Works matching DE "USHER'S syndrome"

Results: 414
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    Audiometric Characteristics of USH2a Patients.

    Published in:
    Audiology & Neurotology, 2009, v. 14, n. 4, p. 223, doi. 10.1159/000189265
    By:
    • Leijendeckers, Joop M.;
    • Pennings, Ronald J.E.;
    • Snik, Ad F.M.;
    • Bosman, Arjan J.;
    • Cremers, Cor W.R.J.
    Publication type:
    Article
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    Senear-Usher Syndrome.

    Published in:
    British Journal of Dermatology, 1952, v. 64, n. 7/8, p. 308
    By:
    • Coles, R. B.
    Publication type:
    Article
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    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
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    Etiologies of Early-Onset Hearing Impairment in Rwanda.

    Published in:
    Genes, 2025, v. 16, n. 3, p. 257, doi. 10.3390/genes16030257
    By:
    • Uwibambe, Esther;
    • Mutesa, Leon;
    • Muhizi, Charles;
    • Ncogoza, Isaie;
    • Twumasi Aboagye, Elvis;
    • Dukuze, Norbert;
    • Adadey, Samuel M.;
    • DeKock, Carmen;
    • Wonkam, Ambroise
    Publication type:
    Article
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    Syndromic Retinitis Pigmentosa: A 15-Patient Study.

    Published in:
    Genes, 2024, v. 15, n. 4, p. 516, doi. 10.3390/genes15040516
    By:
    • Holanda, Ianne Pessoa;
    • Rim, Priscila Hae Hyun;
    • Guaragna, Mara Sanches;
    • Gil-da-Silva-Lopes, Vera Lúcia;
    • Steiner, Carlos Eduardo
    Publication type:
    Article
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    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
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    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
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    USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses.

    Published in:
    European Journal of Human Genetics, 2002, v. 10, n. 6, p. 339, doi. 10.1038/sj.ejhg.5200831
    By:
    • Adato, Avital;
    • Vreugde, Sarah;
    • Joensuu, Tarja;
    • Avidan, Nili;
    • Hamalainen, Riikka;
    • Belenkiy, Olga;
    • Olender, Tsviya;
    • Bonne-Tamir, Batsheva;
    • Ben-Asher, Edna;
    • Espinos, Carmen;
    • Millan, Jose M.;
    • Lehesjoki, Anna-Elina;
    • Flannery, John G.;
    • Avraham, Karen B.;
    • Pietrokovski, Shmuel;
    • Sankila, Eeva-Marja;
    • Beckmann, Jacques S.;
    • Lancet, Doron
    Publication type:
    Article
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    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
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    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
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    Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.

    Published in:
    Nature Genetics, 2012, v. 44, n. 11, p. 1265, doi. 10.1038/ng.2426
    By:
    • Riazuddin, Saima;
    • Belyantseva, Inna A;
    • Giese, Arnaud P J;
    • Lee, Kwanghyuk;
    • Indzhykulian, Artur A;
    • Nandamuri, Sri Pratima;
    • Yousaf, Rizwan;
    • Sinha, Ghanshyam P;
    • Lee, Sue;
    • Terrell, David;
    • Hegde, Rashmi S;
    • Ali, Rana A;
    • Anwar, Saima;
    • Andrade-Elizondo, Paula B;
    • Sirmaci, Asli;
    • Parise, Leslie V;
    • Basit, Sulman;
    • Wali, Abdul;
    • Ayub, Muhammad;
    • Ansar, Muhammad
    Publication type:
    Article
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    A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene.

    Published in:
    Nature Genetics, 2000, v. 26, n. 1, p. 56, doi. 10.1038/79178
    By:
    • Bitner-Glindzicz, Maria;
    • Lindley, Keith J.;
    • Rutland, Paul;
    • Blaydon, Diana;
    • Smith, Virpi V.;
    • Milla, Peter J.;
    • Hussain, Khalid;
    • Furth-Lavi, Judith;
    • Cosgrove, Karen E.;
    • Shepherd, Ruth M.;
    • Barnes, Philippa D.;
    • O'Brien, Rachel E.;
    • Farndon, Peter A.;
    • Sowden, Jane;
    • Liu, Xue-Zhong;
    • Scanlan, Matthew J.;
    • Malcolm, Sue;
    • Dunne, Mark J.;
    • Aynsley-Green, Albert
    Publication type:
    Article
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