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Journal Abstract Search

248 related items for PubMed ID: 18412859

  • 1. Connexin 26 mutation in keratitis-ichthyosis-deafness (KID) syndrome in mother and daughter with combined conductive and sensorineural hearing loss.
    Kelly B, Lozano A, Altenberg G, Makishima T.
    Int J Dermatol; 2008 May; 47(5):443-7. PubMed ID: 18412859
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  • 2. 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; 70(5):1341-8. PubMed ID: 11912510
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  • 3. Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome.
    Yotsumoto S, Hashiguchi T, Chen X, Ohtake N, Tomitaka A, Akamatsu H, Matsunaga K, Shiraishi S, Miura H, Adachi J, Kanzaki T.
    Br J Dermatol; 2003 Apr; 148(4):649-53. PubMed ID: 12752120
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  • 4. A novel dominant and a de novo mutation in the GJB2 gene (connexin-26) cause keratitis-ichthyosis-deafness syndrome: implication for cochlear implantation.
    Arndt S, Aschendorff A, Schild C, Beck R, Maier W, Laszig R, Birkenhäger R.
    Otol Neurotol; 2010 Feb; 31(2):210-5. PubMed ID: 20101161
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  • 5. 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
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  • 6. Mutation of GJB2 in a Chinese patient with keratitis-ichthyosis-deafness syndrome and brain malformation.
    Zhang XB, Wei SC, Li CX, Xu X, He YQ, Luo Q, Li J, Wang YF.
    Clin Exp Dermatol; 2009 Apr; 34(3):309-13. PubMed ID: 19175781
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  • 7. A rare connexin 26 mutation in a patient with a forme fruste of keratitis-ichthyosis-deafness (KID) syndrome.
    Neoh CY, Chen H, Ng SK, Lane EB, Common JE.
    Int J Dermatol; 2009 Oct; 48(10):1078-81. PubMed ID: 19785089
    [Abstract] [Full Text] [Related]

  • 8. A novel autosomal recessive GJB2-associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss, and punctate palmoplantar keratoderma.
    Youssefian L, Vahidnezhad H, Saeidian AH, Mahmoudi H, Karamzadeh R, Kariminejad A, Huang J, Li L, Jannace TF, Fortina P, Zeinali S, White TW, Uitto J.
    Hum Mutat; 2019 Feb; 40(2):217-229. PubMed ID: 30431684
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  • 9. Cochlear implantation and connexin expression in the child with keratitis-ichthyosis-deafness syndrome.
    Choung YH, Shin YR, Kim HJ, Kim YC, Ahn JH, Choi SJ, Jeong SY, Park K.
    Int J Pediatr Otorhinolaryngol; 2008 Jun; 72(6):911-5. PubMed ID: 18423892
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  • 11. Cochleosaccular dysplasia associated with a connexin 26 mutation in keratitis-ichthyosis-deafness syndrome.
    Griffith AJ, Yang Y, Pryor SP, Park HJ, Jabs EW, Nadol JB, Russell LJ, Wasserman DI, Richard G, Adams JC, Merchant SN.
    Laryngoscope; 2006 Aug; 116(8):1404-8. PubMed ID: 16885744
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  • 12. 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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  • 14. Keratitis-ichthyosis-deafness syndrome: disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patients.
    Mazereeuw-Hautier J, Bitoun E, Chevrant-Breton J, Man SY, Bodemer C, Prins C, Antille C, Saurat JH, Atherton D, Harper JI, Kelsell DP, Hovnanian A.
    Br J Dermatol; 2007 May; 156(5):1015-9. PubMed ID: 17381453
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  • 18. Heterozygous p.Asp50Asn mutation in the GJB2 gene in two Cameroonian patients with keratitis-ichthyosis-deafness (KID) syndrome.
    Wonkam A, Noubiap JJ, Bosch J, Dandara C, Toure GB.
    BMC Med Genet; 2013 Aug 07; 14():81. PubMed ID: 23924173
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  • 19. 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 07; 36(2):142-8. PubMed ID: 20846357
    [Abstract] [Full Text] [Related]

  • 20. Connexin 26 (GJB2) mutations in two Swedish patients with atypical Vohwinkel (mutilating keratoderma plus deafness) and KID syndrome both extensively treated with acitretin.
    Bondeson ML, Nyström AM, Gunnarsson U, Vahlquist A.
    Acta Derm Venereol; 2006 Mar 07; 86(6):503-8. PubMed ID: 17106596
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