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Two new cases with microdeletion of 17q23.2 suggest presence of a candidate gene for sensorineural hearing loss within this region.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 2964, doi. 10.1002/ajmg.a.34302
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- Article
Genotype-Phenotype Correlation for DFNA22: Characterization of Non-Syndromic, Autosomal Dominant, Progressive Sensorineural Hearing Loss due to MYO6 Mutations.
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- Audiology & Neurotology, 2010, v. 15, n. 4, p. 211, doi. 10.1159/000255339
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- Publication type:
- Article
Correction to: The CAPOS mutation in <italic>ATP1A3</italic> alters Na/K-ATPase function and results in auditory neuropathy which has implications for management.
- Published in:
- 2018
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- Correction Notice
The CAPOS mutation in <italic>ATP1A3</italic> alters Na/K-ATPase function and results in auditory neuropathy which has implications for management.
- Published in:
- Human Genetics, 2018, v. 137, n. 2, p. 111, doi. 10.1007/s00439-017-1862-z
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- Article
Partial USH2A deletions contribute to Usher syndrome in Denmark.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1646, doi. 10.1038/ejhg.2015.54
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- Publication type:
- Article
Partial USH2A deletions contribute to Usher syndrome in Denmark.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1750, doi. 10.1038/ejhg.2015.131
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- Article
A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment.
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- European Journal of Human Genetics, 2006, v. 14, n. 10, p. 1097, doi. 10.1038/sj.ejhg.5201670
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- Article
Association of SLC26A4 mutations, morphology, and hearing in pendred syndrome and NSEVA.
- Published in:
- 2019
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- Publication type:
- journal article
The coding region of TP53INP2, a gene expressed in the developing nervous system, is not altered in a family with autosomal recessive non‐progressive infantile ataxia on chromosome 20q11‐q13.
- Published in:
- Developmental Dynamics, 2007, v. 236, n. 3, p. 843, doi. 10.1002/dvdy.21064
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- Article
Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1298, doi. 10.1002/ajmg.a.33970
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- Article
A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment.
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- PLoS Genetics, 2015, v. 11, n. 7, p. 1, doi. 10.1371/journal.pgen.1005386
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- Article
A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome.
- Published in:
- Human Mutation, 2012, v. 33, n. 8, p. 1251, doi. 10.1002/humu.22106
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- Publication type:
- Article
Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/ TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations.
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- Human Mutation, 2005, v. 26, n. 4, p. 374, doi. 10.1002/humu.20227
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- Publication type:
- Article
Novel Pathogenic Variants in PJVK , the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder.
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- Genes, 2022, v. 13, n. 1, p. 149, doi. 10.3390/genes13010149
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- Article
The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome.
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- Movement Disorders, 2012, v. 27, n. 8, p. 1034, doi. 10.1002/mds.25033
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- Publication type:
- Article