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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

218 related items for PubMed ID: 29151245

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  • 2. Detecting novel mutations and combined Klinefelter syndrome in Usher syndrome cases.
    Li X, Huang S, Yuan Y, Lu Y, Zhang D, Wang X, Yuan H, Han W, Dai P.
    Acta Otolaryngol; 2019 Jun; 139(6):479-486. PubMed ID: 31035849
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  • 5. Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype.
    Cesca F, Bettella E, Polli R, Leonardi E, Aspromonte MC, Sicilian B, Stanzial F, Benedicenti F, Sensi A, Ciorba A, Bigoni S, Cama E, Scimemi P, Santarelli R, Murgia A.
    J Hum Genet; 2020 Oct; 65(10):855-864. PubMed ID: 32467589
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  • 6. Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study.
    Mutai H, Suzuki N, Shimizu A, Torii C, Namba K, Morimoto N, Kudoh J, Kaga K, Kosaki K, Matsunaga T.
    Orphanet J Rare Dis; 2013 Oct 28; 8():172. PubMed ID: 24164807
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  • 9. Targeted next-generation sequencing reveals novel USH2A mutations associated with diverse disease phenotypes: implications for clinical and molecular diagnosis.
    Chen X, Sheng X, Liu X, Li H, Liu Y, Rong W, Ha S, Liu W, Kang X, Zhao K, Zhao C.
    PLoS One; 2014 Oct 28; 9(8):e105439. PubMed ID: 25133613
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  • 11. Identification of four novel mutations in MYO7A gene and their association with nonsyndromic deafness and Usher Syndrome 1B.
    Li Y, Su J, Ding C, Yu F, Zhu B.
    Int J Pediatr Otorhinolaryngol; 2019 May 28; 120():166-172. PubMed ID: 30826590
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  • 14. Targeted Next-Generation Sequencing Analysis Reveals a Novel Genetic Variant in MYO6 Gene in an Indian Family with Postlingual Nonsyndromic Hearing Loss.
    Raghuvanshi R, Panda KC, Ray CS, Ramchander PV.
    Genet Test Mol Biomarkers; 2024 Aug 28; 28(8):328-336. PubMed ID: 39019031
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  • 18. CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.
    Astuto LM, Bork JM, Weston MD, Askew JW, Fields RR, Orten DJ, Ohliger SJ, Riazuddin S, Morell RJ, Khan S, Riazuddin S, Kremer H, van Hauwe P, Moller CG, Cremers CW, Ayuso C, Heckenlively JR, Rohrschneider K, Spandau U, Greenberg J, Ramesar R, Reardon W, Bitoun P, Millan J, Legge R, Friedman TB, Kimberling WJ.
    Am J Hum Genet; 2002 Aug 28; 71(2):262-75. PubMed ID: 12075507
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  • 20. Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease.
    Reiners J, Nagel-Wolfrum K, Jürgens K, Märker T, Wolfrum U.
    Exp Eye Res; 2006 Jul 28; 83(1):97-119. PubMed ID: 16545802
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