Relevant bibliographies by topics / Usher syndrome type 1J

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Academic literature on the topic 'Usher syndrome type 1J'

Author: Grafiati
Published: 11 March 2023
Last updated: 31 July 2025

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Journal articles on the topic "Usher syndrome type 1J"

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Riazuddin, Saima, Inna A. Belyantseva, Arnaud P. J. Giese, et al. "Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48." Nature Genetics 44, no. 11 (2012): 1265–71. http://dx.doi.org/10.1038/ng.2426.

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Jan, A. "Mutations in CIB2 calcium and integrin-binding protein disrupt auditory hair cell calcium homeostasis in Usher syndrome type 1J and non-syndromic deafnessDFNB48." Clinical Genetics 83, no. 4 (2013): 317–18. http://dx.doi.org/10.1111/cge.12100.

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Castiglione, Alessandro, and Claes Möller. "Usher Syndrome." Audiology Research 12, no. 1 (2022): 42–65. http://dx.doi.org/10.3390/audiolres12010005.

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Usher syndrome (USH) is the most common genetic condition responsible for combined loss of hearing and vision. Balance disorders and bilateral vestibular areflexia are also observed in some cases. The syndrome was first described by Albrecht von Graefe in 1858, but later named by Charles Usher, who presented a large number of cases with hearing loss and retinopathy in 1914. USH has been grouped into three main clinical types: 1, 2, and 3, which are caused by mutations in different genes and are further divided into different subtypes. To date, nine causative genes have been identified and conf
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Pennings, Ronald J. E., August F. Deutman, Randall R. Fields, William J. Kimberling, Patrick L. M. Huygen, and W. R. J. Cremers. "Usher Syndrome Type III Can Mimic other Types of Usher Syndrome." Annals of Otology, Rhinology & Laryngology 112, no. 6 (2003): 525–30. http://dx.doi.org/10.1177/000348940311200608.

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Clinical and genetic characteristics are presented of 2 patients from a Dutch Usher syndrome type III family who have a new homozygous USH3 gene mutation: 149–152delCAGG + insTGTCCAAT. One individual (IV: 1) is profoundly hearing impaired and has normal vestibular function and retinitis punctata albescens (RPA). The other individual is also profoundly hearing impaired, but has well-developed speech, vestibular areflexia, and retinitis pigmentosa sine pigmento (RPSP). These findings suggest that Usher syndrome type III can be clinically misdiagnosed as either Usher type I or II; that Usher synd
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Reisser, Christoph F. V., William J. Kimberling, and Christian R. Otterstedde. "Hearing Loss in Usher Syndrome Type II is Nonprogressive." Annals of Otology, Rhinology & Laryngology 111, no. 12 (2002): 1108–11. http://dx.doi.org/10.1177/000348940211101208.

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Usher syndrome is an autosomal recessive disorder characterized by sensorineural hearing loss and progressive visual loss secondary to retinitis pigmentosa. In the literature, a possible progression of the moderate to severe hearing loss in Usher syndrome type II (Usher II) is controversial. We studied the development of the hearing loss of 125 patients with a clinical diagnosis of Usher syndrome type II intraindividually and interindividually by repeatedly performing complete audiological and neuro-otologic examinations. Our data show a very characteristic slope of the hearing curve in all Us
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Sharefah D. A. Al Issa, Dina S Bashammakh, and Nasir AM Al Jurayyan. "Diabetes mellitus type 1(DM-1) in a child with usher syndrome." World Journal of Biology Pharmacy and Health Sciences 16, no. 1 (2023): 229–32. http://dx.doi.org/10.30574/wjbphs.2023.16.1.0377.

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Usher Syndrome is a rare genetic (autosomal recessive) disorder that characterized by partial or total hearing loss caused by defective inner ear and vision loss caused by retinitis pigmentosa which worsens by time. We report on a 9 year-old child who was diagnosed by genetic testing via whole exome sequencing (WES) with Usher Syndrome. At the age of two years and three months, the patient developed type 1 Diabetes Mellitus (DM-1). The aim of this article is to provide a comprehensive review of Usher Syndrome. The postulated association of Usher Syndrome and diabetes mellitus type 1 pathogenes
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Sharefah, D. A. Al Issa, S. Bashammakh Dina, and AM Al Jurayyan Nasir. "Diabetes mellitus type 1(DM-1) in a child with usher syndrome." World Journal of Biology Pharmacy and Health Sciences 16, no. 1 (2023): 229–32. https://doi.org/10.5281/zenodo.10791233.

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Usher Syndrome is a rare genetic (autosomal recessive) disorder that characterized by partial or total hearing loss caused by defective inner ear and vision loss caused by retinitis pigmentosa which worsens by time. We report on a 9 year-old child who was diagnosed by genetic testing via whole exome sequencing (WES) with Usher Syndrome. At the age of two years and three months, the patient developed type 1 Diabetes Mellitus (DM-1). The aim of this article is to provide a comprehensive review of Usher Syndrome. The postulated association of Usher Syndrome and diabetes mellitus type 1 pathogenes
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Keats, Bronya J. B., Alexander A. Todorov, Larry D. Atwood, et al. "Linkage studies of usher syndrome type 1: Exclusion results from the usher syndrome consortium." Genomics 14, no. 3 (1992): 707–14. http://dx.doi.org/10.1016/s0888-7543(05)80172-7.

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Ouyang, Xiao Mei, Denise Yan, Li Lin Du, et al. "Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population." Human Genetics 116, no. 4 (2005): 292–99. http://dx.doi.org/10.1007/s00439-004-1227-2.

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Toms, Maria, Waheeda Pagarkar, and Mariya Moosajee. "Usher syndrome: clinical features, molecular genetics and advancing therapeutics." Therapeutic Advances in Ophthalmology 12 (January 2020): 251584142095219. http://dx.doi.org/10.1177/2515841420952194.

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Usher syndrome has three subtypes, each being clinically and genetically heterogeneous characterised by sensorineural hearing loss and retinitis pigmentosa (RP), with or without vestibular dysfunction. It is the most common cause of deaf–blindness worldwide with a prevalence of between 4 and 17 in 100 000. To date, 10 causative genes have been identified for Usher syndrome, with MYO7A accounting for >50% of type 1 and USH2A contributing to approximately 80% of type 2 Usher syndrome. Variants in these genes can also cause non-syndromic RP and deafness. Genotype–phenotype correlations have be
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Dissertations / Theses on the topic "Usher syndrome type 1J"

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Blaydon, Diana Claire. "Molecular genetics of Usher syndrome type 1C." Thesis, University College London (University of London), 2004. http://discovery.ucl.ac.uk/1446499/.

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Usher syndrome type 1C is an autosomal recessive condition in which profound, congenital sensorineural deafness is found in association with vestibular hypofunction and childhood onset retinitis pigmentosa. The gene responsible for Usher type 1C, USH1C, codes for a PDZ domain-containing protein, harmonin, of unknown function. In addition, the locus for a form of non- syndromic autosomal recessive deafness, DFNB18, overlaps with the USH1C gene. In this thesis the USH1C gene is studied in more detail, both at the molecular level and at the protein level. Two cohorts of patients, individuals diag
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Joensuu, Tarja. "Positional cloning of the usher syndrome type 3 gene (USH3)." Helsinki : University of Helsinki, 2002. http://ethesis.helsinki.fi/julkaisut/laa/kliin/vk/joensuu/.

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Henricson, Cecilia. "Cognitive capacities and composite cognitive skills in individuals with Usher syndrome type 1 and 2." Doctoral thesis, Linköpings universitet, Institutionen för beteendevetenskap och lärande, 2015. http://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-120114.

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The present thesis belongs to the research area disability research and deal with specific aspects of cognition in individuals with Usher syndrome type 1 and 2. The subject has been investigated and is discussed within an interdisciplinary framework, though the theories applied and described are derived from the area of cognitive psychology. Usher syndrome is a rare genetic condition causing a combination of visual and hearing impairment: deafblindness. There is a congenital hearing loss that is profound in type 1 and moderate to severe in type 2. During mid-childhood symptoms of visual impair
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Labbe, Ménélik. "Caractérisation fonctionnelle du complexe de transduction mécano-électrique des cellules ciliées du système auditif." Electronic Thesis or Diss., Paris 6, 2016. http://www.theses.fr/2016PA066543.

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Le syndrome d’Usher (USH) associe une surdité neurosensorielle congénitale et une perte progressive de la vision par rétinite pigmentaire. Pendant ma thèse, l’essentiel de mon travail a porté sur un gène responsable du syndrome d’Usher de type 2, USH2A. Ce gène code pour l’usherine, une protéine associée aux liens fibreux interstéréociliaires situés à la base de la touffe ciliaire des cellules ciliées de la cochlée. Ces liens transitoires disparaissent autour du 9e jour post-natal (P9), chez la souris et le complexe moléculaire associé à ces liens inclut l’usherine, adgrv1 (un récepteur membra
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Labbe, Ménélik. "Caractérisation fonctionnelle du complexe de transduction mécano-électrique des cellules ciliées du système auditif." Thesis, Paris 6, 2016. http://www.theses.fr/2016PA066543/document.

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Le syndrome d’Usher (USH) associe une surdité neurosensorielle congénitale et une perte progressive de la vision par rétinite pigmentaire. Pendant ma thèse, l’essentiel de mon travail a porté sur un gène responsable du syndrome d’Usher de type 2, USH2A. Ce gène code pour l’usherine, une protéine associée aux liens fibreux interstéréociliaires situés à la base de la touffe ciliaire des cellules ciliées de la cochlée. Ces liens transitoires disparaissent autour du 9e jour post-natal (P9), chez la souris et le complexe moléculaire associé à ces liens inclut l’usherine, adgrv1 (un récepteur membra
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Wentling, Maureen. "Characterization of the disease mechanisms underlying clarin-mediated progressive hearing loss." Electronic Thesis or Diss., Sorbonne université, 2023. https://accesdistant.sorbonne-universite.fr/login?url=https://theses-intra.sorbonne-universite.fr/2023SORUS386.pdf.

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Malgré la forte prévalence de la déficience auditive, les mécanismes sous-jacents de la perte auditive progressive restent inconnus. Notre laboratoire a étudié le(s) rôle(s) de la clarine-1, responsable du syndrome d'Usher de type III, qui entraîne une perte auditive progressive, et de la clarine-2, responsable de la surdité non syndromique, dans le système auditif. En raison de la variabilité phénotypique chez les patients atteints du syndrome d'Usher de type III, même parmi les patients présentant les mêmes mutations génétiques, nous avons émis l'hypothèse qu'il pourrait y avoir une redondan
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DELL'AQUILA, FABIO. "GENE THERAPY FOR GYRATE ATROPHY OF CHOROID AND RETINA AND FOR USH1B RETINITIS PIGMENTOSA." Doctoral thesis, Università degli Studi di Milano, 2021. http://hdl.handle.net/2434/884458.

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Inherited Retinal Diseases (IRDs) represent a major cause of blindness worldwide. Adeno-associated viral (AAV) vector-based gene therapies represent the most promising treatments. We aimed to develop gene therapies for gyrate atrophy of the choroid and retina (GA) and Usher syndrome type 1B (USH1B) retinitis pigmentosa. GA is characterized by ornithine aminotransferase [OAT, coding sequence (CDS) ∽1.3 Kb] deficiency. We demonstrated in vitro expression and activity of 3XFlag-tagged human OAT (hOAT-3XFlag). AAV vector carrying the hOAT-3XFlag expression cassette improved the structural retinal
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Giuditta, Dal Cortivo. "Calcium sensor proteins in hearing and sight. Biochemical investigation of diseases-associated variants." Doctoral thesis, 2020. http://hdl.handle.net/11562/1015221.

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Calcium is a cation which plays a pivotal role as second messenger, thus its concentration in cells needs to be finely regulated. Many systems work for that purpose, including Ca2+ sensor proteins, which undergo conformational changes upon Ca2+ coordination via EF-hands. Ca2+ sensors can be ubiquitous or tissue specific. Examples in this sense are represented by Guanylate Cyclase Activating Protein 1 (GCAP1) and Calcium- and Integrin-Binding Protein 2 (CIB2), involved in sight and hearing respectively. Missense point mutations in GCAP1 and CIB2 were found to be associated with genetic diseases
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Lin, Mei-Chu, and 林美珠. "The Genetic Characteristics of an Usher Syndrome Type II Family." Thesis, 2010. http://ndltd.ncl.edu.tw/handle/42575941844580818735.

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碩士<br>國立台北護理學院<br>聽語障礙科學研究所<br>98<br>Usher syndrome type II (USH2), an autosomal recessive disorder, is the most common type of User syndrome and characterized by congenital moderate to severe sensorineural hearing loss and progressive retinitis pigmentosa. Up to date, there are 4 loci associated with USH2. Defects in the USH2A gene have been responsible for most cases of USH2, but the locations and frequency of mutation sites are different between ethnicities. In this report, we screened the entire coding region of USH2A isoform B for a Taiwan family with 2 USH2 patients and 9 relatives by di
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Jorge, André Filipe Santos. "Molecular studies of a novel mutation in MYO7A gene in Usher Syndrome type I." Master's thesis, 2016. http://hdl.handle.net/10316/33413.

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Trabalho de revisão do 6º ano médico com vista à atribuição do grau de mestre (área científica de genética) no âmbito do ciclo de estudos de Mestrado Integrado em Medicina.<br>Introdução: O Síndrome de Usher (USH) é uma doença autossómica recessiva caracterizada por um quadro de défice auditivo neurosensorial e retinite pigmentar, associado ou não a disfunção vestibular. USH é dividido em três tipos, sendo o USH tipo I o mais grave, caraterizado por surdez grave a profunda bilateral congénita, disfunção vestibular e retinite pigmentar diagnosticada durante a infância. Nas famílias com USH tipo
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Books on the topic "Usher syndrome type 1J"

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The madness of Usher's: Coping with vision and hearing loss (Usher syndrome type II). Business of Living Publications, 1991.

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Book chapters on the topic "Usher syndrome type 1J"

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Ayyagari, Radha, Anren Li, Ann Nestorowicz, et al. "Usher Syndrome Type 1C." In Degenerative Retinal Diseases. Springer US, 1997. http://dx.doi.org/10.1007/978-1-4615-5933-7_33.

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Ayyagari, Radha, Richard J. H. Smith, Elizabeth C. Lee, et al. "Heterogeneity of Usher Syndrome Type I." In Retinal Degeneration. Springer US, 1993. http://dx.doi.org/10.1007/978-1-4615-2974-3_12.

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Williams, David S., and Vanda S. Lopes. "Gene Therapy Strategies for Usher Syndrome Type 1B." In Retinal Degenerative Diseases. Springer US, 2011. http://dx.doi.org/10.1007/978-1-4614-0631-0_31.

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Bork, J. M., R. J. Morell, S. Khan, et al. "Clinical Presentation of DFNB12 and Usher Syndrome Type 1D." In Advances in Oto-Rhino-Laryngology. KARGER, 2002. http://dx.doi.org/10.1159/000066829.

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Nagel-Wolfrum, Kerstin, Timor Baasov, and Uwe Wolfrum. "Therapy Strategies for Usher Syndrome Type 1C in the Retina." In Retinal Degenerative Diseases. Springer New York, 2014. http://dx.doi.org/10.1007/978-1-4614-3209-8_93.

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Vermeulen Lianne and van Dijk Jan. "Social-emotional Aspects in a Sample of Young Persons with Usher&rsquo;s Syndrome Type I." In Studies in Health Technology and Informatics. IOS Press, 1994. https://doi.org/10.3233/978-1-60750-855-7-411.

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Usher&amp;rsquo;s Syndrome Type I is characterized by profound congenital deafness in combination with balance problems and symptoms of Retinitis Pigmentosa, which manifest themselves before adolescence. By means of a Q-sort technique we investigated the social-emotional status of 16 young clients with Usher&amp;rsquo;s Syndrome. Norms for prelingually deaf persons for this Q-sort technique, which is called Nijmeegse California Kinder Sorteertechniek are available. This group with Usher&amp;rsquo;s Syndrome seems to have a high degree of ego-resilience and pro-social competence. They show a lo
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Vermeulen Lianne, van Dijk Jan, Hinderink Hans, and van den Broek Paul. "Some Results of Cochlear Implants in 4 Persons with Usher&rsquo;s Syndrome Type I." In Studies in Health Technology and Informatics. IOS Press, 1994. https://doi.org/10.3233/978-1-60750-855-7-419.

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Usher&amp;rsquo;s Syndrome Type I is characterized by profound congenital deafness in combination with balance problems and symptoms of Retinitis Pigmentosa, which manifest themselves before adolescence. Between 1988 and 1991 4 clients with Usher&amp;rsquo;s Syndrome Type I received a cochlear implant. Some quantitative and qualitative data show improvement of communication and mobility in these deafblind clients, as a result of the cochlear implantation.
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Traboulsi, Elias I. "U." In A Compendium of Inherited Disorders and the Eye. Oxford University PressNew York, NY, 2005. http://dx.doi.org/10.1093/oso/9780195170962.003.0019.

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Abstract Hallgren estimated the frequency of Usher syndrome to be 3.0 in 100,000 in Scandinavia. According to Boughman et al., the prevalence in the United States is 4.4 in 100,000. The Usher syndromes constitute 2.5% of families with retinitis pigmentosa, and 24% to 54% of deafblind persons registered at the Helen Keller National Center for Deaf-Blind Youths and Adults have the syndrome. Thirty percent of deaf French Acadians in Louisiana have Usher syndrome, now identified as type 1C. There is genetic heterogeneity for USH1 in France. The gene in the families originating from the Poitou-Char
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