Found: 13
Select item for more details and to access through your institution.
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
Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 9, p. 2594, doi. 10.1093/hmg/ddv022
- By:
- Publication type:
- Article
Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 2, p. 286, doi. 10.1038/ejhg.2013.150
- By:
- Publication type:
- Article
A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 8, p. 1076, doi. 10.1038/ejhg.2008.273
- By:
- Publication type:
- Article
An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 1, p. 80, doi. 10.1038/ejhg.2008.143
- By:
- Publication type:
- Article
OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67).
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0238-5
- By:
- Publication type:
- Article
OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67).
- Published in:
- 2015
- By:
- Publication type:
- journal article
Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3.
- Published in:
- 2012
- By:
- Publication type:
- journal article
Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3.
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 59, doi. 10.1186/1750-1172-7-59
- By:
- Publication type:
- Article
Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.
- Published in:
- 2011
- By:
- Publication type:
- journal article
PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Usher syndrome type 1 due to missense mutations on both CDH23 alleles: investigation of mRNA splicing.
- Published in:
- Human Mutation, 2008, v. 29, n. 3, p. 452, doi. 10.1002/humu.9526
- By:
- Publication type:
- Article
Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction.
- Published in:
- Human Mutation, 2007, v. 28, n. 6, p. 571, doi. 10.1002/humu.20478
- By:
- Publication type:
- Article