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Journal Abstract Search

129 related items for PubMed ID: 15635064

  • 21. 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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  • 23. A case of palmoplantar lichen planus in a patient with congenital sensorineural deafness.
    Ogawa A, Shimizu K, Yoshizaki A, Sato S, Kanda Y, Kumagami H, Takahashi H, Usami S.
    Clin Exp Dermatol; 2013 Jan; 38(1):30-2. PubMed ID: 22924538
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  • 24. Functional analysis of R75Q mutation in the gene coding for Connexin 26 identified in a family with nonsyndromic hearing loss.
    Piazza V, Beltramello M, Menniti M, Colao E, Malatesta P, Argento R, Chiarella G, Gallo LV, Catalano M, Perrotti N, Mammano F, Cassandro E.
    Clin Genet; 2005 Aug; 68(2):161-6. PubMed ID: 15996214
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  • 25. A novel missense mutation in GJB2, p.Tyr65His, causes severe Vohwinkel syndrome.
    de Zwart-Storm EA, van Geel M, Veysey E, Burge S, Cooper S, Steijlen PM, Martin PE, van Steensel MA.
    Br J Dermatol; 2011 Jan; 164(1):197-9. PubMed ID: 20854437
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  • 26. G130V de novo mutation in an Iranian pedigree with nonsyndromic hearing loss without palmoplantar keratoderma.
    Babanejad M, Zarandy MM, Nikzat N, Bazazzadegan N, Arzhangi S, Mohseni M, Kahrizi K, Najmabadi H.
    Int J Pediatr Otorhinolaryngol; 2019 Nov; 126():109607. PubMed ID: 31419744
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  • 27. The GJB2 mutation R75Q can cause nonsyndromic hearing loss DFNA3 or hereditary palmoplantar keratoderma with deafness.
    Feldmann D, Denoyelle F, Blons H, Lyonnet S, Loundon N, Rouillon I, Hadj-Rabia S, Petit C, Couderc R, Garabédian EN, Marlin S.
    Am J Med Genet A; 2005 Aug 30; 137(2):225-7. PubMed ID: 16059934
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  • 28. Connecting with connexins.
    Williams P, Memon A, Sinha T, Fryer A.
    Australas J Dermatol; 2013 Nov 30; 54(4):287-9. PubMed ID: 23808595
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  • 30. 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 30; 152A(7):1798-802. PubMed ID: 20583176
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  • 31. Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family.
    Kelsell DP, Wilgoss AL, Richard G, Stevens HP, Munro CS, Leigh IM.
    Eur J Hum Genet; 2000 Feb 30; 8(2):141-4. PubMed ID: 10757647
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  • 32. Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family.
    Kelsell DP, Wilgoss AL, Richard G, Stevens HP, Munro CS, Leigh IM.
    Eur J Hum Genet; 2000 Jun 30; 8(6):469-72. PubMed ID: 10888284
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  • 33. Classical Vohwinkel syndrome with heterozygous p.Asp66His mutation in GJB2 gene: Second Asian case.
    Ikeda K, Takeichi T, Ito Y, Kawakami Y, Nakagawa Y, Naito S, Yamasaki O, Akiyama M, Morizane S.
    J Dermatol; 2020 Oct 30; 47(10):e352-e354. PubMed ID: 32705719
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  • 34. Palmoplantar keratoderma with deafness due to GJB2 mutation can develop ichthyosiform symptoms: a case report.
    Kimura A, Miyauchi T, Peh JT, Yanagi T, Hasegawa S, Morita S, Ujiie H.
    J Eur Acad Dermatol Venereol; 2022 Sep 30; 36(9):e693-e695. PubMed ID: 35398937
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  • 37. Vohwinkel Syndrome secondary to missense mutation D66H in GJB2 gene (connexin 26) can include epileptic manifestations.
    Serrano Castro PJ, Naranjo Fernandez C, Quiroga Subirana P, Payan Ortiz M.
    Seizure; 2010 Mar 30; 19(2):129-31. PubMed ID: 20031451
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  • 38. A novel missense mutation in the Connexin 26 gene associated with autosomal recessive sensorineural deafness.
    Leshinsky-Silver E, Berman Z, Vinkler C, Yannov-Sharav M, Lev D.
    Hear Res; 2005 Apr 30; 202(1-2):258-61. PubMed ID: 15811717
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  • 40. Case of palmoplantar keratoderma with sensorineural deafness and mental retardation that may be another variant of syndromic palmoplantar keratoderma.
    Utsumi D, Hanashiro F, Miyagi T, Yamamoto Y, Uezato H, Takahashi K.
    J Dermatol; 2013 Jul 30; 40(7):579-80. PubMed ID: 23594229
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