Search Results - "Jaijo, Teresa"

Usher Syndrome: Genetics of a Human Ciliopathy by Fuster-García, Carla, García-Bohórquez, Belén, Rodríguez-Muñoz, Ana, Aller, Elena, Jaijo, Teresa, Millán, José M, García-García, Gema

“…Usher syndrome (USH) is an autosomal recessive syndromic ciliopathy characterized by sensorineural hearing loss, retinitis pigmentosa and, sometimes,…”
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Functional assays of non-canonical splice-site variants in inherited retinal dystrophies genes by Rodriguez-Muñoz, Ana, Liquori, Alessandro, García-Bohorquez, Belén, Jaijo, Teresa, Aller, Elena, Millán, José M., García-García, Gema

“…Inherited retinal dystrophies are a group of disorders characterized by the progressive degeneration of photoreceptors leading to loss of the visual function…”
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Epilepsy, status epilepticus, and hemiplegic migraine coexisting with a novel SLC4A4 mutation by Gil-Perotín, Sara, Jaijo, Teresa, Verdú, Andrés G., Rubio, Pilar, Mazón, Miguel, Gasqué-Rubio, Raquel, Díaz, Samuel

“…Background Recessive mutations in the SLC4A4 gene cause a syndrome characterised by proximal renal tubular acidosis (pRTA), mental retardation, dental and…”
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Altered antioxidant-oxidant status in the aqueous humor and peripheral blood of patients with retinitis pigmentosa by Martínez-Fernández de la Cámara, Cristina, Salom, David, Sequedo, Ma Dolores, Hervás, David, Marín-Lambíes, Cristina, Aller, Elena, Jaijo, Teresa, Díaz-Llopis, Manuel, Millán, José María, Rodrigo, Regina

“…Retinitis Pigmentosa is a common form of hereditary retinal degeneration constituting the largest Mendelian genetic cause of blindness in the developed world…”
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Exploring non-coding variants and evaluation of antisense oligonucleotides for splicing redirection in Usher syndrome by García-Bohórquez, Belén, Barberán-Martínez, Pilar, Aller, Elena, Jaijo, Teresa, Mínguez, Pablo, Rodilla, Cristina, Fernández-Caballero, Lidia, Blanco-Kelly, Fiona, Ayuso, Carmen, Sanchis-Juan, Alba, Broekman, Sanne, de Vrieze, Erik, van Wijk, Erwin, García-García, Gema, Millán, José M.

“…Exploring non-coding regions is increasingly gaining importance in the diagnosis of inherited retinal dystrophies. Deep-intronic variants causing aberrant…”
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USH2A Gene Editing Using the CRISPR System by Fuster-García, Carla, García-García, Gema, González-Romero, Elisa, Jaijo, Teresa, Sequedo, María D., Ayuso, Carmen, Vázquez-Manrique, Rafael P., Millán, José M., Aller, Elena

“…Usher syndrome (USH) is a rare autosomal recessive disease and the most common inherited form of combined visual and hearing impairment. Up to 13 genes are…”
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Case Report: Partial Uniparental Disomy Unmasks a Novel Recessive Mutation in the LYST Gene in a Patient With a Severe Phenotype of Chédiak-Higashi Syndrome by Boluda-Navarro, Mireia, Ibáñez, Mariam, Liquori, Alessandro, Franco-Jarava, Clara, Martínez-Gallo, Mónica, Rodríguez-Vega, Héctor, Teresa, Jaijo, Carreras, Carmen, Such, Esperanza, Zúñiga, Ángel, Colobran, Roger, Cervera, José Vicente

“…Chédiak-Higashi syndrome (CHS) is a rare autosomal recessive (AR) immune disorder that has usually been associated to missense, nonsense or indels mutations in…”
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Axonemal Symmetry Break, a New Ultrastructural Diagnostic Tool for Primary Ciliary Dyskinesia? by Blanco-Máñez, Rosana, Armengot-Carceller, Miguel, Jaijo, Teresa, Vera-Sempere, Francisco

“…Diagnosis testing for primary ciliary dyskinesia (PCD) requires a combination of investigations that includes study of ciliary beat pattern by high-speed…”
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An Update on the Genetics of Usher Syndrome by Millán, José M., Aller, Elena, Jaijo, Teresa, Blanco-Kelly, Fiona, Gimenez-Pardo, Ascensión, Ayuso, Carmen

“…Usher syndrome (USH) is an autosomal recessive disease characterized by hearing loss, retinitis pigmentosa (RP), and, in some cases, vestibular dysfunction. It…”
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Updating the Genetic Landscape of Inherited Retinal Dystrophies by García Bohórquez, Belén, Aller, Elena, Rodríguez Muñoz, Ana, Jaijo, Teresa, García García, Gema, Millán, José M

“…Inherited retinal dystrophies (IRD) are a group of diseases characterized by the loss or dysfunction of photoreceptors and a high genetic and clinical…”
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Modeling a Novel Variant of Glycogenosis IXa Using a Clonal Inducible Reprogramming System to Generate "Diseased" Hepatocytes for Accurate Diagnosis by Garcia-Llorens, Guillem, Lopez-Navarro, Sergi, Jaijo, Teresa, Castell, Jose V, Bort, Roque

“…The diagnosis of inherited metabolic disorders is a long and tedious process. The matching of clinical data with a genomic variant in a specific metabolic…”
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A genetic basis for mechanosensory traits in humans by Frenzel, Henning, Bohlender, Jörg, Pinsker, Katrin, Wohlleben, Bärbel, Tank, Jens, Lechner, Stefan G, Schiska, Daniela, Jaijo, Teresa, Rüschendorf, Franz, Saar, Kathrin, Jordan, Jens, Millán, José M, Gross, Manfred, Lewin, Gary R

“…In all vertebrates hearing and touch represent two distinct sensory systems that both rely on the transformation of mechanical force into electrical signals…”
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Presenilin-1 Mutations Are a Cause of Primary Lateral Sclerosis-Like Syndrome by Vázquez-Costa, Juan Francisco, Payá-Montes, María, Martínez-Molina, Marina, Jaijo, Teresa, Szymanski, Jazek, Mazón, Miguel, Sopena-Novales, Pablo, Pérez-Tur, Jordi, Sevilla, Teresa

“…Primary lateral sclerosis (PLS) is a progressive upper motor neuron (UMN) disorder. It is debated whether PLS is part of the amyotrophic lateral sclerosis…”
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Genetic Screening of the Usher Syndrome in Cuba by Santana, Elayne E, Fuster-García, Carla, Aller, Elena, Jaijo, Teresa, García-Bohórquez, Belén, García-García, Gema, Millán, José M, Lantigua, Araceli

“…Usher syndrome (USH) is a recessive inherited disease characterized by sensorineural hearing loss, retinitis pigmentosa, and sometimes, vestibular dysfunction…”
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Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations by Garcia-Garcia, Gema, Aparisi, Maria J, Jaijo, Teresa, Rodrigo, Regina, Leon, Ana M, Avila-Fernandez, Almudena, Blanco-Kelly, Fiona, Bernal, Sara, Navarro, Rafael, Diaz-Llopis, Manuel, Baiget, Montserrat, Ayuso, Carmen, Millan, Jose M, Aller, Elena

“…Usher Syndrome type II (USH2) is an autosomal recessive disorder, characterized by moderate to severe hearing impairment and retinitis pigmentosa (RP). Among…”
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Study of USH1 splicing variants through minigenes and transcript analysis from nasal epithelial cells by Aparisi, María José, García-García, Gema, Aller, Elena, Sequedo, María Dolores, Martínez-Fernández de la Cámara, Cristina, Rodrigo, Regina, Armengot, Miguel, Cortijo, Julio, Milara, Javier, Díaz-LLopis, Manuel, Jaijo, Teresa, Millán, José María

“…Usher syndrome type I (USH1) is an autosomal recessive disorder characterized by congenital profound deafness, vestibular areflexia and prepubertal retinitis…”
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The USH2A c.2299delG mutation: dating its common origin in a Southern European population by ALLER, Elena, LARRIEU, Lise, MILLAN, José M, JAIJO, Teresa, BAUX, David, ESPINOS, Carmen, GONZALEZ-CANDELAS, Fernando, NAJERA, Carmen, PALAU, Francesc, CLAUSTRES, Mireille, ROUX, Anne-Françoise

“…Usher syndrome type II is the most common form of Usher syndrome. USH2A is the main responsible gene of the three known to be disease causing. It encodes two…”
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Expanding the Clinical and Molecular Heterogeneity of Nonsyndromic Inherited Retinal Dystrophies by Rodríguez-Muñoz, Ana, Aller, Elena, Jaijo, Teresa, González-García, Emilio, Cabrera-Peset, Ana, Gallego-Pinazo, Roberto, Udaondo, Patricia, Salom, David, García-García, Gema, Millán, José M.

“…A cohort of 172 patients diagnosed clinically with nonsyndromic retinal dystrophies, from 110 families underwent full ophthalmologic examination, including…”
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Diagnoses in HyperCKemia: study from classical aproach to the use of new technologies (NGS). (P3.447) by Marti, Pilar, Muelas, Nuria, Azorin, Immaculada, Jaijo, Teresa, Millan, Jose Maria, Padilla, Juan Vilchez

“…Abstract only…”
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STUB1 Mutations as Possible Genetic Modifiers in Spinocerebellar Ataxia Type 8 by Baviera‐Muñoz, Raquel, Carretero‐Vilarroig, Lidón, Pedro‐Ibor, Ana, Jaijo, Teresa, Del Valle‐Carranza, Andrea, Martínez‐Torres, Irene, Millán, Jose M., Bataller, Luis, Aller, Elena

“…Background Spinocerebellar ataxia type 8 (SCA8) is a dominantly inherited expansion disorder with highly variable penetrance. ATXN8OS/ATXN8 expanded alleles…”
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