Works matching Usher syndrome

Results: 721

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

Mariage consanguin et morbi-mortalité, courte revue de la littérature à partir d'une association exceptionnelle: syndrome de Usher et Neurofibromatose de Von Recklinghausen.

Published in:

2016

By:

Atipo-Tsiba, Pépin-Williams

Publication type:

Case Study

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

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

A New Clinical Classification for Usher's Syndrome Based on a New Subtype of Usher's Syndrome Type I.

Published in:

Laryngoscope, 2001, v. 111, n. 1, p. 84, doi. 10.1097/00005537-200101000-00014

By:

Otterstedde, Christian R.;
Spandau, Ulrich;
Blankenagel, Anita;
Kimberling, William J.;
Reisser, Christoph

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

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 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 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: Case Reports of Two Siblings.

Published in:

2015

By:

Prasad Sah, Raman;
Gautam, Pragati;
Baba Shrestha, Jyoti;
Raj Joshi, Mahesh

Publication type:

Case Study

Usher syndrome in a patient with Ellis–van Creveld syndrome.

Published in:

European Journal of Ophthalmology, 2020, v. 30, n. 2, p. NP38, doi. 10.1177/1120672119841778

By:

Romano, Francesco;
Albertini, Giorgia Carlotta;
Arrigo, Alessandro;
Leone, Pier Pasquale;
Bandello, Francesco;
Battaglia Parodi, Maurizio

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

Senear–Usher Syndrome or Coexistence of SLE with Pemphigus Vulgaris—A Case Report with Literature Review.

Published in:

Journal of Clinical Medicine, 2025, v. 14, n. 2, p. 409, doi. 10.3390/jcm14020409

By:

Kutwin, Magdalena;
Kądziela, Marcelina;
Stein, Tomasz;
Kraska-Gacka, Marzena;
Woźniacka, Anna;
Żebrowska, Agnieszka

Publication type:

Article

A 4.6 Mb Inversion Leading to PCDH15 - LINC00844 and BICC1 - PCDH15 Fusion Transcripts as a New Pathogenic Mechanism Implicated in Usher Syndrome Type 1.

Published in:

Frontiers in Genetics, 2020, v. 11, p. 1, doi. 10.3389/fgene.2020.00623

By:

Vaché, Christel;
Puechberty, Jacques;
Faugère, Valérie;
Darmaisin, Floriane;
Liquori, Alessandro;
Baux, David;
Blanchet, Catherine;
Garcia-Garcia, Gema;
Meunier, Isabelle;
Pellestor, Franck;
Koenig, Michel;
Roux, Anne-Françoise

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

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

Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 5, p. 554, doi. 10.1038/ejhg.2008.231

By:

Doucette, Lance;
Merner, Nancy D.;
Cooke, Sandra;
Ives, Elizabeth;
Galutira, Dante;
Walsh, Vanessa;
Walsh, Tom;
MacLaren, Linda;
Cater, Tracey;
Fernandez, Bridget;
Green, Jane S.;
Wilcox, Edward R.;
Shotland, Larry;
Li, X. C.;
Lee, Ming;
King, Mary-Claire;
Young, Terry-Lynn

Publication type:

Article

Síndrome de Senear-Usher (pénfigo seborreico): un caso excepcional.

Published in:

Revista Alergia de Mexico, 2023, v. 70, n. 2, p. 102, doi. 10.29262/ram.v70i2.1223

By:

Galán-Lozano, Juan David;
Velasco-Castro, Julio César;
García-Agudelo, Lorena;
Vargas-Rodríguez, Ledmar Jovanny

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

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

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

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

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

Lentiviral gene replacement therapy of retinas in a mouse model for Usher syndrome type 1B.

Published in:

Gene Therapy, 2007, v. 14, n. 7, p. 584, doi. 10.1038/sj.gt.3302897

By:

Hashimoto, T.;
Gibbs, D.;
Lillo, C.;
Azarian, S. M.;
Legacki, E.;
Zhang, X.-M.;
Yang, X.-J.;
Williams, D. S.

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

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 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

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

Postural Control in Blinds and in Usher's Syndrome.

Published in:

Acta Oto-Laryngologica, 1991, v. 111, n. S481, p. 603, doi. 10.3109/00016489109131482

By:

Pyykk, Ilmari;
Vesikivi, Maarit;
Ishizaki, Hisayoshi;
Magnusson, Måns;
Juhola, Martti

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

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

Exploring the support needs of Australian parents of young children with Usher syndrome: a qualitative thematic analysis.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03125-w

By:

Johansen, L.;
O'Hare, F.;
Shepard, E. R.;
Ayton, L. N.;
Pelenstov, L. J.;
Kearns, L. S.;
Galvin, K. L.

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

Pediatric Usher Syndrome Type 2A with Coexisting Rheumatic Heart Disease and Upper Gastro-Intestinal Bleed: A Case Report.

Published in:

Journal of the Nepal Medical Association, 2024, v. 62, n. 280, p. 847, doi. 10.31729/jnma.8849

By:

Yadav, Bishal;
Khadka, Tunam;
Shah, Toyendra Jung;
Phuyal, Mandish Prasad;
Lamichane, Rajesh;
Chaurasiya, Bikash

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

Bilateral uveitis and Usher syndrome: a case report.

Published in:

2015

By:

Benson, Matthew D.;
MacDonald, Ian M.

Publication type:

Case Study

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

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

Semen analysis in the Usher syndrome type 2A.

Published in:

1999

By:

van Aarem, A.;
Wagenaar, M.;
Tonnaer, E.;
Pieke Dahl, S.;
Bisseling, J.;
Janssen, H.;
Bastiaans, B.;
Kimberling, W.;
Cremers, C.

Publication type:

journal 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