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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

816 related items for PubMed ID: 25633957

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  • 3. ILDR1: Novel mutation and a rare cause of congenital deafness in the Saudi Arabian population.
    Ramzan K, Taibah K, Tahir AI, Al-Tassan N, Berhan A, Khater AM, Al-Hazzaa SA, Al-Owain M, Imtiaz F.
    Eur J Med Genet; 2014; 57(6):253-8. PubMed ID: 24768815
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  • 7. Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene.
    Melkoniemi M, Brunner HG, Manouvrier S, Hennekam R, Superti-Furga A, Kääriäinen H, Pauli RM, van Essen T, Warman ML, Bonaventure J, Miny P, Ala-Kokko L.
    Am J Hum Genet; 2000 Feb; 66(2):368-77. PubMed ID: 10677296
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  • 8. Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss.
    Kalay E, Li Y, Uzumcu A, Uyguner O, Collin RW, Caylan R, Ulubil-Emiroglu M, Kersten FF, Hafiz G, van Wijk E, Kayserili H, Rohmann E, Wagenstaller J, Hoefsloot LH, Strom TM, Nürnberg G, Baserer N, den Hollander AI, Cremers FP, Cremers CW, Becker C, Brunner HG, Nürnberg P, Karaguzel A, Basaran S, Kubisch C, Kremer H, Wollnik B.
    Hum Mutat; 2006 Jul; 27(7):633-9. PubMed ID: 16752389
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  • 11. Exome Sequencing Identifies a Mutation in EYA4 as a Novel Cause of Autosomal Dominant Non-Syndromic Hearing Loss.
    Liu F, Hu J, Xia W, Hao L, Ma J, Ma D, Ma Z.
    PLoS One; 2015 Jul; 10(5):e0126602. PubMed ID: 25961296
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  • 14. Non-ocular Stickler syndrome with a novel mutation in COL11A2 diagnosed by massively parallel sequencing in Japanese hearing loss patients.
    Iwasa Y, Moteki H, Hattori M, Sato R, Nishio SY, Takumi Y, Usami S.
    Ann Otol Rhinol Laryngol; 2015 May; 124 Suppl 1():111S-7S. PubMed ID: 25780254
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  • 15. A mutation in SLC22A4 encoding an organic cation transporter expressed in the cochlea strial endothelium causes human recessive non-syndromic hearing loss DFNB60.
    Ben Said M, Grati M, Ishimoto T, Zou B, Chakchouk I, Ma Q, Yao Q, Hammami B, Yan D, Mittal R, Nakamichi N, Ghorbel A, Neng L, Tekin M, Shi XR, Kato Y, Masmoudi S, Lu Z, Hmani M, Liu X.
    Hum Genet; 2016 May; 135(5):513-524. PubMed ID: 27023905
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  • 17. Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing.
    Acke FR, Malfait F, Vanakker OM, Steyaert W, De Leeneer K, Mortier G, Dhooge I, De Paepe A, De Leenheer EM, Coucke PJ.
    Mol Genet Metab; 2014 Nov; 113(3):230-5. PubMed ID: 25240749
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  • 18. Novel MYO15A variants are associated with hearing loss in the two Iranian pedigrees.
    Khatami S, Askari M, Bahreini F, Hashemzadeh-Chaleshtori M, Hematian S, Asgharzade S.
    BMC Med Genet; 2020 Nov 18; 21(1):226. PubMed ID: 33208113
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  • 19. Identification of I411K, a novel missense EYA4 mutation causing autosomal dominant non‑syndromic hearing loss.
    Tan M, Shen X, Yao J, Wei Q, Lu Y, Cao X, Xing G.
    Int J Mol Med; 2014 Dec 18; 34(6):1467-72. PubMed ID: 25242383
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  • 20. Identification of three novel TECTA mutations in Iranian families with autosomal recessive nonsyndromic hearing impairment at the DFNB21 locus.
    Meyer NC, Alasti F, Nishimura CJ, Imanirad P, Kahrizi K, Riazalhosseini Y, Malekpour M, Kochakian N, Jamali P, Van Camp G, Smith RJ, Najmabadi H.
    Am J Med Genet A; 2007 Jul 15; 143A(14):1623-9. PubMed ID: 17431902
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