T. Jaijo

发表

A Genetic Basis for Mechanosensory Traits in Humans

Jens Jordan, Jens Tank, Gary R. Lewin, 2012, PLoS biology.

High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative

E. Aller, J. Millán, T. Jaijo, 2018, Scientific Reports.

Epilepsy, status epilepticus, and hemiplegic migraine coexisting with a novel SLC4A4 mutation

S. Gil-Perotín, T. Jaijo, M. Mazón, 2021, Neurological Sciences.

USH2A Gene Editing Using the CRISPR System

E. Aller, J. Millán, R. Vázquez-Manrique, 2017, Molecular therapy. Nucleic acids.

Altered Antioxidant-Oxidant Status in the Aqueous Humor and Peripheral Blood of Patients with Retinitis Pigmentosa

E. Aller, J. Millán, D. Hervás, 2013, PloS one.

CONCOMITANT MUTATIONS IN INHERITED RETINAL DYSTROPHIES

E. Aller, J. Millán, T. Jaijo, 2021, Retina.

Clinical aspects of Usher syndrome and the USH2A gene in a cohort of 433 patients.

E. Aller, J. Millán, T. Jaijo, 2015, JAMA ophthalmology.

Mutation screening of USH3 gene (clarin‐1) in Spanish patients with Usher syndrome: low prevalence and phenotypic variability

E. Aller, J. Millán, T. Jaijo, 2004, Clinical genetics.

Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment

H. Hakonarson, E. Aller, J. Millán, 2020, Molecular vision.

Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy.

T. Jaijo, C. Espinós, J. Vílchez, 2008, Brain : a journal of neurology.

Presenilin-1 Mutations Are a Cause of Primary Lateral Sclerosis-Like Syndrome

T. Jaijo, J. Pérez-Tur, J. Vázquez-Costa, 2021, Frontiers in Molecular Neuroscience.

Genetic Screening of the Usher Syndrome in Cuba

E. Aller, J. Millán, T. Jaijo, 2019, Front. Genet..

Mutation screening of the PCDH15 gene in Spanish patients with Usher syndrome type I

E. Aller, J. Millán, W. Kimberling, 2012, Molecular vision.

Expanding the Genetic Landscape of Usher-Like Phenotypes.

H. Hakonarson, E. Aller, J. Millán, 2019, Investigative ophthalmology & visual science.

Axonemal Symmetry Break, a New Ultrastructural Diagnostic Tool for Primary Ciliary Dyskinesia?

T. Jaijo, M. Armengot-Carceller, F. Vera-Sempere, 2022, Diagnostics.

Hereditary Spastic Paraplegia 7 Presenting as Multifocal Dystonia with Prominent Cranio‐Cervical Involvement

T. Jaijo, L. Bataller, I. Martínez‐Torres, 2021, Movement disorders clinical practice.

Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain

E. Aller, T. Jaijo, R. Sivera, 2022, Neurology: Genetics.

Novel mutations in the USH1C gene in Usher syndrome patients

E. Aller, J. Millán, M. Baiget, 2010, Molecular vision.

Prevalent ALMS1 Pathogenic Variants in Spanish Alström Patients

J. Millán, T. Jaijo, C. Ayuso, 2021, Genes.

High Prevalence Mutations in ALMS1 in Spanish Alström Patients

T. Jaijo, C. Ayuso, D. Valverde, 2020 .

Improving the Management of Patients with Hearing Loss by the Implementation of an NGS Panel in Clinical Practice

E. Aller, J. Millán, T. Jaijo, 2020, Genes.

[Genetic counselling in visual and auditory disorders].

E. Aller, J. Millán, T. Jaijo, 2008, Archivos de la Sociedad Espanola de Oftalmologia.

Updating the Genetic Landscape of Inherited Retinal Dystrophies

E. Aller, T. Jaijo, J. M. Millán, 2021, Frontiers in Cell and Developmental Biology.

Functional analysis of splicing mutations in MYO7A and USH2A genes

E. Aller, I. Hernán, T. Jaijo, 2011, Clinical genetics.

Microarray-based mutation analysis of 183 Spanish families with Usher syndrome.

E. Aller, J. Millán, G. Antiñolo, 2010, Investigative ophthalmology & visual science.

Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II

E. Aller, J. Millán, G. Antiñolo, 2006, Journal of Medical Genetics.

Expanding the clinical and molecular heterogeneity of nonsyndromic inherited retinal dystrophies.

E. Aller, J. Millán, R. Gallego-Pinazo, 2020, The Journal of molecular diagnostics : JMD.

Usher Syndrome: Genetics of a Human Ciliopathy

E. Aller, J. Millán, T. Jaijo, 2021, International journal of molecular sciences.

High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative

E. Aller, J. Millán, T. Jaijo, 2018, Scientific Reports.

Identification of large rearrangements of the PCDH15 gene by combined MLPA and a CGH: large duplications are responsible for Usher syndrome.

D. Blesa, E. Aller, J. Millán, 2010, Investigative ophthalmology & visual science.

An Update on the Genetics of Usher Syndrome

Fiona Blanco-Kelly, Teresa Jaijo, Carmen Ayuso, 2010, Journal of ophthalmology.

Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin

C. Cremers, F. Kersten, E. van Wijk, 2010, Molecular vision.

Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I

E. Aller, W. Kimberling, A. Oshima, 2008, Human mutation.

Screening of the USH1G Gene among Spanish Patients with Usher Syndrome. Lack of Mutations and Evidence of a Minor Role in the Pathogenesis of the Syndrome

E. Aller, J. Millán, C. Morera, 2007, Ophthalmic genetics.

Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

H. Hakonarson, B. Gener, D. Sharon, 2021, Scientific reports.

Functional assays of non-canonical splice-site variants in inherited retinal dystrophies genes

E. Aller, J. Millán, T. Jaijo, 2022, Scientific Reports.

Functional assays of non-canonical splice-site variants in inherited retinal dystrophies genes

E. Aller, T. Jaijo, G. García-García, 2022, Scientific reports.

Targeted next generation sequencing for molecular diagnosis of Usher syndrome

E. Aller, J. Millán, A. Roux, 2014, Orphanet Journal of Rare Diseases.

Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations

E. Aller, J. Millán, M. Baiget, 2011, Orphanet journal of rare diseases.

Phosphodiesterase inhibition induces retinal degeneration, oxidative stress and inflammation in cone-enriched cultures of porcine retina.

J. García-Verdugo, E. Aller, J. Millán, 2013, Experimental eye research.

Novel deletions involving the USH2A gene in patients with Usher syndrome and retinitis pigmentosa

E. Aller, J. Millán, A. Roux, 2014, Molecular vision.

The USH2A c.2299delG mutation: dating its common origin in a Southern European population

E. Aller, J. Millán, F. González-Candelas, 2010, European Journal of Human Genetics.

Phenotypic heterogeneity in two large Roma families with a congenital myasthenic syndrome due to CHRNE 1267delG mutation. A long-term follow-up

T. Jaijo, R. Arteaga, J. Colomer, 2016, Neuromuscular Disorders.

The importance of biochemical and genetic findings in the diagnosis of atypical Norrie disease

J. Millán, T. Jaijo, G. García-García, 2017, Clinical chemistry and laboratory medicine.

Modeling a Novel Variant of Glycogenosis IXa Using a Clonal Inducible Reprogramming System to Generate “Diseased” Hepatocytes for Accurate Diagnosis

J. Castell, T. Jaijo, R. Bort, 2022, Journal of personalized medicine.

MYO7A mutation screening in Usher syndrome type I patients from diverse origins

E. Aller, J. Millán, F. Moreno, 2006, Journal of Medical Genetics.

Genetics of the Charcot‐Marie‐Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy‐Russe in depth

C. Paradas, T. Jaijo, J. Colomer, 2013, Clinical genetics.

Study of USH1 Splicing Variants through Minigenes and Transcript Analysis from Nasal Epithelial Cells

M. Armengot, E. Aller, J. Millán, 2013, PloS one.

Two novel disease-causing mutations in the CLRN1 gene in patients with Usher syndrome type 3

E. Aller, J. Millán, J. Rosell, 2012, Molecular vision.

Genotype–phenotype correlation in patients with Usher syndrome and pathogenic variants in MYO7A: implications for future clinical trials

T. Jaijo, E. Carreño, C. Ayuso, 2021, Acta ophthalmologica.

Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I

E. Aller, G. Antiñolo, F. Moreno, 2006, Human mutation.

Spinocerebellar Ataxia 36 is a Frequent Cause of Hereditary Ataxia in Eastern Spain

J. García-Verdugo, E. Aller, T. Jaijo, 2023, Movement disorders clinical practice.

GENETIC COUNSELLING IN VISUAL AND AUDITORY DISORDERS EL ASESORAMIENTO GENÉTICO EN LOS DÉFICITS VISUALES Y AUDITIVOS

Maria Beneyto, E. Aller, T. Jaijo, 2008 .

Genetic Testing Information Standardization in HL7 CDA and ISO13606

Oscar Pastor, Ana M. Levin, Diego Boscá, 2013, MedInfo.

Phosphodiesterase inhibition induces retinal degeneration, oxidative stress and inflammation in cone-enriched cultures of porcine retina.

J. García-Verdugo, E. Aller, J. Millán, 2013, Experimental eye research.