Works matching Usher

Results: 5000

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

A Rare Case of Psychosis in Ushers's Syndrome in Absence of Hallucinations.

Published in:

Selcuk University Medical Journal, 2021, v. 37, n. 3, p. 276, doi. 10.30733/std.2021.01514

By:

Kshamaa, Haradanahalli Giriprakash;
Aswath, Manju;
Pandit, Lakshmi V.

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

Respuesta inmune frente a antígenos de retina en pacientes con retinitis pigmentosa y síndrome de Usher.

Published in:

Universitas Médica, 2009, v. 50, n. 1, p. 20

By:

GÓMEZ, ALBERTO;
ROMERO, MARÍA CONSUELO;
TAMAYO, MARTALUCÍA

Publication type:

Article

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

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

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

The changing face of Usher syndrome: Clinical implications.

Published in:

International Journal of Audiology, 2007, v. 46, n. 2, p. 82, doi. 10.1080/14992020600975279

By:

Cohen, Mazal;
Bitner-Glindzicz, Maria;
Luxon, Linda

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

Serial Audiometry and Speech Recognition Findings in Finnish Usher Syndrome Type III Patients.

Published in:

Audiology & Neurotology, 2005, v. 10, n. 2, p. 79, doi. 10.1159/000083363

By:

Plantinga, R. F.;
Kleemola, L.;
Huygen, P. L. M.;
Joensuu, T.;
Sankila, E.-M.;
Pennings, R. J. E.;
Cremers, C. W. R. J.

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

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

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

Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes.

Published in:

Genes, 2022, v. 13, n. 8, p. 1423, doi. 10.3390/genes13081423

By:

Feenstra, Helena M.;
Al-Khuzaei, Saoud;
Shah, Mital;
Broadgate, Suzanne;
Shanks, Morag;
Kamath, Archith;
Yu, Jing;
Jolly, Jasleen K.;
MacLaren, Robert E.;
Clouston, Penny;
Halford, Stephanie;
Downes, Susan M.

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

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

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

Postural Instability in Subjects With Usher Syndrome.

Published in:

Frontiers in Neurology, 2019, p. 1, doi. 10.3389/fneur.2019.00830

By:

Caldani, Simona;
Bucci, Maria Pia;
Tisné, Maud;
Audo, Isabelle;
Van Den Abbeele, Thierry;
Wiener-Vacher, Sylvette

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

Simultaneous bilateral cochlear implantation in a five-month-old child with Usher syndrome.

Published in:

Journal of Laryngology & Otology, 2015, v. 129, n. 9, p. 919, doi. 10.1017/S0022215115001760

By:

Alsanosi, A A

Publication type:

Article

Prevalence of cystic macular lesions in patients with Usher II syndrome.

Published in:

Eye (0950-222X), 2009, v. 23, n. 5, p. 1206, doi. 10.1038/eye.2008.105

By:

Walia, S.;
Fishman, G. A.;
Hajali, M.

Publication type:

Article

Similarities and Differences in Health, Social Trust, and Financial Situation in People With Usher Syndrome, a Bio-Psychosocial Perspective.

Published in:

Frontiers in Psychology, 2020, v. 11, p. N.PAG, doi. 10.3389/fpsyg.2020.01760

By:

Wahlqvist, Moa;
Möller, Claes;
Möller, Kerstin;
Danermark, Berth

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

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

A Review of Gene, Drug and Cell-Based Therapies for Usher Syndrome.

Published in:

Frontiers in Cellular Neuroscience, 2020, v. 14, p. 1, doi. 10.3389/fncel.2020.00183

By:

French, Lucy S.;
Mellough, Carla B.;
Chen, Fred K.;
Carvalho, Livia S.

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

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

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

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

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

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

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

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

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 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

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

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

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

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

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

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