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

120 related items for PubMed ID: 35398937

  • 1. 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; 36(9):e693-e695. PubMed ID: 35398937
    [No Abstract] [Full Text] [Related]

  • 2. A novel missense mutation in the second extracellular domain of GJB2, p.Ser183Phe, causes a syndrome of focal palmoplantar keratoderma with deafness.
    de Zwart-Storm EA, van Geel M, van Neer PA, Steijlen PM, Martin PE, van Steensel MA.
    Am J Pathol; 2008 Oct; 173(4):1113-9. PubMed ID: 18787097
    [Abstract] [Full Text] [Related]

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

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

  • 5. 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; 78(9):1461-6. PubMed ID: 24975403
    [Abstract] [Full Text] [Related]

  • 6. 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]

  • 7.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 8. 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]

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

  • 10. 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 15; 40(7):579-80. PubMed ID: 23594229
    [No Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. 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 01; 37(1):50-1. PubMed ID: 10633135
    [Abstract] [Full Text] [Related]

  • 13.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 14. Autosomal dominant palmoplantar hyperkeratosis and sensorineural deafness in three generations.
    Sharland M, Bleach NR, Goberdhan PD, Patton MA.
    J Med Genet; 1992 Jan 01; 29(1):50-2. PubMed ID: 1532426
    [Abstract] [Full Text] [Related]

  • 15.
    ; . PubMed ID:
    [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 Jan 01; 27(2):187-91. PubMed ID: 29485809
    [Abstract] [Full Text] [Related]

  • 17. 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 01; 46(2):154-157. PubMed ID: 30565282
    [Abstract] [Full Text] [Related]

  • 18. 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 01; 40(2):217-229. PubMed ID: 30431684
    [Abstract] [Full Text] [Related]

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

  • 20. A novel GJB2 mutation p.Asn54His in a patient with palmoplantar keratoderma, sensorineural hearing loss and knuckle pads.
    Akiyama M, Sakai K, Arita K, Nomura Y, Ito K, Kodama K, McMillan JR, Kobayashi K, Sawamura D, Shimizu H.
    J Invest Dermatol; 2007 Jun 01; 127(6):1540-3. PubMed ID: 17255958
    [No Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 6.