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Journal Abstract Search

202 related items for PubMed ID: 29267478

  • 1. Unique autosomal recessive variant of palmoplantar keratoderma associated with hearing loss not caused by known mutations.
    Hegazi MA, Manou S, Sakr H, Camp GV.
    An Bras Dermatol; 2017; 92(5 Suppl 1):154-158. PubMed ID: 29267478
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. A7445G mtDNA mutation present in a Portuguese family exhibiting hereditary deafness and palmoplantar keratoderma.
    Caria H, Matos T, Oliveira-Soares R, Santos AR, Galhardo I, Soares-Almeida L, Dias O, Andrea M, Correia C, Fialho G.
    J Eur Acad Dermatol Venereol; 2005 Jul; 19(4):455-8. PubMed ID: 15987292
    [Abstract] [Full Text] [Related]

  • 5. Inherited palmoplantar keratoderma and sensorineural deafness associated with A7445G point mutation in the mitochondrial genome.
    Martin L, Toutain A, Guillen C, Haftek M, Machet MC, Toledano C, Arbeille B, Lorette G, Rötig A, Vaillant L.
    Br J Dermatol; 2000 Oct; 143(4):876-83. PubMed ID: 11069477
    [Abstract] [Full Text] [Related]

  • 6. Mitochondrial A7445G mutation in two pedigrees with palmoplantar keratoderma and deafness.
    Sevior KB, Hatamochi A, Stewart IA, Bykhovskaya Y, Allen-Powell DR, Fischel-Ghodsian N, Maw MA.
    Am J Med Genet; 1998 Jan 13; 75(2):179-85. PubMed ID: 9450881
    [Abstract] [Full Text] [Related]

  • 7. New evidence for the correlation of the p.G130V mutation in the GJB2 gene and syndromic hearing loss with palmoplantar keratoderma.
    Iossa S, Chinetti V, Auletta G, Laria C, De Luca M, Rienzo M, Giannini P, Delfino M, Ciccodicola A, Marciano E, Franzé A.
    Am J Med Genet A; 2009 Feb 15; 149A(4):685-8. PubMed ID: 18688874
    [Abstract] [Full Text] [Related]

  • 8. 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 15; 152A(7):1798-802. PubMed ID: 20583176
    [Abstract] [Full Text] [Related]

  • 9. 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 15; 25(10):1539-42. PubMed ID: 20890442
    [Abstract] [Full Text] [Related]

  • 10. R75Q de novo dominant mutation of GJB2 in a Chinese family with hearing loss and palmoplantar keratoderma.
    Jiang SJ, Di ZH, Huang D, Zhang JB, Zhang YY, Li SQ, He R.
    Int J Pediatr Otorhinolaryngol; 2014 Sep 15; 78(9):1461-6. PubMed ID: 24975403
    [Abstract] [Full Text] [Related]

  • 11. A new variant of Vohwinkel syndrome: a case report.
    Seirafi H, Khezri S, Morowati S, Kamyabhesari K, Mirzaeipour M, Khezri F.
    Dermatol Online J; 2011 Mar 15; 17(3):3. PubMed ID: 21426869
    [Abstract] [Full Text] [Related]

  • 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 Mar 15; 64(2):61-4. PubMed ID: 27316387
    [Abstract] [Full Text] [Related]

  • 13. A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350).
    Heathcote K, Syrris P, Carter ND, Patton MA.
    J Med Genet; 2000 Jan 15; 37(1):50-1. PubMed ID: 10633135
    [Abstract] [Full Text] [Related]

  • 14. 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 15; 126():109607. PubMed ID: 31419744
    [Abstract] [Full Text] [Related]

  • 15. 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]

  • 16. A Deletion Mutation of the Connexin 26 (Gjb2) Gene in a Turkish Patient with Vohwinkel Syndrome .
    Ozturk S, Can I, Eser B, Yazici H.
    Genet Couns; 2016 Nov 01; 27(2):187-91. PubMed ID: 29485809
    [Abstract] [Full Text] [Related]

  • 17. Diagnosis and Management of Inherited Palmoplantar Keratodermas.
    Thomas BR, O'Toole EA.
    Acta Derm Venereol; 2020 Mar 25; 100(7):adv00094. PubMed ID: 32147745
    [Abstract] [Full Text] [Related]

  • 18. Connecting with connexins.
    Williams P, Memon A, Sinha T, Fryer A.
    Australas J Dermatol; 2013 Nov 25; 54(4):287-9. PubMed ID: 23808595
    [Abstract] [Full Text] [Related]

  • 19. Loss-of-Function Variants in SERPINA12 Underlie Autosomal Recessive Palmoplantar Keratoderma.
    Mohamad J, Sarig O, Malki L, Rabinowitz T, Assaf S, Malovitski K, Shkury E, Mayer T, Vodo D, Peled A, Daniely D, Pavlovsky M, Shomron N, Samuelov L, Sprecher E.
    J Invest Dermatol; 2020 Nov 25; 140(11):2178-2187. PubMed ID: 32247861
    [Abstract] [Full Text] [Related]

  • 20. Vohwinkel syndrome with mental retardation.
    Mercy P, Singh A, Ghorpade AK, Das MN, Upadhyay A, Keswani N.
    Indian J Dermatol Venereol Leprol; 2013 Nov 25; 79(5):725. PubMed ID: 23974601
    [No Abstract] [Full Text] [Related]

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