Found: 9
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Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene.
- Published in:
- Human Genetics, 2022, v. 141, n. 3/4, p. 431, doi. 10.1007/s00439-022-02444-x
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- Article
A pathogenic deletion in Forkhead Box L1 (FOXL1) identifies the first otosclerosis (OTSC) gene.
- Published in:
- Human Genetics, 2022, v. 141, n. 3/4, p. 965, doi. 10.1007/s00439-021-02381-1
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- Article
Identification of a novel in-frame deletion in KCNQ4 (DFNA2A) and evidence of multiple phenocopies of unknown origin in a family with ADSNHL.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 10, p. 1112, doi. 10.1038/ejhg.2013.5
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- Article
A novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomaly.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 3, p. 293, doi. 10.1038/ejhg.2010.210
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- Article
Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15.
- Published in:
- 2009
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- Correction Notice
Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 5, p. 554, doi. 10.1038/ejhg.2008.231
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- Publication type:
- Article
A Novel Deletion in SMPX Causes a Rare form of X-Linked Progressive Hearing Loss in Two Families Due to a Founder Effect.
- Published in:
- Human Mutation, 2013, v. 34, n. 1, p. 66, doi. 10.1002/humu.22205
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- Article
Disrupting the Repeat Domain of Premelanosome Protein (PMEL) Produces Dysamyloidosis and Dystrophic Ocular Pigment Reflective of Pigmentary Glaucoma.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 19, p. 14423, doi. 10.3390/ijms241914423
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- Article
FOXC1 modulates MYOC secretion through regulation of the exocytic proteins RAB3GAP1, RAB3GAP2 and SNAP25.
- Published in:
- PLoS ONE, 2017, v. 12, n. 6, p. 1, doi. 10.1371/journal.pone.0178518
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- Article