|1.||Deafness (Deaf Mutism)
|2.||Retinitis Pigmentosa (Pigmentary Retinopathy)
|4.||Blindness (Hysterical Blindness)
|5.||Usher Syndromes (Usher Syndrome)
|1.||Kimberling, William J: 11 articles (12/2013 - 08/2002)|
|2.||Petit, Christine: 9 articles (03/2014 - 03/2003)|
|3.||Wolfrum, Uwe: 8 articles (09/2014 - 02/2005)|
|4.||El-Amraoui, Aziz: 7 articles (03/2014 - 03/2003)|
|5.||Cosgrove, Dominic: 7 articles (01/2014 - 01/2004)|
|6.||Williams, David S: 7 articles (11/2011 - 01/2003)|
|7.||Weil, Dominique: 5 articles (10/2012 - 03/2003)|
|8.||Kremer, Hannie: 5 articles (10/2011 - 04/2004)|
|9.||Aller, Elena: 5 articles (03/2010 - 07/2002)|
|10.||Cremers, Cor W R J: 5 articles (02/2007 - 06/2003)|
|1.||Proteins (Proteins, Gene)IBA
12/26/2014 - "Whirlin and PDZ domain-containing 7 (PDZD7) proteins are both required to form the quaternary protein complex associated with Usher syndrome type 2."
01/01/2014 - "Recent evidence linking photoreceptor cell dysfunction in the shaker 1 mouse model for Usher syndrome to light-induced protein translocation defects, combined with localization of an Usher protein interactome at the periciliary region of the photoreceptors suggests Usher proteins might regulate protein trafficking between the inner and outer segments of photoreceptors. "
02/01/2012 - "Structures of usher syndrome 1 proteins and their complexes."
06/01/2010 - "Here, we have determined that mutations in PDZ domain-containing 7 (PDZD7), which encodes a homolog of proteins mutated in Usher syndrome subtype 1C (USH1C) and USH2D, contribute to Usher syndrome. "
03/02/2010 - "The hereditary hearing-vision loss disease, Usher syndrome I (USH1), is caused by defects in several proteins that can interact with each other in vitro. "
|2.||dorzolamide (Trusopt)FDA LinkGeneric
09/01/2010 - "To determine the efficacy of sustained topical therapy with dorzolamide hydrochloride, 2%, on visual acuity and cystic macular lesions in patients with retinitis pigmentosa and Usher syndrome. "
09/01/2010 - "Efficacy of sustained topical dorzolamide therapy for cystic macular lesions in patients with retinitis pigmentosa and usher syndrome."
09/01/2010 - "In a retrospective case series at a university hospital, 64 eyes of 32 patients with retinitis pigmentosa or Usher syndrome receiving treatment with the topical dorzolamide formulation for 6 to 58 months were enrolled. "
09/01/2010 - "Patients with either retinitis pigmentosa or Usher syndrome who received treatment of cystoid macular edema with topical dorzolamide followed by an optical coherence tomography-guided strategy showed a decrease in central foveal zone thickness in most cases. "
06/01/1998 - "In the current study, 12 Spanish families affected by type-I Usher syndrome, that was previously linked to chromosome 11q, were screened for the presence of mutations in the N-terminal coding portion of the motor domain of the myosin VIIA gene by single-strand conformation polymorphism analysis of the first 14 exons. "
08/01/2011 - "Mutations in the myosin VIIa gene (MYO7A) cause a common and severe subtype of Usher syndrome (USH1B). "
01/01/2010 - "Some had already been screened for mutations in the other known USH1 genes (myosin VIIA [MYO7A], cadherin-related 23 [CDH23], protocadherin-related 15 [PCDH15], and Usher syndrome 1G [USH1G]), but no mutation was found. "
09/09/2008 - "Impacts of Usher syndrome type IB mutations on human myosin VIIa motor function."
02/01/2005 - "Defects in myosin VIIa, harmonin (a PDZ domain protein), cadherin 23, protocadherin 15 and sans (a putative scaffolding protein), underlie five forms of Usher syndrome type I (USH1). "
|4.||DNA (Deoxyribonucleic Acid)IBA
08/01/2015 - "To investigate the disease-causing mutation in a Chinese family affected with Usher syndrome type II. All of the 11 members from the family underwent comprehensive ophthalmologic examination and hearing test, and their genomic DNA were isolated from venous leukocytes. "
06/01/2015 - "To identify potential mutations in a Chinese family with Usher syndrome type II. Genomic DNA was obtained from two affected and four unaffected members of the family and subjected to amplification of the entire coding sequence and splicing sites of USH2A gene. "
06/01/2015 - "DNA from a 12-year-old male diagnosed with Usher syndrome was analyzed by WES. "
12/01/2013 - "DNA samples from patients with Usher syndrome type II were analysed. "
08/01/2010 - "The results demonstrate that DNA testing for Usher syndrome is feasible and may be a useful addition to newborn hearing screening programs."
|5.||type 1 Usher syndromeIBA
11/01/1992 - "Linkage studies of Usher syndrome type 1: exclusion results from the Usher syndrome consortium."
04/01/2011 - "Whirlin is the causative gene for Usher syndrome type IID (USH2D), a condition manifested as both retinitis pigmentosa and congenital deafness. "
03/01/2005 - "We performed SSCP screening of MYO7A in 12 unrelated patients suffering from Usher syndrome type 1 (USH1) and USH2A in 28 unrelated patients affected by Usher syndrome type 2 (USH2). "
04/01/2003 - "This indicates that mutations in the USH1C gene make a greater contribution to Usher syndrome type 1 than originally thought, which has implications for the genetic testing of families with Usher syndrome in the UK. "
06/01/2002 - "The database of the University of Heidelberg contains 247 Usher syndrome patients, 63 with Usher syndrome type 1 (USH1) and 184 with Usher syndrome type 2 (USH2). "
|6.||Vitamin D-Binding ProteinIBA
01/01/1989 - "Conventional protein markers previously tested in a Louisiana Acadian kindred suggested tentative linkage to vitamin D-binding protein on chromosome 4. DNA linkage studies do not confirm this linkage relationship and exclude much of chromosome 4 as the site of the Usher syndrome gene in these families."
|7.||cytotropic heterogeneous molecular lipid (CHML)IBA
01/15/1994 - "The human choroideremia-like (CHML) gene and a locus for Usher syndrome type 2 (USH2) were recently mapped to the 1q31-qter region employing physical mapping and genetic linkage studies, respectively. "
01/15/1994 - "Mapping of the choroideremia-like (CHML) gene at 1q42-qter and mutation analysis in patients with Usher syndrome type II."
03/01/2014 - "The retinal phenotype of Usher syndrome: pathophysiological insights from animal models."
01/01/2014 - "Usher syndrome protein network functions in the retina and their relation to other retinal ciliopathies."
01/01/2014 - "Furthermore, these results indicate that both Usher syndrome mouse models possess a light-induced retinal phenotype and may share a closely related pathobiological mechanism. "
01/01/2012 - "To characterize the expression pattern of cadherin 23 (cdh23) in the zebrafish visual system, and to determine whether zebrafish cdh23 mutants have retinal defects similar to those present in the human disease Usher syndrome 1D. "
11/01/2011 - "Histological analyses reveal specific defects in sensory cell structure that are consistent with these behavioral phenotypes and could implicate Müller glia in the retinal pathology of Usher syndrome. "
12/01/2013 - "Here, we review the MYO5B gene and all currently known MYO5B mutations and for the first time methodologically categorize these with regard to functional protein domains and recurrence in MYO7A associated with Usher syndrome and other myosins. "
01/01/2011 - "To determine the disease course in Usher syndrome type IB (USH1B) caused by myosin 7A (MYO7A) gene mutations. "
04/01/2014 - "Usher syndrome 1B (USH1B) is a severe, autosomal recessive, deaf-blind disorder caused by mutations in myosin 7A (MYO7A). "
11/18/1997 - "R238C or R238H mutations, which mimic the Usher syndrome mutations, generated myosins with similar functional defects to those of the R238A mutation. "
01/01/1997 - "The gene that is defective in Usher syndrome 1B (USH1B) encodes for an unconventional myosin, myosin VIIa. "
|10.||Nonsense Codon (Nonsense Mutation)IBA
01/01/2012 - "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."
09/01/2014 - "Moreover, recent data demonstrated sustained read-through efficacies of nonsense mutations causing retinal degeneration, as manifested in the human Usher syndrome. "
11/01/2011 - "Here we characterize two zebrafish models for a severe form of Usher syndrome, Usher syndrome type 1C (USH1C): one model is a mutant with a newly identified ush1c nonsense mutation, and the other is a morpholino knockdown of ush1c. "
05/14/2009 - "We describe here the first systematic development of the novel aminoglycoside 2 (NB54) exhibiting superior in vitro readthrough efficiency to that of gentamicin in seven different DNA fragments derived from mutant genes carrying nonsense mutations representing the genetic diseases Usher syndrome, cystic fibrosis, Duchenne muscular dystrophy, and Hurler syndrome. "
05/01/2011 - "We investigated the therapeutic potential of the premature termination codon (PTC) readthrough-inducing drug PTC124 in treating the retinal phenotype of Usher syndrome, caused by a nonsense mutation in the USH1C gene. "
09/01/2015 - "To report a rare case of simultaneous bilateral cochlear implantation in a five-month-old child with Usher syndrome. "
09/01/2015 - "Simultaneous bilateral cochlear implantation in a five-month-old child with Usher syndrome."
01/01/2012 - "Speech recognition and communication outcomes with cochlear implantation in Usher syndrome type 3."
05/01/2006 - "Quality of life and cochlear implantation in Usher syndrome type I."
05/01/2006 - "Audiologic performance and benefit of cochlear implantation in Usher syndrome type I."
|2.||Cochlear Implants (Cochlear Implant)
04/01/2013 - "To evaluate the characteristics and outcomes of pediatric cochlear implant recipients diagnosed with Usher syndrome (US). "
04/01/2013 - "Usher syndrome: characteristics and outcomes of pediatric cochlear implant recipients."
07/01/2008 - ""Minimized rotational vestibular testing" as a screening procedure detecting vestibular areflexy in deaf children: screening cochlear implant candidates for Usher syndrome type I."
06/01/2008 - "To analyze the occurrence of the Usher type 1 (USH1) gene mutations in cochlear implant recipients with deaf-blind Usher syndrome, and to assess the potential effect of these genes and other factors on the therapeutic outcome. "
01/01/2007 - "Enamel defects and ectopic eruption in a child with Usher syndrome and a cochlear implant."
01/01/2009 - "The role of visual feedback during the production of American Sign Language was investigated by comparing the size of signing space during conversations and narrative monologues for normally sighted signers, signers with tunnel vision due to Usher syndrome, and functionally blind signers. "
|4.||Hearing Aids (Hearing Aid)
02/01/2006 - "Electrophysiologic testing to help identification of Usher syndrome may also be required, and finally g) serial hearing assessments of children with dual sensory deficits are needed to monitor hearing thresholds, to optimise hearing aid use and to ensure timely referral for cochlear implantation for those who need it."