Works matching Usher syndrome

Results: 770

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

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

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

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

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

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

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

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

Usher syndrome, an unseen/hidden disability: a phenomenological study of adults across the lifespan living in England.

Published in:

Disability & Society, 2022, v. 37, n. 10, p. 1636, doi. 10.1080/09687599.2021.1889981

By:

Evans, Michelle;
Baillie, Lesley

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

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

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

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

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 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

USHER SYNDROME AND ITS GENETIC CHARACTERIZATION.

Published in:

Pakistan Journal of Science, 2022, v. 74, p. 392

By:

Mahmood, R.;
Mahmood, F.;
Faisal, M. N.;
Mahmood, A.;
Muzaffar, H.;
Mahmood, M.;
Abbas, G.;
Mahmood, T.;
Arshad, M

Publication type:

Article

USHER SYNDROME AND ITS GENETIC CHARACTERIZATION.

Published in:

Pakistan Journal of Science, 2022, v. 74, n. 5, p. 392

By:

Mahmood, R.;
Mahmood, F.;
Faisal, M. N.;
Mahmood, A.;
Muzaffar, H.;
Mahmood, M.;
Abbas, G.;
Mahmood, T.;
Arshad, M.

Publication type:

Article

Usher syndrome: increasing awareness in Scotland.

Published in:

Child: Care, Health & Development, 1995, v. 21, n. 2, p. 111, doi. 10.1111/j.1365-2214.1995.tb00413.x

By:

Long, L.

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

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

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

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

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

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

Full-field electroretinography, visual acuity and visual fields in Usher syndrome: a multicentre European study.

Published in:

Documenta Ophthalmologica, 2019, v. 139, n. 2, p. 151, doi. 10.1007/s10633-019-09704-8

By:

Stingl, Katarina;
Kurtenbach, Anne;
Hahn, Gesa;
Kernstock, Christoph;
Hipp, Stephanie;
Zobor, Ditta;
Kohl, Susanne;
Bonnet, Crystel;
Mohand-Saïd, Saddek;
Audo, Isabelle;
Fakin, Ana;
Hawlina, Marko;
Testa, Francesco;
Simonelli, Francesca;
Petit, Christine;
Sahel, Jose-Alain;
Zrenner, Eberhart

Publication type:

Article

Unanticipated prognosis for a patient with type 2 Usher syndrome.

Published in:

Documenta Ophthalmologica, 2019, v. 138, n. 2, p. 161, doi. 10.1007/s10633-019-09677-8

By:

Vezinaw, Chloe M.;
Fishman, Gerald A.;
Chiang, John

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

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

Outcomes of Late Implantation in Usher Syndrome Patients.

Published in:

International Archives of Otorhinolaryngology, 2017, v. 21, n. 2, p. 140, doi. 10.1055/s-0036-1583306

By:

Hoshino, Ana Cristina H.;
Echegoyen, Agustina;
Goffi-Gomez, Maria Valéria Schmidt;
Koji Tsuji, Robinson;
Bento, Ricardo Ferreira

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

Mutation screening of the USH2A gene reveals two novel pathogenic variants in Chinese patients causing simplex usher syndrome 2.

Published in:

2020

By:

He, Chenhao;
Liu, Xinyu;
Zhong, Zilin;
Chen, Jianjun

Publication type:

journal 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

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

فعالية برنامج تدريبي قائم على التواصل المُعزّز والبديل في تحسين بعض المهارات الحياتية اليومية لدى الأطفال الصم المكفوفين ذوي متلازمة أشر.

Published in:

Journal of the Faculty of Education, Beni Suef University, 2025, v. 22, n. 124, Part 1, p. 791

By:

محمود ربيع إسماع;
كاميليا محمد عبد

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

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

The combination of vestibular impairment and congenital sensorineural hearing loss predisposes patients to ocular anomalies, including Usher syndrome.

Published in:

Clinical Genetics, 2017, v. 92, n. 1, p. 26, doi. 10.1111/cge.12895

By:

Kletke, S.;
Batmanabane, V.;
Dai, T.;
Vincent, A.;
Li, S.;
Gordon, K.A.;
Papsin, B.C.;
Cushing, S.L.;
Héon, E.

Publication type:

Article

Clinical and genetic studies in Spanish patients with Usher syndrome type II: description of new mutations and evidence for a lack of genotype–phenotype correlation.

Published in:

Clinical Genetics, 2005, v. 68, n. 3, p. 204, doi. 10.1111/j.1399-0004.2005.00481.x

By:

Bernal, S.;
Medà, C.;
Solans, T.;
Ayuso, C.;
Garcia-Sandoval, B.;
Valverde, D.;
Del Rio, E.;
Baiget, M.

Publication type:

Article

Mutation screening ofUSH3gene (clarin-1) in Spanish patients with Usher syndrome: low prevalence and phenotypic variability.

Published in:

Clinical Genetics, 2004, v. 66, n. 6, p. 525, doi. 10.1111/j.1399-0004.2004.00352.x

By:

Aller, E.;
Jaijo, T.;
Oltra, S.;
Alió, J.;
Galán, F;
Nájera, C.;
Beneyto, M.;
Millán, J. M.

Publication type:

Article

Targeted exome sequencing identified a novel USH2A mutation in a Chinese usher syndrome family: a case report.

Published in:

2020

By:

Xing, Dongjun;
Zhou, Huaiyu;
Yu, Rongguo;
Wang, Linni;
Hu, Liying;
Li, Zhiqing;
Li, Xiaorong

Publication type:

journal article

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

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