T
Teresa Jaijo
Researcher at Instituto Politécnico Nacional
Publications - 51
Citations - 1462
Teresa Jaijo is an academic researcher from Instituto Politécnico Nacional. The author has contributed to research in topics: Usher syndrome & Retinitis pigmentosa. The author has an hindex of 19, co-authored 45 publications receiving 1188 citations. Previous affiliations of Teresa Jaijo include University of Valencia & Spanish National Research Council.
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Journal ArticleDOI
An Update on the Genetics of Usher Syndrome
José M. Millán,Elena Aller,Teresa Jaijo,Fiona Blanco-Kelly,Ascension Gimenez-Pardo,Carmen Ayuso +5 more
TL;DR: Usher syndrome is an autosomal recessive disease characterized by hearing loss, retinitis pigmentosa (RP), and, in some cases, vestibular dysfunction, and is the most common cause underlying deafness and blindness of genetic origin.
Journal ArticleDOI
Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy
Teresa Sevilla,Teresa Jaijo,Dolores Nauffal,Diego Collado,María José Chumillas,Juan J. Vílchez,Nuria Muelas,L. Bataller,Rosalía Doménech,Carmen Espinós,Francesc Palau +10 more
TL;DR: This study shows that CMT patients with GDAP1 mutations develop severe disability due to weakness of limb muscles and that laryngeal and respiratory muscle involvement occurs late in the disease process when significant proximal upper limb weakness has developed.
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Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II
Elena Aller,Teresa Jaijo,Magdalena Beneyto,C. Nájera,S Oltra,Carmen Ayuso,Montserrat Baiget,Miguel Carballo,Guillermo Antiñolo,Diana Valverde,F Moreno,Concha Vilela,D Collado,Herminio Pérez-Garrigues,Amparo Navea,JM Millán +15 more
TL;DR: On analysing the new 52 exons of USH2A gene, fourteen novel mutations were identified in 14 out of the 32 cases studied, including 7 missense, 5 frameshift, 1 duplication and a putative splice-site mutation.
Journal ArticleDOI
Targeted next generation sequencing for molecular diagnosis of Usher syndrome
María José Aparisi,Elena Aller,Carla Fuster-García,Gema García-García,Regina Rodrigo,Rafael P. Vázquez-Manrique,Fiona Blanco-Kelly,Carmen Ayuso,Anne-Françoise Roux,Teresa Jaijo,José M. Millán +10 more
TL;DR: Targeted next generation sequencing allowed us to detect both point mutations and large rearrangements in a single experiment, minimizing the economic cost of the study, increasing the detection ratio of the genetic cause of the disease and improving the genetic diagnosis of Usher syndrome patients.
Journal ArticleDOI
Microarray-based mutation analysis of 183 Spanish families with Usher syndrome.
Teresa Jaijo,Elena Aller,Gema García-García,María José Aparisi,Sara Bernal,Almudena Avila-Fernandez,Isabel Barragan,Montserrat Baiget,Carmen Ayuso,Guillermo Antiñolo,Manuel Díaz-Llopis,Maigi Külm,Magdalena Beneyto,C. Nájera,José M. Millán +14 more
TL;DR: The genotyping microarray is a robust, low-cost, rapid technique that is effective for the genetic study of patients with Usher syndrome, however, it also indicates variants of unclear pathologic nature and detection failures have also been observed.