Found: 30
Select item for more details and to access through your institution.
Spinocerebellar Ataxia 36 is a Frequent Cause of Hereditary Ataxia in Eastern Spain.
- Published in:
- Movement Disorders Clinical Practice, 2023, v. 10, n. 6, p. 992, doi. 10.1002/mdc3.13740
- By:
- Publication type:
- Article
Functional assays of non-canonical splice-site variants in inherited retinal dystrophies genes.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-021-03925-1
- By:
- Publication type:
- Article
Targeted next generation sequencing for molecular diagnosis of Usher syndrome.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 168, doi. 10.1186/s13023-014-0168-7
- By:
- Publication type:
- Article
Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 15, p. 8289, doi. 10.3390/ijms23158289
- By:
- Publication type:
- Article
Usher Syndrome: Genetics of a Human Ciliopathy.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 13, p. 6723, doi. 10.3390/ijms22136723
- By:
- Publication type:
- Article
An update on the genetics of Usher syndrome.
- Published in:
- 2011
- By:
- Publication type:
- Journal Article
Corrigendum: Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa.
- Published in:
- Scientific Reports, 2016, p. 24843, doi. 10.1038/srep24843
- By:
- Publication type:
- Article
Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa.
- Published in:
- Scientific Reports, 2016, p. 19531, doi. 10.1038/srep19531
- By:
- Publication type:
- Article
Analysis of the <i>Ush2a</i> Gene in Medaka Fish (<i>Oryzias latipes</i>).
- Published in:
- PLoS ONE, 2013, v. 8, n. 9, p. 1, doi. 10.1371/journal.pone.0074995
- By:
- Publication type:
- Article
Altered Antioxidant-Oxidant Status in the Aqueous Humor and Peripheral Blood of Patients with Retinitis Pigmentosa.
- Published in:
- PLoS ONE, 2013, v. 8, n. 9, p. 1, doi. 10.1371/journal.pone.0074223
- By:
- Publication type:
- Article
Study of USH1 Splicing Variants through Minigenes and Transcript Analysis from Nasal Epithelial Cells.
- Published in:
- PLoS ONE, 2013, v. 8, n. 2, p. 1, doi. 10.1371/journal.pone.0057506
- By:
- Publication type:
- Article
A DNA region of Torulaspora delbrueckii containing the HIS3 gene: sequence, gene order and evolution.
- Published in:
- Yeast, 2003, v. 20, n. 16, p. 1359, doi. 10.1002/yea.1040
- By:
- Publication type:
- Article
Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene.
- Published in:
- Human Genetics, 2009, v. 125, n. 1, p. 29, doi. 10.1007/s00439-008-0598-1
- By:
- Publication type:
- Article
A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss.
- Published in:
- Human Genetics, 2007, v. 121, n. 2, p. 203, doi. 10.1007/s00439-006-0304-0
- By:
- Publication type:
- Article
The USH2A c.2299delG mutation: dating its common origin in a Southern European population.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 7, p. 788, doi. 10.1038/ejhg.2010.14
- By:
- Publication type:
- Article
Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 5, p. 407, doi. 10.1038/sj.ejhg.5201138
- By:
- Publication type:
- Article
Clinical Aspects of Usher Syndrome and the USH2A Gene in a Cohort of 433 Patients.
- Published in:
- JAMA Ophthalmology, 2015, v. 133, n. 2, p. 157, doi. 10.1001/jamaophthalmol.2014.4498
- By:
- Publication type:
- Article
Genetic Screening of the Usher Syndrome in Cuba.
- Published in:
- Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00501
- By:
- Publication type:
- Article
Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment.
- Published in:
- Molecular Vision, 2020, v. 26, p. 216
- By:
- Publication type:
- Article
Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45–55 Deletion.
- Published in:
- Annals of Neurology, 2022, v. 92, n. 5, p. 793, doi. 10.1002/ana.26461
- By:
- Publication type:
- Article
STUB1 Mutations as Possible Genetic Modifiers in Spinocerebellar Ataxia Type 8.
- Published in:
- Movement Disorders, 2024, v. 39, n. 9, p. 1641, doi. 10.1002/mds.29910
- By:
- Publication type:
- Article
Intermediate Repeat Expansion in the ATXN2 Gene as a Risk Factor in the ALS and FTD Spanish Population.
- Published in:
- Biomedicines, 2024, v. 12, n. 2, p. 356, doi. 10.3390/biomedicines12020356
- By:
- Publication type:
- Article
Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B.
- Published in:
- Human Mutation, 2020, v. 41, n. 1, p. 265, doi. 10.1002/humu.23921
- By:
- Publication type:
- Article
High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative.
- Published in:
- Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-35085-0
- By:
- Publication type:
- Article
The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1.
- Published in:
- Human Molecular Genetics, 2006, v. 15, n. 5, p. 751, doi. 10.1093/hmg/ddi490
- By:
- Publication type:
- Article
Improving the Management of Patients with Hearing Loss by the Implementation of an NGS Panel in Clinical Practice.
- Published in:
- Genes, 2020, v. 11, n. 12, p. 1467, doi. 10.3390/genes11121467
- By:
- Publication type:
- Article
New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy.
- Published in:
- PLoS ONE, 2018, v. 13, n. 12, p. 1, doi. 10.1371/journal.pone.0207296
- By:
- Publication type:
- Article
Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families.
- Published in:
- PLoS ONE, 2018, v. 13, n. 6, p. 1, doi. 10.1371/journal.pone.0199048
- By:
- Publication type:
- Article
Mutations in Myosin VIIA ( MYO7A) and Usherin ( USH2A) in Spanish patients with usher syndrome types I and II, respectively.
- Published in:
- Human Mutation, 2002, v. 20, n. 1, p. 76, doi. 10.1002/humu.9042
- By:
- Publication type:
- Article