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Miguel Carballo

Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications
2021 · Irene Perea-Romero, Gema Gordo, et al. · Scientific Reports · 144
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Mutations in the Pre-mRNA Splicing-Factor Genes PRPF3 , PRPF8 , and PRPF31 in Spanish Families with Autosomal Dominant Retinitis Pigmentosa
2003 · Mari´a Marti´nez-Gimeno, Mari´a Jose´ Gamundi, et al. · Investigative Ophthalmology & Visual Science · 99
Clinical pharmacogenomic testing of KRAS, BRAF and EGFRmutations by high resolution melting analysis and ultra-deep pyrosequencing
2011 · Emma Borràs, Ismael Jurado, et al. · BMC Cancer · 88
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DNA and histone H1 interact with different domains of HMG 1 and 2 proteins.
1983 · M. Carballo, P. Puigdomènech, et al. · The EMBO Journal · 83
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Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II
2006 · E Aller, T Jaijo, et al. · Journal of Medical Genetics · 78
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Novelc-KIT germline mutation in a family with gastrointestinal stromal tumors and cutaneous hyperpigmentation
2005 · Miguel Carballo, Ignasi Roig, et al. · American Journal of Medical Genetics Part A · 73
Hypersensitivity Reactions to Non-Steroidal Anti-Inflammatory Drugs
2009 · Jose Cornejo-Garcia, Natalia Blanca-Lopez, et al. · Current Drug Metabolism · 65
Retinitis pigmentosa in Spain
1995 · C. Ayuso, B. Garcia‐Sandoval, et al. · Clinical Genetics · 64
Pharmacogenomics in Aspirin Intolerance
2009 · Jose Agundez, Carmen Martinez, et al. · Current Drug Metabolism · 62
Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families
2018 · Inmaculada Martin-Merida, Domingo Aguilera-Garcia, et al. · Investigative Ophthalmology & Visual Science · 60
A point mutation in the RDS-peripherin gene in a Spanish family with central areolar choroidal dystrophy
1995 · Carlos Reig, Alicia Serra, et al. · Ophthalmic Genetics · 58
Polymorphism of the TLR4 Gene Reduces the Risk of Hepatitis C Virus-Induced Hepatocellular Carcinoma
2012 · José A. Agúndez, Elena García-Martín, et al. · Oncology · 56
Differential cytokine and transcription factor expression in patients with allergic reactions to drugs
2007 · J. A. Cornejo‐Garcia, T. D. Fernandez, et al. · Allergy · 52
Mutations P51U and G122E in retinal transcription factor NRL associated with autosomal dominant and sporadic retinitis pigmentosa
2001 · María Martinez-Gimeno, Miquel Maseras, et al. · Human Mutation · 52
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Relation of IL28B Gene Polymorphism with Biochemical and Histological Features in Hepatitis C Virus-Induced Liver Disease
2012 · José A. Agúndez, Elena García-Martin, et al. · PLoS ONE · 51
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Detection of Genomic Variations in BRCA1 and BRCA2 Genes by Long-Range PCR and Next-Generation Sequencing
2012 · Imma Hernan, Emma Borràs, et al. · Journal of Molecular Diagnostics · 50
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Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I
2006 · T. Jaijo, E. Aller, et al. · Human Mutation · 48
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A missense mutation (211His-Arg) and a silent (160Thr) mutation within the rhodopsin gene in a Spanish autosomal dominant retinitis pigmentosa family
1994 · C. Reig, N. Liecha, et al. · Human Molecular Genetics · 48
Differential gene expression in drug hypersensitivity reactions: induction of alarmins in severe bullous diseases
2009 · T. Bellón, L. Álvarez, et al. · British Journal of Dermatology · 47
Interaction between domains in chromosomal protein HMG‐1.
1984 · M. Carballo, P. Puigdomènech, et al. · The EMBO Journal · 45
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Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies
2008 · S Bernal, T Solans, et al. · Clinical Genetics · 43
De novo germline mutation in the serine–threonine kinase STK11/LKB1 gene associated with Peutz–Jeghers syndrome
2004 · I Hernan, I Roig, et al. · Clinical Genetics · 42
Prevalence of Rhodopsin mutations in autosomal dominant Retinitis Pigmentosa in Spain: clinical and analytical review in 200 families
2014 · Patricia Fernandez‐San Jose, Fiona Blanco‐Kelly, et al. · Acta Ophthalmologica · 38
Transcriptional expression ofcis-acting andtrans-acting splicing mutations cause autosomal dominant retinitis pigmentosa
2008 · María José Gamundi, Imma Hernan, et al. · Human Mutation · 38
Spectrum of the ABCA4 Gene Mutations Implicated in Severe Retinopathies in Spanish Patients
2007 · Diana Valverde, Rosa Riveiro-Alvarez, et al. · Investigative Ophthalmology & Visual Science · 38
Works count: 77
Citation count: 2,149
H-index: 28
I10-index: 53
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