Guillermo Antiñolo
Consejo Superior de Investigaciones Científicas(ES)Centre for Biomedical Network Research on Rare Diseases(ES)Instituto de Biomedicina de Sevilla(ES)IVI Sevilla Clinic(ES)Hospital Universitario Virgen del Rocío(ES)Universidad de Sevilla(ES)
Publications by Year
Research Areas
Congenital gastrointestinal and neural anomalies, Retinal Development and Disorders, Retinal Diseases and Treatments, Congenital Anomalies and Fetal Surgery, Digestive system and related health
Most-Cited Works
- → Hirschsprung disease, associated syndromes and genetics: a review(2007)1,197 cited
- → Differential Contributions of Rare and Common, Coding and Noncoding Ret Mutations to Multifactorial Hirschsprung Disease Liability(2010)243 cited
- → EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa(2008)213 cited
- → Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene(2008)165 cited
- → Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications(2021)155 cited
- → Specific polymorphisms in the RETproto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression(1999)