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Minigene-Based Splice Assays Reveal the Effect of Non-Canonical Splice Site Variants in USH2A.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 21, p. 13343, doi. 10.3390/ijms232113343
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- Publication type:
- Article
Efficient Generation of Knock-In Zebrafish Models for Inherited Disorders Using CRISPR-Cas9 Ribonucleoprotein Complexes.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 17, p. 9429, doi. 10.3390/ijms22179429
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- Publication type:
- Article
Zebrafish as a Model to Evaluate a CRISPR/Cas9-Based Exon Excision Approach as a Future Treatment Option for EYS -Associated Retinitis Pigmentosa.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 17, p. 9154, doi. 10.3390/ijms22179154
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- Publication type:
- Article
Molecular Inversion Probe-Based Sequencing of USH2A Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 12, p. 6419, doi. 10.3390/ijms22126419
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- Publication type:
- Article
The Impact of Modern Technologies on Molecular Diagnostic Success Rates, with a Focus on Inherited Retinal Dystrophy and Hearing Loss.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 6, p. 2943, doi. 10.3390/ijms22062943
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- Publication type:
- Article
Naturally occurring testis-specific histone H3 antisense transcripts in Drosophila.
- Published in:
- Molecular Reproduction & Development, 1997, v. 48, n. 4, p. 413, doi. 10.1002/(SICI)1098-2795(199712)48:4<413::AID-MRD1>3.0.CO;2-T
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- Article
The natural history and genotype–phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis.
- Published in:
- Human Genetics, 2024, v. 143, n. 5, p. 721, doi. 10.1007/s00439-024-02648-3
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- Publication type:
- Article
Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants.
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- Human Genetics, 2022, v. 141, n. 11, p. 1723, doi. 10.1007/s00439-022-02441-0
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- Article
Novel gene discovery for hearing loss and other routes to increased diagnostic rates.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 383, doi. 10.1007/s00439-021-02374-0
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- Publication type:
- Article
A canonical splice site mutation in GIPC3 causes sensorineural hearing loss in a large Pakistani family.
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- Journal of Human Genetics, 2014, v. 59, n. 12, p. 683, doi. 10.1038/jhg.2014.86
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- Publication type:
- Article
Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome.
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- Journal of Human Genetics, 2013, v. 58, n. 12, p. 819, doi. 10.1038/jhg.2013.101
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- Publication type:
- Article
Genetic Evaluation of Prelingual Hearing Impairment: Recommendations of an European Network for Genetic Hearing Impairment.
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- Audiology Research, 2023, v. 13, n. 3, p. 341, doi. 10.3390/audiolres13030029
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- Publication type:
- Article
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C.
- Published in:
- Nature Genetics, 2010, v. 42, n. 2, p. 160, doi. 10.1038/ng.508
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- Article
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.
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- Nature Genetics, 2001, v. 29, n. 4, p. 465, doi. 10.1038/ng772
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- Article
Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family.
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- 2011
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- Publication type:
- journal article
Progressive Sensorineural Hearing Loss and Normal Vestibular Function in a Dutch DFNB7/11 Family with a Novel Mutation in TMC1.
- Published in:
- Audiology & Neurotology, 2011, v. 16, n. 2, p. 93, doi. 10.1159/000313282
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- Publication type:
- Article
Vestibular Impairment in a Dutch DFNA15 Family with an L289F Mutation in POU4F3.
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- Audiology & Neurotology, 2009, v. 14, n. 5, p. 303, doi. 10.1159/000212109
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- Publication type:
- Article
Clinical Characteristics of a Dutch DFNA9 Family with a Novel COCH Mutation, G87W.
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- Audiology & Neurotology, 2007, v. 12, n. 2, p. 77, doi. 10.1159/000097794
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- Publication type:
- Article
Genetic Spectrum of Autosomal Recessive Non-Syndromic Hearing Loss in Pakistani Families.
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- PLoS ONE, 2014, v. 9, n. 6, p. 1, doi. 10.1371/journal.pone.0100146
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- Publication type:
- Article
An inactivating mutation of the luteinizing hormone receptor causes amenorrhea in a 46,XX female.
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- Journal of Clinical Endocrinology & Metabolism, 1996, v. 81, n. 11, p. 3850, doi. 10.1210/jcem.81.11.8923827
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- Publication type:
- Article
De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment.
- Published in:
- Human Genetics, 2019, v. 138, n. 1, p. 61, doi. 10.1007/s00439-018-1965-1
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- Publication type:
- Article
Multiple enhancers located in a 1-Mb region upstream of POU3F4 promote expression during inner ear development and may be required for hearing.
- Published in:
- Human Genetics, 2010, v. 128, n. 4, p. 411, doi. 10.1007/s00439-010-0864-x
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- Publication type:
- Article
Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11).
- Published in:
- Human Genetics, 2004, v. 115, n. 2, p. 149, doi. 10.1007/s00439-004-1137-3
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- Publication type:
- Article
Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family.
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- Human Genetics, 2003, v. 112, n. 2, p. 156, doi. 10.1007/s00439-002-0833-0
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- Publication type:
- Article
Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations.
- Published in:
- Human Genetics, 2002, v. 110, n. 5, p. 389, doi. 10.1007/s00439-002-0719-1
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- Publication type:
- Article
Fine mapping of the neurally expressed gene SOX14 to human 3q23, relative to three congenital diseases.
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- Human Genetics, 2000, v. 106, n. 4, p. 432, doi. 10.1007/s004390000266
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- Publication type:
- Article
Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant.
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- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00306-z
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- Publication type:
- Article
Genotype-Phenotype Correlations of Pathogenic COCH Variants in DFNA9: A HuGE Systematic Review and Audiometric Meta-Analysis.
- Published in:
- Biomolecules (2218-273X), 2022, v. 12, n. 2, p. 220, doi. 10.3390/biom12020220
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- Article
Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5.
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- European Journal of Human Genetics, 2015, v. 23, n. 2, p. 189, doi. 10.1038/ejhg.2014.83
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- Publication type:
- Article
Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancer.
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- European Journal of Human Genetics, 2008, v. 16, n. 12, p. 1430, doi. 10.1038/ejhg.2008.110
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- Publication type:
- Article
Novel PTEN mutations in patients with Cowden disease: absence of clear genotype–phenotype correlations.
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- European Journal of Human Genetics, 1999, v. 7, n. 3, p. 267, doi. 10.1038/sj.ejhg.5200289
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- Publication type:
- Article
Intrafamilial Variable Hearing Loss in TRPV4 Induced Spinal Muscular Atrophy.
- Published in:
- Annals of Otology, Rhinology & Laryngology, 2014, v. 123, n. 12, p. 859, doi. 10.1177/0003489414539130
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- Publication type:
- Article
Audiometric and Vestibular Features in a Second Dutch DFNA20/26 Family With a Novel Mutation in ACTG1.
- Published in:
- Annals of Otology, Rhinology & Laryngology, 2009, v. 118, n. 5, p. 382, doi. 10.1177/000348940911800511
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- Publication type:
- Article
Mild and Variable Audiometric and Vestibular Features in a Third DFNA15 Family With a Novel Mutation in POU4F3.
- Published in:
- Annals of Otology, Rhinology & Laryngology, 2009, v. 118, n. 4, p. 313, doi. 10.1177/000348940911800413
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- Publication type:
- Article
Phenotype Description of a Novel DFNA9/COCH Mutation, 1109T.
- Published in:
- Annals of Otology, Rhinology & Laryngology, 2007, v. 116, n. 5, p. 349, doi. 10.1177/000348940711600506
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- Publication type:
- Article
LONGITUDINAL PHENOTYPIC ANALYSIS IN PATIENTS WITH CONNEXIN 26 (GJB2) (DFNB1) AND CONNEXIN 30 (GJB6) MUTATIONS.
- Published in:
- Annals of Otology, Rhinology & Laryngology, 2004, v. 113, n. 7, p. 587, doi. 10.1177/000348940411300714
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- Publication type:
- Article
KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome.
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- Genome Biology, 2015, v. 16, p. 1, doi. 10.1186/s13059-015-0858-z
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- Publication type:
- Article
Comparison of 12 Reference Genes for Normalization of Gene Expression Levels in Epstein-Barr Virus-Transformed Lymphoblastoid Cell Lines and Fibroblasts.
- Published in:
- Molecular Diagnosis & Therapy, 2006, v. 10, n. 3, p. 197, doi. 10.1007/BF03256458
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- Publication type:
- Article
An Atypical Form of Bullous Congenital Ichthyosiform Erythroderma is Caused by a Mutation in the L12 Linker Region of Keratin 1.
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- Journal of Investigative Dermatology, 1998, v. 111, n. 6, p. 1224, doi. 10.1046/j.1523-1747.1998.00389.x
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- Publication type:
- Article
Trends in genetic diagnostics of hereditary hearing loss.
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- 2016
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- Publication type:
- Abstract
Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations.
- Published in:
- 2011
- By:
- Publication type:
- journal article
A Novel TECTA Mutation in a Dutch DFNA8/12 Family Confirms Genotype–Phenotype Correlation.
- Published in:
- JARO - Journal of the Association for Research in Otolaryngology, 2006, v. 7, n. 2, p. 173, doi. 10.1007/s10162-006-0033-z
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- Publication type:
- Article
Phosphorylation of the Usher syndrome 1G protein SANS controls Magi2-mediated endocytosis.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 15, p. 3923, doi. 10.1093/hmg/ddu104
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- Publication type:
- Article
Genetic Linkage of the Keratin Type II Gene Cluster with Ichthyosis Bullosa of Siemens and with Autosomal Dominant Ichthyosis Exfoliativa.
- Published in:
- Journal of Investigative Dermatology, 1994, v. 103, n. 3, p. 282, doi. 10.1111/1523-1747.ep12394335
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- Publication type:
- Article
Ichthyosis Bullosa of Siemens Is Caused by Mutations in the Keratin 2e Gene.
- Published in:
- Journal of Investigative Dermatology, 1994, v. 103, n. 3, p. 286, doi. 10.1111/1523-1747.ep12394414
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- Publication type:
- Article
Generation and Characterization of a Zebrafish Model for ADGRV1- Associated Retinal Dysfunction Using CRISPR/Cas9 Genome Editing Technology.
- Published in:
- Cells (2073-4409), 2023, v. 12, n. 12, p. 1598, doi. 10.3390/cells12121598
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- Publication type:
- Article
The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking.
- Published in:
- PLoS Genetics, 2015, v. 11, n. 10, p. 1, doi. 10.1371/journal.pgen.1005575
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- Publication type:
- Article
NINL and DZANK1 Co-function in Vesicle Transport and Are Essential for Photoreceptor Development in Zebrafish.
- Published in:
- PLoS Genetics, 2015, v. 11, n. 10, p. 1, doi. 10.1371/journal.pgen.1005574
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- Publication type:
- Article
A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment.
- Published in:
- PLoS Genetics, 2015, v. 11, n. 7, p. 1, doi. 10.1371/journal.pgen.1005386
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- Publication type:
- Article
Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.
- Published in:
- Human Mutation, 2018, v. 39, n. 11, p. 1593, doi. 10.1002/humu.23630
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- Article