Works matching Usher syndrome

Results: 787

THE BENEFITS OF EARLY COCHLEAR IMPLANTATION FOR SPEECH DEVELOPMENT IN CHILDREN WITH USHER SYNDROME: LITERATURE REVIEW.

Published in:

Journal of Hearing Science, 2024, v. 14, n. 1, p. 21, doi. 10.17430/jhs/187260

By:

Rusinowska, Barbara

Publication type:

Article

Audiological findings in Usher syndrome types IIa and II (non-IIa).

Published in:

International Journal of Audiology, 2004, v. 43, n. 3, p. 136, doi. 10.1080/14992020400050019

By:

Sadeghi, Mehdi;
Cohn, Edward S.;
Kelly, William J.;
Kimberling, William J.;
Tranebjærg, Lisbeth;
Möller, Claes

Publication type:

Article

Usher syndrome with psychotic symptoms: Two cases in the same family.

Published in:

Psychiatry & Clinical Neurosciences, 2006, v. 60, n. 5, p. 626, doi. 10.1111/j.1440-1819.2006.01568.x

By:

WU, CHEN‐YING;
CHIU, CHIH‐CHIANG

Publication type:

Article

Vestibular phenotype‐genotype correlation in a cohort of 90 patients with Usher syndrome.

Published in:

Clinical Genetics, 2021, v. 99, n. 2, p. 226, doi. 10.1111/cge.13868

By:

Wafa, Talah T.;
Faridi, Rabia;
King, Kelly A.;
Zalewski, Christopher;
Yousaf, Rizwan;
Schultz, Julie M.;
Morell, Robert J.;
Muskett, Julie;
Turriff, Amy;
Tsilou, Ekaterini;
Griffith, Andrew J.;
Friedman, Thomas B.;
Zein, Wadih M.;
Brewer, Carmen C.

Publication type:

Article

A Natural Occurring Mouse Model with <bold>Adgrv1</bold> Mutation of Usher Syndrome 2C and Characterization of its Recombinant Inbred Strains.

Published in:

Cellular Physiology & Biochemistry (Karger AG), 2018, v. 47, n. 5, p. 1883, doi. 10.1159/000491068

By:

Yan, Weiming;
Long, Pan;
Chen, Tao;
Liu, Wei;
Yao, Lu;
Ren, Ze;
Li, Xiangqian;
Wang, Jiancong;
Xue, Junhui;
Tao, Ye;
Zhang, Lei;
Zhang, Zuoming

Publication type:

Article

A Network Analysis Approach to Detect and Differentiate Usher Syndrome Types Using miRNA Expression Profiles: A Pilot Study.

Published in:

BioMedInformatics, 2024, v. 4, n. 4, p. 2271, doi. 10.3390/biomedinformatics4040122

By:

Thelagathoti, Rama Krishna;
Tom, Wesley A.;
Jiang, Chao;
Chandel, Dinesh S.;
Krzyzanowski, Gary;
Olou, Appolinaire;
Fernando, Rohan M.

Publication type:

Article

Usher syndrome: clinical features, molecular genetics and advancing therapeutics.

Published in:

Therapeutic Advances in Ophthalmology, 2020, v. 12, p. 1, doi. 10.1177/2515841420952194

By:

Toms, Maria;
Pagarkar, Waheeda;
Moosajee, Mariya

Publication type:

Article

Usher syndrome: clinical features, molecular genetics and advancing therapeutics.

Published in:

Therapeutic Advances in Ophthalmology, 2020, v. 12, p. 1, doi. 10.1177/2515841420952194

By:

Toms, Maria;
Pagarkar, Waheeda;
Moosajee, Mariya

Publication type:

Article

Current updates on genetic spectrum of usher syndrome.

Published in:

Nucleosides, Nucleotides & Nucleic Acids, 2025, v. 44, n. 5, p. 337, doi. 10.1080/15257770.2024.2344194

By:

Ullah, Farman;
Zeeshan Ali, Muhammad;
Ahmad, Safeer;
Muzammal, Muhammad;
Khan, Saadullah;
Khan, Jabbar;
Ahmad Khan, Muzammil

Publication type:

Article

Comparison of Topical Dorzolamide and Ketorolac Treatment for Cystoid Macular Edema in Retinitis Pigmentosa and Usher's Syndrome.

Published in:

Ophthalmologica, 2015, v. 233, n. 1, p. 43, doi. 10.1159/000368052

By:

Lemos Reis, Ricardo Filipe;
Moreira-Gonçalves, Nuno;
Estrela Silva, Sérgio E.;
Brandão, Elisete M.;
Falcão-Reis, Fernando M.

Publication type:

Article

Targeted Next-Generation Sequencing Identified Novel Compound Heterozygous Variants in the CDH23 Gene Causing Usher Syndrome Type ID in a Chinese Patient.

Published in:

Frontiers in Genetics, 2020, v. 11, p. 1, doi. 10.3389/fgene.2020.00422

By:

Zhang, Lianmei;
Cheng, Jingliang;
Zhou, Qi;
Khan, Md. Asaduzzaman;
Fu, Jiewen;
Duan, Chengxia;
Sun, Suan;
Lv, Hongbin;
Fu, Junjiang

Publication type:

Article

Screening of the USH1G Gene among Spanish Patients with Usher Syndrome. Lack of Mutations and Evidence of a Minor Role in the Pathogenesis of the Syndrome.

Published in:

Ophthalmic Genetics, 2007, v. 28, n. 3, p. 151, doi. 10.1080/13816810701537374

By:

Aller, Elena;
Jaijo, Teresa;
Beneyto, Magdalena;
Nájera, Carmen;
Morera, Constantino;
Pérez-Garrigues, Herminio;
Ayuso, Carmen;
Millán, Jose

Publication type:

Article

Novel Mutations in MYO7A and USH2A in Usher Syndrome.

Published in:

Ophthalmic Genetics, 2005, v. 26, n. 1, p. 25, doi. 10.1080/13816810590918118

By:

Maubaret, Cécilia;
Griffoin, Jean-Michel;
Arnaud, Bernard;
Hamel, Christian P.

Publication type:

Article

Management of Full-Thickness Macular Hole in A Genetically Confirmed Case with Usher Syndrome.

Published in:

Ophthalmology & Therapy, 2020, v. 9, n. 3, p. 677, doi. 10.1007/s40123-020-00276-4

By:

Panagiotou, Evangelia S.;
Papathomas, Thomas;
Nikopoulos, Konstantinos;
Koukoula, Stavrenia;
Quinodoz, Mathieu;
Rehman, Atta Ur;
Giannopoulos, Theodoros;
Rivolta, Carlo;
Konstas, Anastasios G.

Publication type:

Article

Living with Usher Syndrome: Patient and Physician Perspectives.

Published in:

Ophthalmology & Therapy, 2020, v. 9, n. 3, p. 1, doi. 10.1007/s40123-020-00258-6

By:

Lønborg-Møller, Helene;
Subhi, Yousif;
Kessel, Line

Publication type:

Article

Diagnosis and treatment of a severe psychotic illness in a man with dual severe sensory impairments caused by the presence of Usher syndrome.

Published in:

Journal of Intellectual Disability Research, 1999, v. 43, n. 5, p. 428, doi. 10.1046/j.1365-2788.1999.043005428.x

By:

Hess-Röver, J.;
Crichton, J.;
Byrne, K.;
Holland, A. J.

Publication type:

Article

Psychosocial determinants associated with quality of life in people with usher syndrome. A scoping review.

Published in:

Disability & Rehabilitation, 2020, v. 42, n. 19, p. 2809, doi. 10.1080/09638288.2019.1571637

By:

Arcous, Marine;
Putois, Olivier;
Dalle-Nazébi, Sophie;
Kerbourch, Sylvain;
Cariou, Anaelle;
Ben Aissa, Ines;
Marlin, Sandrine;
Potier, Rémy

Publication type:

Article

Next-generation sequencing reveals three novel variants in Polish patients with Usher syndrome.

Published in:

Acta Ophthalmologica Polonica / Klinika Oczna, 2018, v. 120, n. 4, p. 189, doi. 10.5114/ko.2018.82893

By:

Wawrocka, Anna;
Walczak-Sztulpa, Joanna;
Skorczyk-Werner, Anna;
Kuszel, Łukasz;
Socha, Magdalena;
Jamsheer, Aleksander;
Krawczynski, Maciej R.

Publication type:

Article

Mania Associated with Usher Syndrome Type II.

Published in:

Turk Psikiyatri Dergisi, 2012, v. 23, n. 3, p. 219

By:

PRAHARAJ, Samir Kumar;
ACHARYA, Mahima;
SARVANAN, Arul;
KONGASSERI, Sreejayan;
BEHERE, Rishikesh V.;
SHARMA, P. S. V. N.

Publication type:

Article

Type 2 Usher Syndrome – A Cause for Sensorineural Hearing Loss.

Published in:

Indian Journal of Otolaryngology & Head & Neck Surgery, 2024, v. 76, n. 6, p. 5228, doi. 10.1007/s12070-024-04953-9

By:

Kumar, B.L.Yatish;
Reddy, Manjoo S.;
Simha, N.Vijayendra;
Avinash, K.

Publication type:

Article

Hearing Loss with Vision Impairment: Usher Syndrome. A Case of the East Democratic Republic of Congo.

Published in:

Indian Journal of Otolaryngology & Head & Neck Surgery, 2023, v. 75, n. 4, p. 4093, doi. 10.1007/s12070-023-03970-4

By:

Edouard, Amani Mudekereza;
Gloria, Nshokano Simba;
Sobhi, Ahmed youssef;
Christian, Amani Muzindusi;
Fidele, Kabego Kulimushi;
Fabrice, Murhula Mulumeoderhwa;
Christian, Balaluka Mulinganya;
Deogratias, Ngoma Basedeke;
Patrick, Balungwe Birindwa

Publication type:

Article

Cochlear Implantation in Children with Usher's Syndrome: A South Asian Experience.

Published in:

Indian Journal of Otolaryngology & Head & Neck Surgery, 2020, v. 72, n. 1, p. 140, doi. 10.1007/s12070-019-01759-y

By:

Nair, Geetha;
Dham, Ruchima;
Sekhar, Arpana;
Kumar, Raghunandhan Sampath;
Kameswaran, Mohan

Publication type:

Article

Usher syndrome associated with Fuchs’ heterochromic uveitis.

Published in:

Graefe's Archive of Clinical & Experimental Ophthalmology, 2010, v. 248, n. 10, p. 1481, doi. 10.1007/s00417-010-1429-3

By:

Lichtinger, Alejandro;
Chowers, Itay;
Amer, Radgonde

Publication type:

Article

Outcomes of cochlear implantation in Usher syndrome: a systematic review.

Published in:

European Archives of Oto-Rhino-Laryngology, 2024, v. 281, n. 3, p. 1115, doi. 10.1007/s00405-023-08304-2

By:

Cornwall, Hannah Louisa;
Lam, Chon Meng;
Chaudhry, Daoud;
Muzaffar, Jameel;
Monksfield, Peter;
Bance, Manohar L.

Publication type:

Article

Genetic Screening of the Usher Syndrome in Cuba.

Published in:

Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00501

By:

Santana, Elayne E.;
Fuster-García, Carla;
Aller, Elena;
Jaijo, Teresa;
García-Bohórquez, Belén;
García-García, Gema;
Millán, José M.;
Lantigua, Araceli

Publication type:

Article

Treatment of enamel hypoplasia in a patient with Usher syndrome.

Published in:

2011

By:

de la Peña, Victor Alonso;
Valea, Martín Caserío

Publication type:

Case Study

Usher Syndrome: New Insights into Classification, Genotype–Phenotype Correlation, and Management.

Published in:

Genes, 2025, v. 16, n. 3, p. 332, doi. 10.3390/genes16030332

By:

D'Esposito, Fabiana;
Gagliano, Giuseppe;
Gagliano, Caterina;
Maniaci, Antonino;
Avitabile, Alessandro;
Giglio, Rosa;
Reibaldi, Michele;
Cordeiro, Maria Francesca;
Zeppieri, Marco

Publication type:

Article

Aberrant Splicing Events Associated to CDH23 Noncanonical Splice Site Mutations in a Proband with Atypical Usher Syndrome 1.

Published in:

Genes, 2019, v. 10, n. 10, p. 732, doi. 10.3390/genes10100732

By:

Valero, Rebeca;
de Castro-Miró, Marta;
Jiménez-Ochoa, Sofía;
Rodríguez-Ezcurra, Juan José;
Marfany, Gemma;
Gonzàlez-Duarte, Roser

Publication type:

Article

Empowering People Experiencing Usher Syndrome as Participants in Research.

Published in:

British Journal of Social Work, 2017, v. 47, n. 8, p. 2328, doi. 10.1093/bjsw/bcw147

By:

Evans, Michelle

Publication type:

Article

Case report: novel PCDH15 variant causes usher syndrome type 1F with congenital hearing loss and syndromic retinitis pigmentosa.

Published in:

2022

By:

Chen, Nelson;
Lee, Hane;
Kim, Angela H.;
Liu, Pei-Kang;
Kang, Eugene Yu-Chuan;
Tseng, Yun-Ju;
Seo, Go Hun;
Khang, Rin;
Liu, Laura;
Chen, Kuan-Jen;
Wu, We-Chi;
Hsiao, Meng-Chang;
Wang, Nan-Kai

Publication type:

journal article

A novel homozygous variant of <italic>GPR98</italic> causes usher syndrome type IIC in a consanguineous Chinese family by next generation sequencing.

Published in:

BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0602-0

By:

Wei, Chunli;
Yang, Lisha;
Cheng, Jingliang;
Imani, Saber;
Fu, Shangyi;
Lv, Hongbin;
Li, Yumei;
Chen, Rui;
Leung, Elaine Lai-Han;
Fu, Junjiang

Publication type:

Article

A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome.

Published in:

Journal of Molecular Medicine, 2005, v. 83, n. 12, p. 1025, doi. 10.1007/s00109-005-0719-4

By:

Kalay, E.;
de Brouwer, A. P. M.;
Caylan, R.;
Nabuurs, S. B.;
Wollnik, B.;
Karaguzel, A.;
Heister, J. G. A. M.;
Erdol, H.;
Cremers, F. P. M.;
Cremers, C. W. R. J.;
Brunner, H. G.;
Kremer, H.

Publication type:

Article

A Hybrid Sequential Feature Selection Approach for Identifying New Potential mRNA Biomarkers for Usher Syndrome Using Machine Learning.

Published in:

Biomolecules (2218-273X), 2025, v. 15, n. 7, p. 963, doi. 10.3390/biom15070963

By:

Thelagathoti, Rama Krishna;
Tom, Wesley A.;
Chandel, Dinesh S.;
Jiang, Chao;
Krzyzanowski, Gary;
Olou, Appolinaire;
Fernando, M. Rohan

Publication type:

Article

Frecuencia de mutaciones en el gen de la usherina (USH2A) en 26 individuos colombianos con síndrome de Usher, tipo II.

Published in:

Biomédica: Revista del Instituto Nacional de Salud, 2011, v. 31, n. 1, p. 82, doi. 10.7705/biomedica.v31i1.338

By:

López, Greizy;
Gelvez, Nancy Yaneth;
Tamayo, Martalucía

Publication type:

Article

Genotype Characterization and MiRNA Expression Profiling in Usher Syndrome Cell Lines.

Published in:

International Journal of Molecular Sciences, 2024, v. 25, n. 18, p. 9993, doi. 10.3390/ijms25189993

By:

Tom, Wesley A.;
Chandel, Dinesh S.;
Jiang, Chao;
Krzyzanowski, Gary;
Fernando, Nirmalee;
Olou, Appolinaire;
Fernando, M. Rohan

Publication type:

Article

A Review of CRISPR Tools for Treating Usher Syndrome: Applicability, Safety, Efficiency, and In Vivo Delivery.

Published in:

International Journal of Molecular Sciences, 2023, v. 24, n. 8, p. 7603, doi. 10.3390/ijms24087603

By:

Major, Lauren;
McClements, Michelle E.;
MacLaren, Robert E.

Publication type:

Article

New CRISPR Tools to Correct Pathogenic Mutations in Usher Syndrome.

Published in:

2022

By:

Major, Lauren;
McClements, Michelle E.;
MacLaren, Robert E.

Publication type:

Literature Review

Novel Usher syndrome pathogenic variants identified in cases with hearing and vision loss.

Published in:

BMC Medical Genetics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12881-019-0777-z

By:

Pater, Justin A.;
Green, Jane;
O'Rielly, Darren D.;
Griffin, Anne;
Squires, Jessica;
Burt, Taylor;
Fernandez, Sara;
Fernandez, Bridget;
Houston, Jim;
Zhou, Jiayi;
Roslin, Nicole M.;
Young, Terry-Lynn

Publication type:

Article

Correlation between Genotype and Phenotype in 69 Chinese Patients with USH2A Mutations: A comparative study of the patients with Usher Syndrome and Nonsyndromic Retinitis Pigmentosa.

Published in:

Acta Ophthalmologica (1755375X), 2021, v. 99, n. 4, p. e447, doi. 10.1111/aos.14626

By:

Meng, Xiang;
Liu, XiaoZhen;
Li, YingYing;
Guo, Tong;
Yang, Liping

Publication type:

Article

The lived experiences of work and health of people living with deaf-blindness due to Usher syndrome type 2.

Published in:

International Journal of Qualitative Studies on Health & Well-Being, 2020, v. 15, n. 1, p. 1, doi. 10.1080/17482631.2020.1846671

By:

Ehn, Mattias;
Wahlqvist, Moa;
Möller, Claes;
Anderzén-Carlsson, Agneta

Publication type:

Article

Life strategies of people with deafblindness due to Usher syndrome type 2a - a qualitative study.

Published in:

International Journal of Qualitative Studies on Health & Well-Being, 2019, v. 14, n. 1, p. 1, doi. 10.1080/17482631.2019.1656790

By:

Ehn, Mattias;
Anderzén-Carlsson, Agneta;
Möller, Claes;
Wahlqvist, Moa

Publication type:

Article

Genetic Testing Leading to Early Identification of Childhood Ocular Manifestations of Usher Syndrome.

Published in:

Laryngoscope, 2021, v. 131, n. 6, p. E2053, doi. 10.1002/lary.29193

By:

Brodie, Kara D.;
Moore, Anthony T.;
Slavotinek, Anne M.;
Meyer, Anna K.;
Nadaraja, Garani S.;
Conrad, David E.;
Weinstein, Jacqueline E.;
Chan, Dylan K.

Publication type:

Article

Chronic Psychosis in a Patient with Usher Syndrome.

Published in:

Annals of Indian Psychiatry, 2025, v. 9, n. 1, p. 91, doi. 10.4103/aip.aip_36_24

By:

Bhat, Abhay Keshava;
Meshram, Sheetal Reshram;
Umate, Maithili S.;
Jain, Prakhar D.

Publication type:

Article

Overcoming barriers to the involvement of deafblind people in conversations about research: recommendations from individuals with Usher syndrome.

Published in:

Research Involvement & Engagement, 2018, v. 4, n. 1, p. N.PAG, doi. 10.1186/s40900-018-0124-0

By:

Skilton, Andrew;
Boswell, Emma;
Prince, Kevin;
Francome-Wood, Priya;
Moosajee, Mariya

Publication type:

Article

Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 5, p. 531, doi. 10.1002/mgg3.312

By:

Neuhaus, Christine;
Eisenberger, Tobias;
Decker, Christian;
Nagl, Sandra;
Blank, Cornelia;
Pfister, Markus;
Kennerknecht, Ingo;
Müller ‐ Hofstede, Cornelie;
Charbel Issa, Peter;
Heller, Raoul;
Beck, Bodo;
Rüther, Klaus;
Mitter, Diana;
Rohrschneider, Klaus;
Steinhauer, Ute;
Korbmacher, Heike M.;
Huhle, Dagmar;
Elsayed, Solaf M.;
Taha, Hesham M.;
Baig, Shahid M.

Publication type:

Article

Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2014, v. 2, n. 5, p. 393, doi. 10.1002/mgg3.92

By:

Krawitz, Peter M.;
Schiska, Daniela;
Krüger, Ulrike;
Appelt, Sandra;
Heinrich, Verena;
Parkhomchuk, Dmitri;
Timmermann, Bernd;
Millan, Jose M.;
Robinson, Peter N.;
Mundlos, Stefan;
Hecht, Jochen;
Gross, Manfred

Publication type:

Article

A rare transcript homozygous variants in CLRN1(USH3A) causes Usher syndrome type 3 in a Chinese family.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03348-x

By:

Wang, Suyang;
Xu, Chen Yang;
Zhu, Yiming;
Ding, Wenjuan;
Hu, Jieyu;
Xu, Baicheng;
Guo, Yufen;
Liu, Xiaowen

Publication type:

Article

Novel biallelic USH2A variants in a patient with usher syndrome type IIA- a case report.

Published in:

BMC Ophthalmology, 2022, v. 22, n. 1, p. 1, doi. 10.1186/s12886-022-02353-7

By:

Young, Su Ling;
Stanton, Chloe M.;
Livesey, Benjamin J.;
Marsh, Joseph A.;
Cackett, Peter D.

Publication type:

Article

A novel homozygous missense variant identified in the myosin VIIA motor domain of a Moroccan patient with usher syndrome.

Published in:

Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-09603-5

By:

Ouarhache, Maryem;
Kettani, Oussama;
Fizazi, Khawla El;
Bouguenouch, Laila;
Ouldim, Karim

Publication type:

Article

Dark-adapted threshold and electroretinogram for diagnosis of Usher syndrome.

Published in:

Documenta Ophthalmologica, 2021, v. 143, n. 1, p. 39, doi. 10.1007/s10633-021-09818-y

By:

Ambrosio, Lucia;
Hansen, Ronald M.;
Moskowitz, Anne;
Oza, Andrea;
Barrett, Devon;
Manganella, Juliana;
Medina, Genevieve;
Kawai, Kosuke;
Fulton, Anne B.;
Kenna, Margaret

Publication type:

Article