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1991 1
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17 results

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Page 1
Pathogenesis and Treatment of Usher Syndrome Type IIA.
Zaw K, Carvalho LS, Aung-Htut MT, Fletcher S, Wilton SD, Chen FK, McLenachan S. Zaw K, et al. Asia Pac J Ophthalmol (Phila). 2022 Jul-Aug 01;11(4):369-379. doi: 10.1097/APO.0000000000000546. Epub 2022 Aug 17. Asia Pac J Ophthalmol (Phila). 2022. PMID: 36041150 Free article. Review.
Usher syndrome (USH) is the most common form of deaf-blindness, with an estimated prevalence of 4.4 to 16.6 per 100,000 people worldwide. The most common form of USH is type IIA (USH2A), which is caused by homozygous or compound heterozygous mut
Usher syndrome (USH) is the most common form of deaf-blindness, with an estimated prevalence of 4.4 to 16.6 per
Bardet-Biedl syndrome and Usher syndrome.
Koenig R. Koenig R. Dev Ophthalmol. 2003;37:126-40. doi: 10.1159/000072043. Dev Ophthalmol. 2003. PMID: 12876834 Review.
Bardet-Biedl syndrome (BBS) and Usher syndrome (USH) are the most prevalent syndromic forms of retinitis pigmentosa (RP), together they make up almost a quarter of the patients with RP. ...Each of the three clinical types is genetically heterogeneous: 7 loci …
Bardet-Biedl syndrome (BBS) and Usher syndrome (USH) are the most prevalent syndromic forms of retinitis pigmentosa (RP …
Advances in genetic hearing loss: CIB2 gene.
Jacoszek A, Pollak A, Płoski R, Ołdak M. Jacoszek A, et al. Eur Arch Otorhinolaryngol. 2017 Apr;274(4):1791-1795. doi: 10.1007/s00405-016-4330-9. Epub 2016 Oct 22. Eur Arch Otorhinolaryngol. 2017. PMID: 27771768 Free PMC article. Review.
To date, mutations detected in CIB2 are causative for nonsyndromic hearing loss (DFNB48) or Usher syndrome type 1 J. Patients harboring biallelic CIB2 mutations suffer from bilateral, early onset, moderate to profound HI. ...
To date, mutations detected in CIB2 are causative for nonsyndromic hearing loss (DFNB48) or Usher syndrome type 1 J. Pa …
Molecular genetics of Usher syndrome.
Eudy JD, Sumegi J. Eudy JD, et al. Cell Mol Life Sci. 1999 Oct 15;56(3-4):258-67. doi: 10.1007/s000180050427. Cell Mol Life Sci. 1999. PMID: 11212353 Review.
The Usher syndrome, an autosomal recessive deafness and blindness, is genetically and clinically heterogeneous. In the past 4 years, genes mutated in Usher syndrome type Ib and type IIa have been described. ...
The Usher syndrome, an autosomal recessive deafness and blindness, is genetically and clinically heterogeneous. In the past …
New CRISPR Tools to Correct Pathogenic Mutations in Usher Syndrome.
Major L, McClements ME, MacLaren RE. Major L, et al. Int J Mol Sci. 2022 Oct 1;23(19):11669. doi: 10.3390/ijms231911669. Int J Mol Sci. 2022. PMID: 36232969 Free PMC article. Review.
The USH2A gene at ~15.7 kb for instance is too large for AAV delivery: a safe and effective vehicle capable of transducing photoreceptor cells for gene replacement therapy. Usher Syndrome is a clinically and genetically heterogenous deaf-blindness syndrome wi …
The USH2A gene at ~15.7 kb for instance is too large for AAV delivery: a safe and effective vehicle capable of transducing photoreceptor cel …
Usher protein functions in hair cells and photoreceptors.
Cosgrove D, Zallocchi M. Cosgrove D, et al. Int J Biochem Cell Biol. 2014 Jan;46:80-9. doi: 10.1016/j.biocel.2013.11.001. Epub 2013 Nov 12. Int J Biochem Cell Biol. 2014. PMID: 24239741 Free PMC article. Review.
The 10 different genes associated with the deaf/blind disorder, Usher syndrome, encode a number of structurally and functionally distinct proteins, most expressed as multiple isoforms/protein variants. ...The conundrum is that photoreceptors lack a synonymous mechan …
The 10 different genes associated with the deaf/blind disorder, Usher syndrome, encode a number of structurally and functional …
Mapping and cloning hereditary deafness genes.
Cremers FP, Bitner-Glindzicz M, Pembrey ME, Ropers HH. Cremers FP, et al. Curr Opin Genet Dev. 1995 Jun;5(3):371-5. doi: 10.1016/0959-437x(95)80053-0. Curr Opin Genet Dev. 1995. PMID: 7549433 Free article. Review.
Highlights are the chromosomal localization of at least five genes for autosomal forms of non-syndromic deafness and, more recently, the cloning of an X-linked deafness gene, DFN3, and the Usher syndrome type IB gene. This last gene encodes a myosin-like prot …
Highlights are the chromosomal localization of at least five genes for autosomal forms of non-syndromic deafness and, more recently, the clo …
Hearing impairment and pigmentary disturbance.
Beighton P, Ramesar R, Winship I, Viljoen D, Greenberg J, Young K, Curtis D, Sellars S. Beighton P, et al. Ann N Y Acad Sci. 1991;630:152-66. doi: 10.1111/j.1749-6632.1991.tb19584.x. Ann N Y Acad Sci. 1991. PMID: 1952586 Review.
Some of these disorders are well recognized although uncommon, while others are virtually private syndromes. Practical issues concerning the major conditions of this type are reviewed in this article on a basis of a survey of 4452 profoundly deaf children attending …
Some of these disorders are well recognized although uncommon, while others are virtually private syndromes. Practical issues concern …
[Syndromic hereditary deafness. Usher's syndrome. Oto-neurologic and genetic factors].
Espinós C, Pérez-Garrigues H, Beneyto M, Vilela C, Rodrigo O, Nájera C. Espinós C, et al. An Otorrinolaringol Ibero Am. 1999;26(1):83-95. An Otorrinolaringol Ibero Am. 1999. PMID: 10091368 Review. Spanish.
Usher syndrome (USH) is an autosomal recessive hereditary disorder characterized by congenital bilateral sensorineural hearing loss and progressive loss of vision due to retinitis pigmentosa (RP). The prevalence of Usher syndrome is estimated to be 3-
Usher syndrome (USH) is an autosomal recessive hereditary disorder characterized by congenital bilateral sensorineural hearing
Histopathological and neuroradiological features of Usher syndrome type II.
Ciorba A, Schrott-Fisher A, Berto A, Glueckert R, Janecke A, Martini A. Ciorba A, et al. B-ENT. 2008;4(4):201-6. B-ENT. 2008. PMID: 19227024 Review.
OBJECTIVE: To study the histopathological and neuroradiological features of Usher syndrome (USH), with particular focus on USH type II, an inherited disorder characterized by moderate to severe congenital hearing impairment and retinitis pigmentosa with onset …
OBJECTIVE: To study the histopathological and neuroradiological features of Usher syndrome (USH), with particular focus on USH …
17 results