Works matching DE "USHER'S syndrome"

Results: 420

Whole-Exome Sequencing Targeting a Gene Panel for Sensorineural Hearing Loss: The First Portuguese Cohort Study.

Published in:

Cytogenetic & Genome Research, 2022, v. 162, n. 1/2, p. 1, doi. 10.1159/000523840

By:

Reis, Cláudia Sousa;
Quental, Sofia;
Fernandes, Susana;
Castedo, Sérgio;
Moura, Carla Pinto

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

Usher Syndrome in Adult Nigerians: Report of Two Cases.

Published in:

Orient Journal of Medicine, 2022, v. 34, n. 3/4, p. 118

By:

NWOSU, Sebastian N. N.;
NDULUE, Chikaodili U.;
NDULUE, Oluchi I.;
UBA-OBIANO, Chizoba U.

Publication type:

Article

Machine Learning-Based Ensemble Feature Selection and Nested Cross-Validation for miRNA Biomarker Discovery in Usher Syndrome.

Published in:

Bioengineering (Basel), 2025, v. 12, n. 5, p. 497, doi. 10.3390/bioengineering12050497

By:

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

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

Expressivity of hearing loss in cases with Usher syndrome type IIA.

Published in:

International Journal of Audiology, 2013, v. 52, n. 12, p. 832, doi. 10.3109/14992027.2013.839885

By:

Sadeghi, André M.;
Cohn, Edward S.;
Kimberling, William J.;
Halvarsson, Glenn;
Möller, Claes

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

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

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

Das Usher-Syndrom -- eine erworbene Hörsehbehinderung. Grundlagen -- Ursachen -- Hilfen.

Published in:

Praxis Sprache, 2015, v. 60, n. 2, p. 120

By:

Pohl, Andreas

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

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

Novel RDH5 Mutation in Family with Mother Having Fundus Albipunctatus and Three Children with Retinitis Pigmentosa.

Published in:

Ophthalmic Genetics, 2008, v. 29, n. 1, p. 29, doi. 10.1080/13816810701663535

By:

Wang, Chunxia;
Nakanishi, Nobuo;
Ohishi, Kentaro;
Hikoya, Akiko;
Koide, Kenro;
Sato, Miho;
Nakamura, Makoto;
Hotta, Yoshihiro;
Minoshima, Shinsei

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

Prevalence of 2314delG mutation in Spanish patients with Ushersyndrome type II (USH2).

Published in:

Ophthalmic Genetics, 2000, v. 21, n. 2, p. 123, doi. 10.1076/1381-6810(200006)21:2;1-8;FT123

By:

Beneyto, Magdalena;
Cuevas, José M.;
Millán, José M.;
Espinós, Carmen;
Mateu, Emilia;
González-Cabo, Pilar;
Baiget, Montserrat;
Doménech, Montserrat;
Bernal, Sara;
Ayuso, Carmen;
García-Sandoval, Blanca;
Trujillo, Ma José;
Borrego, Salud;
Antiñolo, Guillermo;
Carballo, Miguel;
Nájera, Carmen

Publication type:

Article

Normal range of hearing associated with myocilin Thr377Met.

Published in:

Ophthalmic Genetics, 1999, v. 20, n. 3, p. 205, doi. 10.1076/opge.20.3.205.2279

By:

Simm, Rae M.;
Fingert, John H.;
Craig, Jamie E.;
McNaught, Andrew I.;
Mackey, David A.

Publication type:

Article

Visual Outcomes in Japanese Patients with Retinitis Pigmentosa and Usher Syndrome Caused by USH2A Mutations.

Published in:

2018

By:

Nagase, Yasunori;
Kurata, Kentaro;
Hosono, Katsuhiro;
Suto, Kimiko;
Hikoya, Akiko;
Nakanishi, Hiroshi;
Mizuta, Kunihiro;
Mineta, Hiroyuki;
Minoshima, Shinsei;
Hotta, Yoshihiro

Publication type:

journal article

Novel Pathognomonic Variant of Atypical Type IV Usher Syndrome with Retinitis Pigmentosa-A Case Report.

Published in:

Journal of Clinical & Diagnostic Research, 2022, v. 16, n. 2, p. 1, doi. 10.7860/JCDR/2022/52947.15954

By:

VENDHAN, K. EZHIL;
HARSHITHA, S.;
KUMAR, ARUN;
GAUTAM, APRAJITHA;
KANNAN, R. RAJESH

Publication type:

Article

Preimplantation genetic testing for a family with usher syndrome through targeted sequencing and haplotype analysis.

Published in:

BMC Medical Genomics, 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s12920-019-0600-x

By:

Luo, Haining;
Chen, Chao;
Yang, Yun;
Zhang, Yinfeng;
Yuan, Yuan;
Wang, Wanyang;
Wu, Renhua;
Peng, Zhiyu;
Han, Ying;
Jiang, Lu;
Yao, Ruqiang;
An, Xiaoying;
Zhang, Weiwei;
Le, Yanqun;
Xiang, Jiale;
Yi, Na;
Huang, Hui;
Li, Wei;
Zhang, Yunshan;
Sun, Jun

Publication type:

Article

Rare health conditions 4: acromegaly, Usher syndrome, phenylketonuria (PKU).

Published in:

British Journal of Healthcare Assistants, 2017, v. 11, n. 9, p. 430, doi. 10.12968/bjha.2017.11.9.430

By:

Barber, Chris

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

Affinity Proteomics Identifies Interaction Partners and Defines Novel Insights into the Function of the Adhesion GPCR VLGR1/ADGRV1.

Published in:

Molecules, 2022, v. 27, n. 10, p. 3108, doi. 10.3390/molecules27103108

By:

Knapp, Barbara;
Roedig, Jens;
Roedig, Heiko;
Krzysko, Jacek;
Horn, Nicola;
Güler, Baran E.;
Kusuluri, Deva Krupakar;
Yildirim, Adem;
Boldt, Karsten;
Ueffing, Marius;
Liebscher, Ines;
Wolfrum, Uwe

Publication type:

Article

Decoding the consecutive lysosomal degradation of 3-O-sulfate containing heparan sulfate by Arylsulfatase G (ARSG).

Published in:

Biochemical Journal, 2021, v. 478, n. 17, p. 3221, doi. 10.1042/BCJ20210415

By:

Kowalewski, Björn;
Lange, Heike;
Galle, Sabrina;
Dierks, Thomas;
Lübke, Torben;
Damme, Markus

Publication type:

Article

Concomitant ulcerative colitis and Usher syndrome in a Pakistani patient: A novel case report.

Published in:

SAGE Open Medical Case Reports, 2024, p. 1, doi. 10.1177/2050313X241272501

By:

Siddiqui, Fatima Zulfiqar;
Ashkar, Anusha;
Aamir, Saira Maryam

Publication type:

Article

Usher syndrome and Nebulin‐associated myopathy in a single patient due to variants in MYO7A and NEB.

Published in:

Clinical Case Reports, 2020, v. 8, n. 12, p. 2476, doi. 10.1002/ccr3.3146

By:

Maia, Nuno;
Soares, Ana Rita;
Fortuna, Ana Maria;
Marques, Isabel;
Gonçalves, Ana;
Santos, Rosário;
Melo Pires, Manuel;
de Brouwer, Arjan P. M.;
Jorge, Paula

Publication type:

Article

Genetička etiologija oštećenja sluha u hrvatskoj kod osoba negativnih na varijante u GJB2.

Published in:

Paediatria Croatica, 2025, v. 69, p. 83, doi. 10.13112/pc.1055

By:

Sansović, Ivona;
Meašić, Ana-Maria;
Bobinec, Adriana;
Mikloš, Morana;
Odak, Ljubica;
Vulin, Katarina

Publication type:

Article

Touch The Future: A Manifesto in Essays.

Published in:

Canadian Journal of Disability Studies, 2024, v. 13, n. 1, p. 164, doi. 10.15353/cjds.v13i1.1082

By:

Luanjiao Hu

Publication type:

Article

Unravelling the Complexity of Inherited Retinal Dystrophies Molecular Testing: Added Value of Targeted Next-Generation Sequencing.

Published in:

BioMed Research International, 2016, v. 2016, p. 1, doi. 10.1155/2016/6341870

By:

Bernardis, Isabella;
Chiesi, Laura;
Tenedini, Elena;
Artuso, Lucia;
Percesepe, Antonio;
Artusi, Valentina;
Simone, Maria Luisa;
Manfredini, Rossella;
Camparini, Monica;
Rinaldi, Chiara;
Ciardella, Antonio;
Graziano, Claudio;
Balducci, Nicole;
Tranchina, Antonia;
Cavallini, Gian Maria;
Pietrangelo, Antonello;
Marigo, Valeria;
Tagliafico, Enrico

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

Beneficial Effect of Treatment for Strabismus in Patients with Bilaterally Poor Vision, Who Cannot See Their Strabismus.

Published in:

Strabismus (09273972), 2013, v. 21, n. 1, p. 33, doi. 10.3109/09273972.2012.742119

By:

Dawson, Emma L. M.;
Leung, Harry;
Webster, Andrew;
Lee, John P.

Publication type:

Article

Genetic Analysis for Two Italian Siblings with Usher Syndrome and Schizophrenia.

Published in:

Case Reports in Ophthalmological Medicine, 2012, p. 1, doi. 10.1155/2012/380863

By:

Domanico, Daniela;
Fragiotta, Serena;
Trabucco, Paolo;
Nebbioso, Marcella;
Vingolo, Enzo Maria

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

JAAA CEU Program.

Published in:: Journal of the American Academy of Audiology, 2024, v. 35, n. 9/10, p. 270, doi. 10.1055/s-0045-1801839
Publication type:: Article

Pendular Nystagmus Presenting in Usher Syndrome Type I: A Case Report.

Published in:

Journal of the American Academy of Audiology, 2024, v. 35, n. 9/10, p. 263, doi. 10.1055/a-2318-1389

By:

Bogle, Jamie M.;
Zapala, David A.

Publication type:

Article

Usher's syndrome: Can primarily be a primary ciliary disorder?

Published in:

2014

By:

Kulkarni, Swapnil S.;
Karkhanis, Vinaya S.;
Joshi, Jyotsna M.

Publication type:

Letter to the Editor

Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families.

Published in:

PLoS ONE, 2018, v. 13, n. 6, p. 1, doi. 10.1371/journal.pone.0199048

By:

Pérez-Carro, Raquel;
Blanco-Kelly, Fiona;
Galbis-Martínez, Lilián;
García-García, Gema;
Aller, Elena;
García-Sandoval, Blanca;
Mínguez, Pablo;
Corton, Marta;
Mahíllo-Fernández, Ignacio;
Martín-Mérida, Inmaculada;
Avila-Fernández, Almudena;
Millán, José M.;
Ayuso, Carmen

Publication type:

Article

Erectile disfunction medical treatment with phosphodiesterase 5 inhibitors (PDE5i) in patients with retinitis pigmentosa and side effects.

Published in:

Archives of Italian Urology & Andrology / Archivio Italiano di Urologia Andrologia, 2020, v. 92, n. 4, p. 326, doi. 10.4081/aiua.2020.4.326

By:

Cocci, Andrea;
Romano, Andrea;
Morelli, Girolamo;
Frediani, Davide;
Sodi, Andrea;
Russo, Giorgio Ivan

Publication type:

Article

The origins of the full-field flash electroretinogram b-wave.

Published in:

Frontiers in Molecular Neuroscience, 2023, p. 1, doi. 10.3389/fnmol.2023.1153934

By:

Bhatt, Yashvi;
Hunt, David M.;
Carvalho, Livia S.

Publication type:

Article

A Novel Mouse Model of MYO7A USH1B Reveals Auditory and Visual System Haploinsufficiencies.

Published in:

Frontiers in Neuroscience, 2019, v. 13, p. 1, doi. 10.3389/fnins.2019.01255

By:

Calabro, Kaitlyn R.;
Boye, Sanford L.;
Choudhury, Shreyasi;
Fajardo, Diego;
Peterson, James J.;
Li, Wei;
Crosson, Sean M.;
Kim, Mi-Jung;
Ding, Dalian;
Salvi, Richard;
Someya, Shinichi;
Boye, Shannon E.

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

This Week in The Journal.

Published in:

Journal of Neuroscience, 2015, v. 35, n. 28, p. i

By:

Esch, Teresa

Publication type:

Article

Localization of PDZD7 to the Stereocilia Ankle-Link Associates this Scaffolding Protein with the Usher Syndrome Protein Network.

Published in:

Journal of Neuroscience, 2012, v. 32, n. 41, p. 14288, doi. 10.1523/JNEUROSCI.3071-12.2012

By:

Grati, M'hamed;
Jung-Bum Shin;
Weston, Michael D.;
Green, James;
Bhat, Manzoor A.;
Gillespie, Peter G.;
Kachar, Bechara

Publication type:

Article

Regulated Vesicular Trafficking of Specific PCDH15 and VLGRl Variants in Auditory Hair Cells.

Published in:

Journal of Neuroscience, 2012, v. 32, n. 40, p. 13841, doi. 10.1523/JNEUROSCI.1242-12.2012

By:

Zallocchi, Marisa;
Delimont, Duane;
Median, Daniel T.;
Cosgrove, Dominic

Publication type:

Article