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PUBMED FOR HANDHELDS

Journal Abstract Search

113 related items for PubMed ID: 20031451

  • 21.
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  • 22. Genetic heterogeneity of KID syndrome: identification of a Cx30 gene (GJB6) mutation in a patient with KID syndrome and congenital atrichia.
    Jan AY, Amin S, Ratajczak P, Richard G, Sybert VP.
    J Invest Dermatol; 2004 May; 122(5):1108-13. PubMed ID: 15140211
    [Abstract] [Full Text] [Related]

  • 23. 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 May; 64(2):61-4. PubMed ID: 27316387
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  • 24. Sensorineural hearing loss, striate palmoplantar hyperkeratosis, and knuckle pads in a patient with a novel connexin 26 (GJB2) mutation.
    Leonard NJ, Krol AL, Bleoo S, Somerville MJ.
    J Med Genet; 2005 Jan; 42(1):e2. PubMed ID: 15635064
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  • 25. G59A mutation in the GJB2 gene in a Taiwanese family with knuckle pads, palmoplantar keratoderma and sensorineural hearing loss.
    Chen LH, Lin HC, Sheu HM, Chao SC.
    Clin Exp Dermatol; 2012 Apr; 37(3):300-1. PubMed ID: 22007731
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  • 26. Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma.
    Richard G, White TW, Smith LE, Bailey RA, Compton JG, Paul DL, Bale SJ.
    Hum Genet; 1998 Oct; 103(4):393-9. PubMed ID: 9856479
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  • 27. Keratoderma-Deafness-Mucocutaneous Syndrome Associated with Phe142Leu in the GJB2 Gene.
    Guerra L, Bergamo F, D'Apice MR, Angelucci F, di Girolamo S, Camerota L, Monetta R, Annessi G, Castiglia D, Novelli G, Paradisi M, Brancati F.
    Acta Derm Venereol; 2019 Nov 01; 99(12):1192-1194. PubMed ID: 31408183
    [No Abstract] [Full Text] [Related]

  • 28. Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome.
    Richard G, Rouan F, Willoughby CE, Brown N, Chung P, Ryynänen M, Jabs EW, Bale SJ, DiGiovanna JJ, Uitto J, Russell L.
    Am J Hum Genet; 2002 May 01; 70(5):1341-8. PubMed ID: 11912510
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  • 29.
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  • 30. 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 01; 47(10):e352-e354. PubMed ID: 32705719
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  • 33. A novel missense mutation in the Connexin 26 gene associated with autosomal recessive nonsyndromic sensorineural hearing loss in a consanguineous Tunisian family.
    Alemanno MS, Cama E, Santarelli R, Carella M, Zelante L, Toffolatti L, Palladino T, Melchionda S, Arslan E.
    Int J Pediatr Otorhinolaryngol; 2009 Jan 01; 73(1):127-31. PubMed ID: 18990456
    [Abstract] [Full Text] [Related]

  • 34. Mutation analysis of the GJB2 (connexin 26) gene in Egypt.
    Snoeckx RL, Hassan DM, Kamal NM, Van Den Bogaert K, Van Camp G.
    Hum Mutat; 2005 Jul 01; 26(1):60-1. PubMed ID: 15954104
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  • 37. A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis-ichthyosis-deafness (KID) syndrome.
    Koppelhus U, Tranebjaerg L, Esberg G, Ramsing M, Lodahl M, Rendtorff ND, Olesen HV, Sommerlund M.
    Clin Exp Dermatol; 2011 Mar 01; 36(2):142-8. PubMed ID: 20846357
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  • 38.
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  • 39. Dandy-Walker malformation in patients with KID syndrome associated with a heterozygote mutation (p.Asp50Asn) in the GJB2 gene encoding connexin 26.
    Todt I, Mazereeuw-Hautier J, Binder B, Willems PJ.
    Clin Genet; 2009 Oct 01; 76(4):404-8. PubMed ID: 19793313
    [Abstract] [Full Text] [Related]

  • 40.
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