Works matching DE "USHER'S syndrome"

Results: 392

The Relationship between Usher's Syndrome and Psychosis with Capgras Syndrome.

Published in:

Psychiatry: Interpersonal & Biological Processes, 2001, v. 64, n. 3, p. 248, doi. 10.1521/psyc.64.3.248.18467

By:

Waldeck, Tracy;
Wyszynski, Bernard;
Medalia, Alice

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

Biomarkers in Usher syndrome: ultra-widefield fundus autofluorescence and optical coherence tomography findings and their correlation with visual acuity and electrophysiology findings.

Published in:

Documenta Ophthalmologica, 2020, v. 141, n. 3, p. 205, doi. 10.1007/s10633-020-09765-0

By:

Mustafic, Nina;
Ristoldo, Federica;
Nguyen, Vuong;
Fraser, Clare L.;
Invernizzi, Alessandro;
Jamieson, Robyn V.;
Grigg, John R.

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

Optical coherence tomography biomarkers in MYO7A-inherited retinal dystrophy: longitudinal study in pediatric patients.

Published in:

Graefe's Archive of Clinical & Experimental Ophthalmology, 2024, v. 262, n. 10, p. 3375, doi. 10.1007/s00417-024-06545-3

By:

Subirà, Olaia;
Català-Mora, Jaume;
del Prado, Cristina;
Díaz-Cascajosa, Jesús;
Barraso Rodrigo, Marina;
Cobos, Estefanía;
Aguilera, Cinthia;
Esteve-Garcia, Anna;
García-Arumí, José;
Caminal, Josep M.

Publication type:

Article

Multidisciplinary approach to inherited causes of dual sensory impairment.

Published in:

Graefe's Archive of Clinical & Experimental Ophthalmology, 2024, v. 262, n. 3, p. 701, doi. 10.1007/s00417-023-06153-7

By:

Arias-Peso, Borja;
Calero-Ramos, María Luisa;
López-Ladrón García de la Borbolla, Cayetana;
López-Domínguez, Mireia;
Morillo-Sánchez, María José;
Méndez-Martínez, Silvia;
Sánchez-Gómez, Serafin;
Rodríguez-de-la-Rúa, Enrique

Publication type:

Article

Comparison of CRISPR-Cas13b RNA base editing approaches for USH2A-associated inherited retinal degeneration.

Published in:

Communications Biology, 2025, p. 1, doi. 10.1038/s42003-025-07557-3

By:

Fry, Lewis E.;
Major, Lauren;
Salman, Ahmed;
McDermott, Lucy A.;
Yang, Jun;
King, Andrew J.;
McClements, Michelle E.;
MacLaren, Robert E.

Publication type:

Article

Usher syndrome type 1-associated cadherins shape the photoreceptor outer segment.

Published in:

Journal of Cell Biology, 2017, v. 216, n. 6, p. 1849, doi. 10.1083/jcb.201612030

By:

de Monvel, Jacques Boutet;
El-Amraoui, Aziz;
Schietroma, Cataldo;
Petit, Christine;
Estivalet, Amrit;
Aghaie, Asadollah;
Picaud, Serge;
Sahel, José-Alain;
Parain, Karine;
Perron, Muriel

Publication type:

Article

Class III myosins shape the auditory hair bundles by limiting microvilli and stereocilia growth.

Published in:

Journal of Cell Biology, 2016, v. 212, n. 2, p. 231, doi. 10.1083/jcb.201509017

By:

Lelli, Andrea;
Michel, Vincent;
de Monvel, Jacques Boutet;
Cortese, Matteo;
Bosch-Grau, Montserrat;
Aghaie, Asadollah;
Perfettini, Isabelle;
Dupont, Typhaine;
Avan, Paul;
El-Amraoui, Aziz;
Petit, Christine

Publication type:

Article

Localization of Usher 1 proteins to the photoreceptor calyceal processes, which are absent from mice.

Published in:

Journal of Cell Biology, 2012, v. 199, n. 2, p. 381, doi. 10.1083/jcb.201202012

By:

Sahly, Iman;
Dufour, Eric;
Schietroma, Cataldo;
Michel, Vincent;
Bahloul, Amel;
Perfettini, Isabelle;
Pepermans, Elise;
Estivalet, Amrit;
Carette, Diane;
Aghaie, Asadollah;
Ebermann, Inga;
Lelli, Andrea;
Iribarne, Maria;
Hardelin, Jean-Pierre;
Weil, Dominique;
Sahel, José-Alain;
El-Amraoui, Aziz;
Petit, Christine

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

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

Success of targeted sequencing in the search for genetic causes of Usher syndrome type 2.

Published in:

Journal of Hearing Science, 2024, v. 14, n. 3, p. 138

By:

Ozieblo, D.;
Baldyga, N.;
Reurink, J.;
Skarzynski, H.;
Kremer, H.;
Oldak, M.

Publication type:

Article

Novel antisense therapy for USH2A patients.

Published in:

Journal of Hearing Science, 2024, v. 14, n. 3, p. 112

By:

Mauriac, S. A.;
Huang, Y-H.;
Jin, J.;
Phillips, J. B.;
Wegner, J.;
Westerfield, M.;
Koehler, K. R.;
Yu, T.;
Géléoc, G. S. G.

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

Usher Syndrome: Treatment of hearing loss and tinnitus.

Published in:

Journal of Hearing Science, 2017, v. 7, n. 2, p. 135

By:

Tomanek, E.;
Osinska, H.;
Skarzynski, P. H.;
Dziendziel, B.;
Skarzynska, M. B.

Publication type:

Article

Usher Syndrome and Color Vision.

Published in:

Current Eye Research, 2018, v. 43, n. 10, p. 1295, doi. 10.1080/02713683.2018.1501804

By:

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

Publication type:

Article

The usherin mutation c.2299delG leads to its mislocalization and disrupts interactions with whirlin and VLGR1.

Published in:

Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-36431-1

By:

Tebbe, Lars;
Mwoyosvi, Maggie L.;
Crane, Ryan;
Makia, Mustafa S.;
Kakakhel, Mashal;
Cosgrove, Dominic;
Al-Ubaidi, Muayyad R.;
Naash, Muna I.

Publication type:

Article

The Use of Visual Feedback During Signing: Evidence From Signers With Impaired Vision.

Published in:

Journal of Deaf Studies & Deaf Education, 2009, v. 14, n. 1, p. 99, doi. 10.1093/deafed/enn020

By:

Emmorey, Karen;
Korpics, Franco;
Petronio, Karen

Publication type:

Article

Natural Disease Course in Usher Syndrome Patients Harboring USH2A Variant p.Cys870* in Exon 13, Amenable to Exon Skipping Therapy.

Published in:

Genes, 2023, v. 14, n. 3, p. 652, doi. 10.3390/genes14030652

By:

Čadonič, Katja;
Sajovic, Jana;
Hawlina, Marko;
Fakin, Ana

Publication type:

Article

Towards a Cure for HARS Disease.

Published in:

Genes, 2023, v. 14, n. 2, p. 254, doi. 10.3390/genes14020254

By:

Wilhelm, Sarah D. P.;
Kenana, Rosan;
Qiu, Yi;
O'Donoghue, Patrick;
Heinemann, Ilka U.

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

Peripheral Anomalies in USH2A Cause Central Auditory Anomalies in a Mouse Model of Usher Syndrome and CAPD.

Published in:

Genes, 2021, v. 12, n. 2, p. 151, doi. 10.3390/genes12020151

By:

Perrino, Peter A.;
Newbury, Dianne F.;
Fitch, R. Holly;
Castillo, Ignacio del;
Kremer, Hannie

Publication type:

Article

Identification of Novel CDH23 Variants Causing Moderate to Profound Progressive Nonsyndromic Hearing Loss.

Published in:

Genes, 2020, v. 11, n. 12, p. 1474, doi. 10.3390/genes11121474

By:

Ramzan, Khushnooda;
Al-Numair, Nouf S.;
Al-Ageel, Sarah;
Elbaik, Lina;
Sakati, Nadia;
Al-Hazzaa, Selwa A. F.;
Al-Owain, Mohammed;
Imtiaz, Faiqa

Publication type:

Article

Hearing Impairment Overview in Africa: the Case of Cameroon.

Published in:

Genes, 2020, v. 11, n. 2, p. 233, doi. 10.3390/genes11020233

By:

Wonkam Tingang, Edmond;
Noubiap, Jean Jacques;
F. Fokouo, Jean Valentin;
Oluwole, Oluwafemi Gabriel;
Nguefack, Séraphin;
Chimusa, Emile R.;
Wonkam, Ambroise

Publication type:

Article

Next Generation Sequencing Identifies Five Novel Mutations in Lebanese Patients with Bardet–Biedl and Usher Syndromes.

Published in:

Genes, 2019, v. 10, n. 12, p. 1047, doi. 10.3390/genes10121047

By:

Jaffal, Lama;
Joumaa, Wissam H;
Assi, Alexandre;
Helou, Charles;
Cherfan, George;
Zibara, Kazem;
Audo, Isabelle;
Zeitz, Christina;
El Shamieh, Said

Publication type:

Article

GJB2 and GJB6 Mutations in Hereditary Recessive Non-Syndromic Hearing Impairment in Cameroon.

Published in:

Genes, 2019, v. 10, n. 11, p. 844, doi. 10.3390/genes10110844

By:

Tingang Wonkam, Edmond;
Chimusa, Emile;
Noubiap, Jean Jacques;
Adadey, Samuel Mawuli;
F. Fokouo, Jean Valentin;
Wonkam, Ambroise

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

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

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

Fine-scale genetic structure and rare variant frequencies.

Published in:

PLoS ONE, 2024, v. 19, n. 11, p. 1, doi. 10.1371/journal.pone.0313133

By:

Gagnon, Laurence;
Moreau, Claudia;
Laprise, Catherine;
Girard, Simon L.

Publication type:

Article

Ocular morbidity in hearing impaired schoolchildren.

Published in:

Child: Care, Health & Development, 2011, v. 37, n. 3, p. 394, doi. 10.1111/j.1365-2214.2010.01137.x

By:

Bist, J.;
Adhikari, P.;
Sharma, A. K.

Publication type:

Article

A clinical evaluation of ophthalmic assessment in children with sensori-neural deafness.

Published in:

Child: Care, Health & Development, 2003, v. 29, n. 5, p. 377, doi. 10.1046/j.1365-2214.2003.00355.x

By:

Guy, R.;
Nicholson, J.;
Pannu, S. S.;
Holden, R.

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

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 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

Usher syndrome: a review of the clinical phenotype, genes and therapeutic strategies.

Published in:

Expert Review of Ophthalmology, 2015, v. 10, n. 3, p. 241, doi. 10.1586/17469899.2015.1033403

By:

Toms, Maria;
Bitner-Glindzicz, Maria;
Webster, Andrew;
Moosajee, Mariya

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

PHARC syndrome: an overview.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03418-0

By:

Harutyunyan, Lusine;
Callaerts, Patrick;
Vermeer, Sascha

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

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

Auditory and vestibular hair cell stereocilia: relationship between functionality and inner ear disease.

Published in:

Journal of Laryngology & Otology, 2011, v. 125, n. 10, p. 991, doi. 10.1017/S0022215111001459

By:

Ciuman, R R

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

Pathogenic Variants in USH1G /SANS Alter Protein Interaction with Pre-RNA Processing Factors PRPF6 and PRPF31 of the Spliceosome.

Published in:

International Journal of Molecular Sciences, 2023, v. 24, n. 24, p. 17608, doi. 10.3390/ijms242417608

By:

Fritze, Jacques S.;
Stiehler, Felizitas F.;
Wolfrum, Uwe

Publication type:

Article

RNA-Seq Analysis Reveals an Essential Role of the cGMP-PKG-MAPK Pathways in Retinal Degeneration Caused by Cep250 Deficiency.

Published in:

International Journal of Molecular Sciences, 2023, v. 24, n. 10, p. 8843, doi. 10.3390/ijms24108843

By:

Chen, Chong;
Rong, Yu;
Zhuang, Youyuan;
Tang, Cheng;
Liu, Qian;
Lin, Peng;
Li, Dandan;
Zhao, Xinyi;
Lu, Fan;
Qu, Jia;
Liu, Xinting

Publication type:

Article