Estudio de mutaciones ocultas en pacientes con sindrome de Usher.

Datos básicos

Protocolo:
2018_0675_CRC_MILLAN
EUDRACT:
NCT:
Centro:
Año de incio:
2018
Año de finalización:
2019
PI BIOMÉDICA NACIONAL Finan. Competitiva Privada 14.000,00 €

Objetivos del proyecto

CONCEDIDO

Documentos

  • No hay documentos

Participantes

Grupos

Financiadores - Promotores

FUNDACION ONCE

Resultados del Ensayo Clínico


CPH-RP variants disrupt ciliogenesis of the retinal pigment epithelium: a novel cause of retinitis pigmentosa

Kalatzis, Vasiliki; (...); Perron, Muriel

Meeting Abstract. 2023

  • Open Access.

Application of CRISPR Tools for Variant Interpretation and Disease Modeling in Inherited Retinal Dystrophies

Fuster-Garcia, C; (...); Garcia-Garcia, G

Review. 10.3390/genes11050473. 2020

  • Open Access.

Association between upper and lower respiratory disease among patients with primary ciliary dyskinesia: an international study.

Lam, Yin Ting; (...); Goutaki, Myrofora

Article. 10.1183/23120541.00932-2023. 2024

  • Open Access.

Association between upper and lower respiratory disease in primary ciliary dyskinesia

Lam, Yin Ting; (...); Goutaki, Myrofora

Meeting Abstract. 10.1183/13993003.congress-2023.PA2765. 2023


Augmentation of Scarred Vocal Folds With Centrifuged and Emulsified Autologous Fat Grafts.

Salmerón-González E; (...); Armengot-Carceller M

Article. 10.1177/0194599820932836. 2020


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

Blanco-Máñez R; (...); Vera-Sempere F

Article. 10.3390/diagnostics12010129. 2022

  • Open Access.

Case Report: Partial Uniparental Disomy Unmasks a Novel Recessive Mutation in the LYST Gene in a Patient With a Severe Phenotype of Chediak-Higashi Syndrome.

Boluda-Navarro, Mireia; (...); Cervera, Jose Vicente

Article. 10.3389/fimmu.2021.625591. 2021

  • Open Access.

Cavernous Sinus Thrombosis Secondary to Streptococcus Constellatus Pharynges

Jaramillo-Angel, Natalia; (...); Carceller, Miguel Armengot

Article. 10.1007/s12070-024-04511-3. 2024

  • Open Access.

CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.

Luque J; (...); Lapunzina P

Article. 10.1111/cge.14113. 2022

  • Open Access.

Clinical and Genetic Analysis of Patients With TK2 Deficiency.

Ceballos F; (...); Domínguez-González C

Article. 10.1212/NXG.0000000000200138. 2024

  • Open Access.

Clinical and genetic characteristics of 21 Spanish patients with biallelic pathogenic SPG7 mutations.

Baviera-Muñoz R; (...); Espinós C

Article. 10.1016/j.jns.2021.118062. 2021


Clinical features, mutation spectrum and factors related to reaching molecular diagnosis in a cohort of patients with distal myopathies.

Muelas, Nuria; (...); Vilchez, Juan J

Article. 10.1007/s00415-024-12821-3. 2025


Comparison of a Traditional and Novel Evoked Compound Action Potentials Recording Approach and Evoked Auditory Brainstem Responses in Pediatric Cochlear Implants Users

Garrido, LC; (...); Carceller, MA

Article. 10.5152/iao.2018.5591. 2018

  • Open Access.

Concomitant mutations in inherited retinal dystrophies: why the reproductive and therapeutic counselling should be addressed cautiously.

Rodriguez-Munoz, Ana; (...); Millan, Jose

Article. 10.1097/IAE.0000000000003103. 2021

  • Open Access.

Consensus definition of sinonasal and otologic exacerbation in patients with primary ciliary dyskinesia

Goutaki, Myrofora; (...); Papon, Jean-Francois

Meeting Abstract. 10.1183/13993003.congress-2024.OA1989. 2024

  • Open Access.

Changes in lipid metabolism driven by steroid signalling modulate proteostasis in C. elegans.

Gomez-Escribano, Ana P.; (...); Vazquez-Manrique, Rafael P.

Article. 10.15252/embr.202255556. 2023

  • Open Access.

Characteristics of Otologic Disease Among Patients With Primary Ciliary Dyskinesia.

Goutaki, Myrofora; (...); Papon, Jean-Francois

Article. 10.1001/jamaoto.2023.0841. 2023

  • Open Access.

Deciphering complexity: TULP1 variants linked to an atypical retinal dystrophy phenotype.

Esteve-Garcia A; (...); Aguilera C

Article. 10.3389/fgene.2024.1352063. 2024

  • Open Access.

Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2

Blasco-Perez, Laura; (...); Tizzano, Eduardo F.

Article. 10.3390/ijms23158289. 2022

  • Open Access.

Definition of sinonasal and otological exacerbation in patients with primary ciliary dyskinesia: an expert consensus.

Goutaki, Myrofora; (...); Papon, Jean-Francois

Article. 10.1183/23120541.00218-2024. 2024

  • Open Access.

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

Baviera-Munoz, Raquel; (...); Aller, Elena

Article. 10.1212/NXG.0000000000200038. 2022

  • Open Access.

Dizziness Evaluation and Characterisation of Patients with Posterior Circulation Stroke in the Emergency De- partment; a Case Series Study

Saro-Buendia, Miguel; (...); Armengot Carceller, Miguel

Article. 10.22037/aaem.v11i1.1764. 2023


Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45-55 Deletion

Poyatos-Garcia, Javier; (...); Jesus Vilchez, Juan

Article. 10.1002/ana.26461. 2022

  • Open Access.

Editorial: Inherited retinal dystrophies: a light at the end of the tunnel?

Perkins, Brian D.; (...); Millan, Jose M.

Editorial Material. 10.3389/fcell.2023.1301279. 2023

  • Open Access.

Effects of Omalizumab Treatment in Patients With Recalcitrant Nasal Polyposis and Mild Asthma: A Multicenter Retrospective Study.

Armengot-Carceller M; (...); Piñero AG

Article. 10.1177/1945892420972326. 2020

  • Open Access.

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

Gil-Perotín S; (...); Díaz S

Article. 10.1007/s10072-020-04961-x. 2021


Epileptic crisis by pneumoencephalon as the first manifestation of an ethmoid-frontal osteoma

Solavera, R; (...); Armengot, M

Editorial Material. 10.1016/j.otorri.2018.03.006. 2019


Evaluation of machine learning models for the detection of familial predisposition in Meniere's disease

Roman-Naranjo, Pablo; (...); Lopez-Escamez, Antonio

Meeting Abstract. 2024

  • Open Access.

Evolución de la incidencia de las enfermedades infecciosas del área ORL en edad pediátrica durante la pandemia COVID-19.

Torres-García L; (...); Carceller MA

Article. 10.1016/j.otorri.2022.07.005. 2023

  • Open Access.

Evolution in the incidence of infectious diseases in the pediatric ENT area during the COVID-19 pandemic.

Torres-Garcia, Lidia; (...); Carceller MA

Article. 10.1016/j.otoeng.2022.11.007. 2022

  • Open Access.

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

Garcia-Garcia, Gema; (...); Ayuso, Carmen

Article. 2020


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

Rodríguez-Muñoz A; (...); Millán JM

Article. 10.1016/j.jmoldx.2020.01.003. 2020

  • Open Access.

Expanding the Genetic Landscape of Usher-Like Phenotypes.

Fuster-García C; (...); Millán JM

Article. 10.1167/iovs.19-27470. 2019

  • Open Access.

Exploring non-coding variants and evaluation of antisense oligonucleotides for splicing redirection in Usher syndrome.

Garcia-Bohorquez, Belen; (...); Millan, Jose M

Article. 10.1016/j.omtn.2024.102374. 2024

  • Open Access.

Fallopian Canal Meningocele Causing Cerebrospinal Fluid Rhinorrhoea

Saro-Buendia, Miguel; (...); Carceller, Miguel Armengot

Article. 10.1007/s12070-023-03963-3. 2023

  • Open Access.

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

Rodriguez-Munoz, Ana; (...); Garcia-Garcia, Gema

Article. 10.1038/s41598-021-03925-1. 2022

  • Open Access.

Generation of the First Human In Vitro Model for McArdle Disease Based on iPSC Technology

del Carmen Ortuno-Costela, Maria; (...); Esther Gallardo, Maria

Article. 10.3390/ijms232213964. 2022

  • Open Access.

Genetic diagnostic of inherited retinal dystrophies through clinical exome sequencing

Barberan-Martinez, Pilar; (...); Millan, Jose M.

Meeting Abstract. 2024


Genetic Screening of the Usher Syndrome in Cuba

Santana, EE; (...); Lantigua, A

Article. 10.3389/fgene.2019.00501. 2019

  • Open Access.

Genetic Testing for Rare Diseases

Millan, Jose M., Garcia-Garcia, Gema

Article. 10.3390/diagnostics12040809. 2022

  • Open Access.

Genetics, pathogenesis and therapeutic developments for Usher syndrome type 2

Stemerdink M; (...); Millan JM

Article. 10.1007/s00439-021-02324-w. 2021


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

Galbis-Martínez L; (...); Ayuso C

Article. 10.1111/aos.14795. 2021

  • Open Access.

Giant deep lobe parotid tumor removal via total parotidectomy without mandibulotomy. A simple and safe technique.

Borrás-Ferreres J, Armengot-Carceller M

Case Reports. 10.4317/jced.57202. 2021

  • Open Access.

Giant Solitary Sinonasal Enchondroma: A Rare Case Report.

Almanzo S; (...); Armengot Carceller M

Article. 10.1007/s12070-024-04620-z. 2024

  • Open Access.

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

Campins-Romeu, M; (...); Martinez-Torres, I

Letter. 10.1002/mdc3.13257. 2021

  • Open Access.

Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B.

Palencia-Campos A; (...); Ruiz-Pérez VL

Article. 10.1002/humu.23921. 2020


High-Speed Video Microscopy for Primary Ciliary Dyskinesia Diagnosis: A Study of Ciliary Motility Variations with Time and Temperature

Reula, Ana; (...); Armengot, Miguel

Article. 10.3390/diagnostics11071301. 2021

  • Open Access.

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

Fuster-Garcia, C; (...); Millan, JM

Article. 10.1038/s41598-018-35085-0. 2018

  • Open Access.

Immunofluorescence Analysis as a Diagnostic Tool in a Spanish Cohort of Patients with Suspected Primary Ciliary Dyskinesia.

Baz-Redón N; (...); Moreno-Galdó A

Article. 10.3390/jcm9113603. 2020

  • Open Access.

Implementation of a Gene Panel for Genetic Diagnosis of Primary Ciliary Dyskinesia.

Baz-Redón N; (...); Moreno-Galdó A

Article. 10.1016/j.arbres.2020.02.010. 2021


Implementation of a gene panel for the genetic diagnosis of primary ciliary dyskinesia

Rovira Amigo, Sandra; (...); Moreno Galdo, Antonio

Meeting Abstract. 10.1183/13993003.congress-2020.5293. 2020


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

Garcia-Garcia, Gema; (...); Aller, Elena

Article. 10.3390/genes11121467. 2020

  • Open Access.

Intermediate Repeat Expansion in the ATXN2 Gene as a Risk Factor in the ALS and FTD Spanish Population.

Borrego-Hernandez, Daniel; (...); Garcia-Redondo, Alberto

Article. 10.3390/biomedicines12020356. 2024

  • Open Access.

Intralabyrinthine neurinoma: Management, exeresis and auditory restoration with cochlear implant.

Pastor Gomis B; (...); Armengot Carceller M

Case Reports. 10.1016/j.otorri.2020.07.002. 2021


Intralabyrinthine neurinoma: Management, exeresis and auditory restoration with cochlear implant.

Pastor Gomis, Blanca; (...); Armengot Carceller, Miguel

Article. 10.1016/j.otoeng.2020.07.001. 2021


Intravitreal administration of adalimumab delays retinal degeneration in rd10 mice.

Olivares-González L; (...); Rodrigo R

Article. 10.1096/fj.202000044RR. 2020

  • Open Access.

Labyrinthine Bifurcation of the Facial Nerve

Saro-Buendia, Miguel; (...); Carceller, Miguel Armengot

Article. 10.1007/s12070-023-03977-x. 2023

  • Open Access.

Lack of Correlation of Sinonasal and Otologic Reported Symptoms With Objective Measurements Among Patients With Primary Ciliary Dyskinesia: An International Study.

Lam YT; (...); Goutaki M

Article. 10.21053/ceo.2023.01130. 2023

  • Open Access.

Langerhans cell histiocytosis of the head and neck in the pediatric population in a tertiary center: Clinical presentation, classification and treatment.

García Díaz MP; (...); Carceller, Miguel Armengot

Article. 10.1016/j.ijporl.2022.111073. 2022


Late Breaking Abstract - Aldo-keto reductases expression correlate corticoids efficacy in vitro and on chronic rhinosinusitis with nasal polyps

Morell, Anselm; (...); Wsol, Vladimir

Meeting Abstract. 10.1183/13993003.congress-2021.PA891. 2021


Lipid Oxidation at the Crossroads: Oxidative Stress and Neurodegeneration Explored in Caenorhabditis elegans

Tortajada-Perez, Julia; (...); Vazquez-Manrique, Rafael Pascual

Review. 10.3390/antiox14010078. 2025

  • Open Access.

Long-read sequencing for improving the characterization of rare inherited eye diseases

Rodilla, Cristina; (...); Ayuso, Carmen

Meeting Abstract. 2024


Low grade mucoepidermoid carcinoma of a minor salivary gland of the tongue in a paediatric patient.

Gamarra, MFV, Vilmana, JMP, Carceller, MA

Editorial Material. 10.1016/j.otorri.2017.08.005. 2018


Macular retinal vessel density assessment of the superficial, deep plexus and choriocapillaris in patients with retinitis pigmentosa and in healthy individuals using SS-OCT Angiography

Valencia-Perez, C; (...); Millan, JM

Meeting Abstract. 2019

  • Open Access.

Management of iodine contrast induced salivary gland swelling (sialadenitis): experiences from an observational study.

Saro-Buendía M; (...); Armengot Carceller M

Article. 10.1080/00016489.2022.2162121. 2023


Metformin to treat Huntington disease: a pleiotropic drug against a multi-system disorder.

Trujillo-Del Río C; (...); Vázquez-Manrique RP

Article. 10.1016/j.mad.2022.111670. 2022


Metformin treatment reduces motor and neuropsychiatric phenotypes in the zQ175 mouse model of Huntington disease

Sanchis, A; (...); Vazquez-Manrique, RP

Article. 10.1038/s12276-019-0264-9. 2019

  • Open Access.

Micro-RNA regulation of the angiogenic response in the diabetic retina.

Campos-Borges HC; (...); Pinazo-Duran MD

Editorial Material. 10.1016/j.oftal.2019.09.003. 2020


miRNAs and Genes Involved in the Interplay between Ocular Hypertension and Primary Open-Angle Glaucoma. Oxidative Stress, Inflammation, and Apoptosis Networks

Raga-Cervera, J; (...); Zanon-Moreno, V

Article. 10.3390/jcm10112227. 2021

  • Open Access.

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

Garcia-Llorens, Guillem; (...); Bort, Roque

Article. 10.3390/jpm12071111. 2022

  • Open Access.

MODELING OF IDH2 GENE MUTATIONS IN THE CAENORHABDITIS ELEGANS ORGANISM. DEVELOPMENT OF A NEW STUDY MODEL

Gonzalez-Romero, E.; (...); Cervera-Zamora, J.

Meeting Abstract. 2021

  • Open Access.

Molecular and Clinical Predictors of Quality of Life in Chronic Rhinosinusitis with Nasal Polyps.

Brunet, Aina; (...); Armengot, Miguel

Article. 10.3390/jcm12041391. 2023

  • Open Access.

New Laboratory Protocol to Determine the Oxidative Stress Profile of Human Nasal Epithelial Cells Using Flow Cytometry

Reula, A; (...); Dasi, F

Article. 10.3390/jcm10061172. 2021

  • Open Access.

New mutation in NRAS in familial Noonan syndrome

Zuniga, A; (...); Pi, G

Meeting Abstract. 2018


New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy

Moreau-Le Lan, S; (...); Pedrola, L

Article. 10.1371/journal.pone.0207296. 2018

  • Open Access.

NUTRARET: Effect of 2-Year Nutraceutical Supplementation on Redox Status and Visual Function of Patients With Retinitis Pigmentosa: A Randomized, Double-Blind, Placebo-Controlled Trial

Olivares-Gonzalez, Lorena; (...); Rodrigo, Regina

Article. 10.3389/fnut.2022.847910. 2022

  • Open Access.

Odontogenic maxillary sinusitis and fungus ball development secondary to a dental root retained for more than 25 years. A case report.

Borrás-Ferreres J, Armengot-Carceller M, Gay-Escoda C

Case Reports. 10.4317/jced.59663. 2022

  • Open Access.

Otologic features in patients with Primary Ciliary Dyskinesia - an EPIC-PCD study

Goutaki, M.; (...); Papon, J-F

Meeting Abstract. 10.1055/s-0042-1754486. 2022


Outcomes of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in the Valencian Community.

Berzal-Serrano, Alba; (...); Millan, Jose M

Article. 10.3390/ijns11010007. 2025


Oxidative Stress, a Crossroad between Rare Diseases and Neurodegeneration

Espinos, C; (...); Pallardo, FV

Review. 10.3390/antiox9040313. 2020

  • Open Access.

PCR-Based Strategy for Introducing CRISPR/Cas9 Machinery into Hematopoietic Cell Lines.

González-Romero E; (...); Vázquez-Manrique RP

Article. 10.3390/cancers15174263. 2023

  • Open Access.

Pilot study for the implementation of newborn screening for spinal muscular atrophy in Valencia

Berzal-Serrano, Alba; (...); Millan, Jose M.

Meeting Abstract. 10.2174/1871530323666230914122955. 2024

  • Open Access.

Posterior Lingual Abscess; Report of Two Cases.

Saro-Buendia, Miguel; (...); Armengot Carceller, Miguel

Case Reports. 10.22037/aaem.v11i1.1860. 2023


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

Vazquez-Costa, JF; (...); SEVILLA, T

Article. 10.3389/fnmol.2021.721047. 2021

  • Open Access.

Prevalent ALMS1 Pathogenic Variants in Spanish Alström Patients.

Bea-Mascato B; (...); Valverde D

Article. 10.3390/genes12020282. 2021

  • Open Access.

Progress in the genetic diagnosis of inherited retinal dystrophies

Rodriguez-Munoz, A; (...); Jaijo, T

Meeting Abstract. 2018


Reactive Species in Huntington Disease: Are They Really the Radicals You Want to Catch?

Bono-Yagüe J; (...); Vázquez-Manrique RP

Review. 10.3390/antiox9070577. 2020

  • Open Access.

Redox Imbalance in Nasal Epithelial Cells of Primary Ciliary Dyskinesia Patients.

Reula, Ana; (...); Dasi, Francisco

Article. 10.3390/antiox13020190. 2024

  • Open Access.

Redox Status in Retinitis Pigmentosa.

Olivares-González L; (...); Rodrigo R

Article. 10.1007/978-3-031-27681-1_65. 2023


Repair of the prevalent c.2299delG mutation in the USH2A gene using CRISPR/Cas9 nucleases

Fuster-Garcia, C; (...); Aller, E

Meeting Abstract. 2018


Response to "Augmentation of Scarred Vocal Folds With Centrifuged and Emulsified Autologous Fat Grafts''

Salmeron-Gonzalez, E; (...); Armengot-Carceller, M

Letter. 10.1177/0194599821991484. 2021


Role of Immunofluorescence and Molecular Diagnosis in the Characterization of Primary Ciliary Dyskinesia

Baz-Redon, N; (...); Moreno-Galdo, A

Letter. 10.1016/j.arbres.2019.01.021. 2019


Severe Hypoplasia of Paranasal Sinuses and Turbinates.

Saro-Buendia, Miguel, Gomez-Gomez, Maria Jose, Armengot-Carceller, Miguel

Article. 10.1001/jamaoto.2024.0674. 2024

  • Open Access.

Shift in the profile and prognostic implications in invasive fungal rhinosinusitis: experience of 10 years in a tertiary center

Mellidez-Acosta, Raul; (...); Garcia-Pinero, Alfonso

Article. 10.1186/s43163-024-00750-x. 2025


Sinonasal disease among patients with primary ciliary dyskinesia: an international study.

Lam YT; (...); Goutaki M

Article. 10.1183/23120541.00701-2022. 2023

  • Open Access.

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

Baviera-Munoz, Raquel; (...); Bataller, Luis

Article. 10.1002/mdc3.13740. 2023

  • Open Access.

STEROID HORMONE SIGNALING MAY REGULATE HOMEOSTASIS OF POLYQ-CONTAINING PROTEINS IN C. ELEGANS

Gomez-Escribano, A. P.; (...); Vazquez-Manrique, R.

Meeting Abstract. 10.1136/jnnp-2018-EHDN.26. 2018


Stimulator of interferon genes-associated vasculopathy with onset in infancy (SAVI syndrome).

Saro-Buendia, M; (...); Armengot-Carceller, M

Article. 10.1016/j.anorl.2024.11.008. 2024

  • Open Access.

STUB1 Mutations as Possible Genetic Modifiers in Spinocerebellar Ataxia Type 8.

Baviera-Munoz, Raquel; (...); Aller, Elena

Article. 10.1002/mds.29910. 2024

  • Open Access.

STUDY OF TRANSCRIPTIONAL DIFFERENCES BETWEEN THE IDH2 R140 AND R172 MUTATIONS BY MEANS OF MODELING IN THE ORGANISM CAENORHABDITIS ELEGANS

Gonzalez, Romero Elisa; (...); Cervera, Jose Vicente

Meeting Abstract. 2020

  • Open Access.

Synergistic activation of AMPK prevents from polyglutamine-induced toxicity in Caenorhabditis elegans.

Gómez-Escribano AP; (...); Vázquez-Manrique RP

Article. 10.1016/j.phrs.2020.105105. 2020

  • Open Access.

SYNERGISTIC COMBINATIONS OF METFORMIN AND SALICYLATE REDUCE POLYGLUTAMINE TOXICITY IN C. ELEGANS

Bono-Yague, Jose; (...); Vazquez-Manrique, Rafael

Meeting Abstract. 10.1136/jnnp-2018-EHDN.256. 2018


TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa.

Bocquet, Beatrice; (...); Kalatzis, Vasiliki

Article. 10.1172/jci.insight.169426. 2023

  • Open Access.

The disease-specific clinical trial network for primary ciliary dyskinesia: PCD-CTN.

Raidt, Johanna; (...); Nielsen, Kim G.

Article. 10.1183/23120541.00139-2022. 2022

  • Open Access.

TRANSCRIPTOMICAL ANALYSIS AND MODELING IN C.ELEGANS OF THE IDH2 R140 R172 MUTATION

Gonzalez-Romero, E.; (...); Cervera-Zamora, J., V

Meeting Abstract. 2019

  • Open Access.

Understanding Primary Ciliary Dyskinesia: Experience From a Mediterranean Diagnostic Reference Centre

Armengot-Carceller, M; (...); Carda-Batalla, C

Article. 10.3390/jcm9030810. 2020

  • Open Access.

Uniparental Disomy of chromosome 16 as a cause of Primary Ciliary Dyskinesia

Carretero-Vilarroig, Lidon; (...); Jaijo, Teresa

Meeting Abstract. 2024

  • Open Access.

Updating the Genetic Landscape of Inherited Retinal Dystrophies

Bohorquez, Belen Garcia; (...); Millán JM

Article. 10.3389/fcell.2021.645600. 2021

  • Open Access.

Use of CGH-array in paraffin-tissue samples of fetus with congenital defects

Pi, G; (...); Zuniga, A

Meeting Abstract. 2018


USE OF CRISPR/CAS9 TECHNOLOGY TO MODIFY THE IDH2 GENE IN BOTH IN-VIVO AND IN-VITRO MODELS

Gonzalez Romero, E.; (...); Cervera, J., V

Meeting Abstract. 2018

  • Open Access.

USH2A is a Meissner's corpuscle protein necessary for normal vibration sensing in mice and humans.

Schwaller F; (...); Lewin GR

Article. 10.1038/s41593-020-00751-y. 2021

  • Open Access.

Usher Syndrome: Genetics of a Human Ciliopathy

Fuster-García C; (...); García-García G

Review. 10.3390/ijms22136723. 2021

  • Open Access.

When the Nose Meets the Lab: Histopathological Analysis in Chronic Rhinosinusitis with Nasal Polyps for Routine Clinical Practice.

Alobid, Isam; (...); Mullol, Joaquim

Article. 10.1007/s11882-024-01180-8. 2024

  • Open Access.

Compartir