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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

224 related items for PubMed ID: 25752103

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  • 2. Hereditary palmoplantar keratoderma and deafness resulting from genetic mutation of Connexin 26.
    Lee JY, In SI, Kim HJ, Jeong SY, Choung YH, Kim YC.
    J Korean Med Sci; 2010 Oct; 25(10):1539-42. PubMed ID: 20890442
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  • 4. Autosomal dominant prelingual hearing loss with palmoplantar keratoderma syndrome: Variability in clinical expression from mutations of R75W and R75Q in the GJB2 gene.
    Birkenhäger R, Lüblinghoff N, Prera E, Schild C, Aschendorff A, Arndt S.
    Am J Med Genet A; 2010 Jul; 152A(7):1798-802. PubMed ID: 20583176
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  • 5. De novo dominant mutation of GJB2 in two Chinese families with nonsyndromic hearing loss.
    Huang S, Yuan Y, Liu J, Han D, Kang D, Zhang X, Dong M, Yan X, Dai P.
    Int J Pediatr Otorhinolaryngol; 2011 Oct; 75(10):1333-6. PubMed ID: 21868108
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  • 7. Identification of a p.R143Q dominant mutation in the gap junction beta-2 gene in three Chinese patients with different hearing phenotypes.
    Huang S, Wang G, Xu Y, Yuan Y, Han D, Dai P.
    Acta Otolaryngol; 2013 Jan; 133(1):55-8. PubMed ID: 22991996
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  • 11. A mild phenotype of sensorineural hearing loss and palmoplantar keratoderma caused by a novel GJB2 dominant mutation.
    Stanghellini I, Genovese E, Palma S, Falcinelli C, Presutti L, Percesepe A.
    Acta Otorhinolaryngol Ital; 2017 Aug; 37(4):308-311. PubMed ID: 28872160
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  • 12. Intra-familial phenotypic variability in a Moroccan family with hearing loss and palmoplantar keratoderma (PPK).
    Bousfiha A, Bakhchane A, Elrharchi S, Dehbi H, Kabine M, Nadifi S, Charoute H, Barakat A.
    Curr Res Transl Med; 2016 Aug; 64(2):61-4. PubMed ID: 27316387
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  • 13. Autosomal dominant hearing loss resulting from p.R75Q mutation in the GJB2 gene: nonsyndromic presentation in a South Indian family.
    Pavithra A, Selvakumari M, Nityaa V, Sharanya N, Ramakrishnan R, Narasimhan M, Srisailapathy CR.
    Ann Hum Genet; 2015 Jan; 79(1):76-82. PubMed ID: 25393658
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  • 15. Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness.
    Green GE, Scott DA, McDonald JM, Woodworth GG, Sheffield VC, Smith RJ.
    JAMA; 1999 Jun 16; 281(23):2211-6. PubMed ID: 10376574
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  • 17. G59S mutation in the GJB2 gene in a Chinese family with classic Vohwinkel syndrome.
    Xie MX, Yang WP, Luo HJ, Ismail F, Hao YY, Yang JQ.
    J Dermatol; 2019 Feb 16; 46(2):154-157. PubMed ID: 30565282
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  • 20. Three novel GJB2 (connexin 26) variants associated with autosomal dominant syndromic and nonsyndromic hearing loss.
    DeMille D, Carlston CM, Tam OH, Palumbos JC, Stalker HJ, Mao R, Zori RT, Viskochil DH, Park AH, Carey JC.
    Am J Med Genet A; 2018 Apr 16; 176(4):945-950. PubMed ID: 29575629
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