resulting in lethal neonatal acidosis, multi-organ failure, and interrupted aortic arch.
MMA Rivera H1, Merinero B, Martinez-Pardo M, Arroyo I, Ruiz-Sala P ...
Mitochondrion 10 (4), 362-8, 2010
352010
El sistema no puede realizar la operación en estos momentos. Inténtalo de nuevo más tarde.
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