These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

212 related items for PubMed ID: 17106596

  • 1. 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; 86(6):503-8. PubMed ID: 17106596
    [Abstract] [Full Text] [Related]

  • 2. 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; 36(2):142-8. PubMed ID: 20846357
    [Abstract] [Full Text] [Related]

  • 3.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 4.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 5. Extending the phenotypic spectrum of keratitis-ichthyosis-deafness syndrome: report of a patient with GJB2 (G12R) Connexin 26 mutation and unusual clinical findings.
    Lazic T, Li Q, Frank M, Uitto J, Zhou LH.
    Pediatr Dermatol; 2012 Mar; 29(3):349-57. PubMed ID: 22011219
    [Abstract] [Full Text] [Related]

  • 6. 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; 76(4):404-8. PubMed ID: 19793313
    [Abstract] [Full Text] [Related]

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 9.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 10. 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
    [Abstract] [Full Text] [Related]

  • 11. A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45E.
    Jonard L, Feldmann D, Parsy C, Freitag S, Sinico M, Koval C, Grati M, Couderc R, Denoyelle F, Bodemer C, Marlin S, Hadj-Rabia S.
    Eur J Med Genet; 2008 Feb; 51(1):35-43. PubMed ID: 18024254
    [Abstract] [Full Text] [Related]

  • 12. 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]

  • 13. Treatment of keratitis-ichthyosis- deafness (KID) syndrome in children: a case report and review of the literature.
    Patel V, Sun G, Dickman M, Khuu P, Teng JM.
    Dermatol Ther; 2015 Oct; 28(2):89-93. PubMed ID: 25546246
    [Abstract] [Full Text] [Related]

  • 14.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 15. 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
    [Abstract] [Full Text] [Related]

  • 16. A report of GJB2 (N14K) Connexin 26 mutation in two patients--a new subtype of KID syndrome?
    Lazic T, Horii KA, Richard G, Wasserman DI, Antaya RJ.
    Pediatr Dermatol; 2008 May; 25(5):535-40. PubMed ID: 18950394
    [Abstract] [Full Text] [Related]

  • 17. Connexin-26 mutations in deafness and skin disease.
    Lee JR, White TW.
    Expert Rev Mol Med; 2009 Nov 19; 11():e35. PubMed ID: 19939300
    [Abstract] [Full Text] [Related]

  • 18. 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 19; 116(8):1404-8. PubMed ID: 16885744
    [Abstract] [Full Text] [Related]

  • 19.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 20. 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 19; 46(2):154-157. PubMed ID: 30565282
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 11.