Works matching DE "USHER'S syndrome"

Results: 413

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

Published in:

Journal of Hearing Science, 2025, v. 15, n. 1, p. 111

By:

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

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

A Genetic Basis for Mechanosensory Traits in Humans.

Published in:

PLoS Biology, 2012, v. 10, n. 5, p. 1, doi. 10.1371/journal.pbio.1001318

By:

Frenzel, Henning;
Bohlender, Jörg;
Pinsker, Katrin;
Wohlleben, Bärbel;
Tank, Jens;
Lechner, Stefan G.;
Schiska, Daniela;
Jaijo, Teresa;
Rüschendorf, Franz;
Saar, Kathrin;
Jordan, Jens;
Millán, JoséM.;
Gross, Manfred;
Lewin, Gary R.

Publication type:

Article

Defective myosin VIIA gene responsible for Usher syndrome type 1B.

Published in:

Nature, 1995, v. 374, n. 6517, p. 60, doi. 10.1038/374060a0

By:

Weil, Dominique;
Blanchard, Stephane

Publication type:

Article

The First Epiretinal Implant for Hereditary Blindness in the Asia-Pacific Region.

Published in:

Hawai'i Journal of Health & Social Welfare, 2021, v. 80, p. 10

By:

Yanagihara, Ryan T.;
Yamane, Maya L. M.;
Kokame, Gregg T.

Publication type:

Article

Ophthalmological screening of a paediatric cochlear implant population: a retrospective analysis and 12-year follow-up.

Published in:

Eye (0950-222X), 2010, v. 24, n. 6, p. 1031, doi. 10.1038/eye.2009.248

By:

Falzon, K.;
Guerin, M.;
Fulcher, T.;
Viani, L.

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

Rectifying or Reinforcing? The (In)Equity Implications of Recontacting Practices in Genomic Medicine.

Published in:

Hastings Center Report, 2024, v. 54, p. S22, doi. 10.1002/hast.4926

By:

Mackley, Michael P.;
Faghfoury, Hanna;
Chad, Lauren

Publication type:

Article

Mutation spectrum of hearing loss patients in Northwest China: Identification of 20 novel variants.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 6, p. 1, doi. 10.1002/mgg3.2434

By:

Ma, Panpan;
Zhou, Bingbo;
Kang, Qichao;
Chen, Xue;
Tian, Xinyuan;
Hui, Ling;
Hao, Shengju;
Wu, Huiyan;
Zhang, Chuan

Publication type:

Article

Custom Next‐Generation Sequencing Identifies Novel Mutations Expanding the Molecular and clinical spectrum of isolated Hearing Impairment or along with defects of the retina, the thyroid, and the kidneys.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 2, p. 1, doi. 10.1002/mgg3.1868

By:

Said, Mariem Ben;
Ayed, Ikhlas Ben;
Elloumi, Ines;
Hasnaoui, Mehdi;
Souissi, Amal;
Idriss, Nabil;
Aloulou, Hajer;
Chabchoub, Imen;
Maâlej, Bayen;
Driss, Dorra;
Masmoudi, Saber

Publication type:

Article

Usher syndrome type 2A complicated with glycogen storage disease type 3 due to paternal uniparental isodisomy of chromosome 1 in a sporadic patient.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 10, p. 1, doi. 10.1002/mgg3.1779

By:

Wang, Hua;
Huo, Liang;
Wang, Yajian;
Sun, Weiwei;
Gu, Weiyue

Publication type:

Article

Extending the spectrum of CLRN1‐ and ABCA4‐associated inherited retinal dystrophies caused by novel and recurrent variants using exome sequencing.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 3, p. 1, doi. 10.1002/mgg3.1123

By:

Abu‐Ameerh, Mohammed;
Mohammad, Hashim;
Dardas, Zain;
Barham, Raghda;
Ali, Dema;
Bijawi, Maysa;
Tawalbeh, Mohamed;
Amr, Sami;
Hatmal, Ma'mon M.;
Al‐Bdour, Muawyah;
Awidi, Abdalla;
Azab, Belal

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

Usher syndrome in Denmark: mutation spectrum and some clinical observations.

Published in:

Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 5, p. 527, doi. 10.1002/mgg3.228

By:

Dad, Shzeena;
Rendtorff, Nanna Dahl;
Tranebjærg, Lisbeth;
Grønskov, Karen;
Karstensen, Helena Gásdal;
Brox, Vigdis;
Nilssen, Øivind;
Roux, Anne‐Françoise;
Rosenberg, Thomas;
Jensen, Hanne;
Møller, Lisbeth Birk

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

Vestibulo-ocular reflex dynamics with head-impulses discriminates Usher patients type 1 and 2.

Published in:

Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-54270-y

By:

Amorim, Ana Margarida;
Ramada, Ana Beatriz;
Lopes, Ana Cristina;
Duarte Silva, Eduardo;
Lemos, João;
Ribeiro, João Carlos

Publication type:

Article

Multimodal photoacoustic microscopy, optical coherence tomography, and fluorescence imaging of USH2A knockout rabbits.

Published in:

Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-48872-1

By:

Nguyen, Van Phuc;
Hu, Justin;
Zhe, Josh;
Chen, Eugene Y.;
Yang, Dongshan;
Paulus, Yannis M.

Publication type:

Article

Allelic hierarchy for USH2A influences auditory and visual phenotypes in South Korean patients.

Published in:

Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-47166-w

By:

Nam, Dong Woo;
Song, Yong Keun;
Kim, Jeong Hun;
Lee, Eun Kyoung;
Park, Kyu Hyung;
Cha, JuHyuen;
Choi, Byung Yoon;
Lee, Jun Ho;
Oh, Seung Ha;
Jo, Dong Hyun;
Lee, Sang-Yeon

Publication type:

Article

Enamel defects and ectopic eruption in a child with Usher syndrome and a cochlear implant.

Published in:

International Journal of Paediatric Dentistry, 2007, v. 17, n. 1, p. 57, doi. 10.1111/j.1365-263X.2006.00778.x

By:

BALMER, RICHARD;
FAYLE, STEPHEN A. F.

Publication type:

Article

Optic Nerve Coloboma in a Child With Compound Heterozygous USH2A Variants.

Published in:

2025

By:

Levine, Emily S.;
Shah, Nidhi D.;
Salcone, Erin M.;
Damante, Giuseppe

Publication type:

Case Study

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

Awareness of Usher Syndrome and the Need for Multidisciplinary Care: A Cross-Occupational Survey of Allied Health Clinicians.

Published in:

Journal of Multidisciplinary Healthcare, 2023, v. 16, p. 1927, doi. 10.2147/JMDH.S411306

By:

Ayton, Lauren N;
Galvin, Karyn L;
Johansen, Lauren;
O'Hare, Fleur;
Shepard, Emily R

Publication type:

Article

Zebrafish myo7aa affects congenital hearing by regulating Rho-GTPase signaling.

Published in:

Frontiers in Molecular Neuroscience, 2024, p. 1, doi. 10.3389/fnmol.2024.1405109

By:

Binling Xie;
Jiaxin Liang;
Jifan Jiang;
Ting Zeng;
Ling Liu;
Dinghua Xie;
Ganghua Zhu;
Lei Xiong;
Kanjia Zhang;
Dong Liu;
Jie Gong;
Xiangding Chen;
Ruosha Lai;
Huaping Xie

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

Novel grading system for quantification of cystic macular lesions in Usher syndrome.

Published in:

2015

By:

Sliesoraityte, Ieva;
Peto, Tunde;
Mohand-Said, Saddek;
Sahel, Jose Alain

Publication type:

journal article

Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.

Published in:

Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0329-3

By:

Lichun Jiang;
Xiaofang Liang;
Yumei Li;
Jing Wang;
Zaneveld, Jacques Eric;
Hui Wang;
Shan Xu;
Keqing Wang;
Binbin Wang;
Rui Chen;
Ruifang Sui

Publication type:

Article

Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.

Published in:

Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0329-3

By:

Lichun Jiang;
Xiaofang Liang;
Yumei Li;
Jing Wang;
Zaneveld, Jacques Eric;
Hui Wang;
Shan Xu;
Keqing Wang;
Binbin Wang;
Rui Chen;
Ruifang Sui

Publication type:

Article

High prevalence of CDH23 mutations in patients with congenital high-frequency sporadic or recessively inherited hearing loss.

Published in:

Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0276-z

By:

Kunio Mizutari;
Hideki Mutai;
Kazunori Namba;
Yuko Miyanaga;
Atsuko Nakano;
Yukiko Arimoto;
Sawako Masuda;
Noriko Morimoto;
Hirokazu Sakamoto;
Kimitaka Kaga;
Tatsuo Matsunaga

Publication type:

Article

Clarin‐1 expression in adult mouse and human retina highlights a role of Müller glia in Usher syndrome.

Published in:

Journal of Pathology, 2020, v. 250, n. 2, p. 195, doi. 10.1002/path.5360

By:

Xu, Lei;
Bolch, Susan N;
Santiago, Clayton P;
Dyka, Frank M;
Akil, Omar;
Lobanova, Ekaterina S;
Wang, Yuchen;
Martemyanov, Kirill A;
Hauswirth, William W;
Smith, W Clay;
Handa, James T;
Blackshaw, Seth;
Ash, John D;
Dinculescu, Astra

Publication type:

Article

THE Contribution OF Genetics TO Hearing Impairment.

Published in:

Audiology Today, 2011, v. 23, n. 2, p. 20

By:

Avraham, Karen B.

Publication type:

Article

Long-term visual outcomes and rehabilitation in Usher syndrome type II after retinal implant Argus II.

Published in:

2018

By:

Nadal, Jeroni;
Iglesias, María;
Iglesias, María

Publication type:

journal article

Progress in demystification of adhesion G protein-coupled receptors.

Published in:

Biological Chemistry, 2013, v. 394, n. 8, p. 937, doi. 10.1515/hsz-2013-0109

By:

Liebscher, Ines;
Schöneberg, Torsten;
Prömel, Simone

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

Current Approaches to the Management of Usher Syndrome for the Clinician.

Published in:

Perspectives of the ASHA Special Interest Groups, 2020, v. 5, n. 4, p. 907, doi. 10.1044/2020_PERSP-20-00013

By:

Koleilat, Alaa;
Schimmenti, Lisa A.;
Polinge, Gayla L.

Publication type:

Article

Combined Presence in Heterozygosis of Two Variant Usher Syndrome Genes in Two Siblings Affected by Isolated Profound Age-Related Hearing Loss.

Published in:

Biomedicines, 2023, v. 11, n. 10, p. 2657, doi. 10.3390/biomedicines11102657

By:

Borgese, Nica;
Guillén-Samander, Andrés;
Colombo, Sara Francesca;
Mancassola, Giulia;
Di Berardino, Federica;
Zanetti, Diego;
Carrera, Paola

Publication type:

Article

The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian Population.

Published in:

Biomedicines, 2023, v. 11, n. 3, p. 703, doi. 10.3390/biomedicines11030703

By:

Spedicati, Beatrice;
Santin, Aurora;
Nardone, Giuseppe Giovanni;
Rubinato, Elisa;
Lenarduzzi, Stefania;
Graziano, Claudio;
Garavelli, Livia;
Miccoli, Sara;
Bigoni, Stefania;
Morgan, Anna;
Girotto, Giorgia

Publication type:

Article

Proposed therapy, developed in a Pcdh15-deficient mouse, for progressive loss of vision in human Usher syndrome.

Published in:

eLife, 2021, p. 1, doi. 10.7554/eLife.67361

By:

Sethna, Saumil;
Zein, Wadih M.;
Riaz, Sehar;
Giese, Arnaud P. J.;
Schultz, Julie M.;
Duncan, Todd;
Hufnagel, Robert B.;
Brewer, Carmen C.;
Griffith, Andrew J.;
Redmond, T. Michael;
Riazuddin, Saima;
Friedman, Thomas B.;
Ahmed, Zubair M.

Publication type:

Article

Genetic spectrum of retinal dystrophies in Tunisia.

Published in:

Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-67792-y

By:

Habibi, Imen;
Falfoul, Yosra;
Turki, Ahmed;
Hassairi, Asma;
El Matri, Khaled;
Chebil, Ahmed;
Schorderet, Daniel F.;
El Matri, Leila

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

Harp (harmonin-interacting, ankyrin repeat-containing protein), a novel protein that interacts with harmonin in epithelial tissues.

Published in:

Genes to Cells, 2004, v. 9, n. 10, p. 967, doi. 10.1111/j.1365-2443.2004.00776.x

By:

Johnston, Anne M.;
Naselli, Gaetano;
Niwa, Hideo;
Brodnicki, Thomas;
Harrison, Leonard C.;
Gá&ntild;ez, L. Jorge

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

Navigating the Usher Syndrome Genetic Landscape: An Evaluation of the Associations between Specific Genes and Quality Categories of Cochlear Implant Outcomes.

Published in:

Audiology Research, 2024, v. 14, n. 2, p. 254, doi. 10.3390/audiolres14020023

By:

Busi, Micol;
Castiglione, Alessandro

Publication type:

Article

Which Came First? When Usher Syndrome Type 1 Couples with Neuropsychiatric Disorders.

Published in:

Audiology Research, 2023, v. 13, n. 6, p. 989, doi. 10.3390/audiolres13060086

By:

Tesolin, Paola;
Santin, Aurora;
Morgan, Anna;
Lenarduzzi, Stefania;
Rubinato, Elisa;
Girotto, Giorgia;
Spedicati, Beatrice

Publication type:

Article

Usher Syndrome.

Published in:

Audiology Research, 2022, v. 12, n. 1, p. 42, doi. 10.3390/audiolres12010005

By:

Castiglione, Alessandro;
Möller, Claes

Publication type:

Article

Usher syndrome.

Published in:

Nursing Children & Young People, 2018, v. 30, n. 6, p. 18, doi. 10.7748/ncyp.30.6.18.s16

By:

Crawford, Doreen

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

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