Miguel Carballo
Terrassa, CT, Spain
Last Updated: 09/26/2026
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Found 24 publications
Night blindness and hearing loss associated with choroideremia.
Journal: Clinical & experimental optometry
Published: June 22, 2023
Next-generation sequencing-based gene panel tests for the detection of rare variants and hypomorphic alleles associated with primary open-angle glaucoma.
Journal: PloS one
Published: February 07, 2023
Mutant PRPF8 Causes Widespread Splicing Changes in Spliceosome Components in Retinitis Pigmentosa Patient iPSC-Derived RPE Cells.
Journal: Frontiers in neuroscience
Published: December 02, 2020
Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families.
Journal: Investigative ophthalmology & visual science
Published: May 31, 2018
Analysis of the PRPF31 Gene in Spanish Autosomal Dominant Retinitis Pigmentosa Patients: A Novel Genomic Rearrangement.
Journal: Investigative ophthalmology & visual science
Published: February 14, 2017
Generation of a human iPSC line from a patient with retinitis pigmentosa caused by mutation in PRPF8 gene.
Journal: Stem cell research
Published: December 21, 2016
Phenotypic Description of the Spanish Multicentre Genetic Glaucoma Group Cohort.
Journal: Journal of ophthalmology
Published: December 14, 2016
The diabetes-tuberculosis co-epidemic: the role of international migration.
Journal: The international journal of tuberculosis and lung disease : the official journal of the International Union against Tuberculosis and Lung Disease
Published: May 08, 2016
Addressing barriers to the prevention, diagnosis and treatment of hepatitis B and C in the face of persisting fiscal constraints in Europe: report from a high level conference.
Journal: Journal of viral hepatitis
Published: October 28, 2015
New COL6A6 variant detected by whole-exome sequencing is linked to break points in intron 4 and 3'-UTR, deleting exon 5 of RHO, and causing adRP.
Journal: Molecular vision
Published: February 13, 2015
Two novel frameshift mutations in BRCA2 gene detected by next generation sequencing in a survey of Spanish patients of breast cancer.
Journal: Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico
Published: September 15, 2014
Last Updated: 09/26/2026