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Journal Abstract Search

137 related items for PubMed ID: 22421650

  • 1. A family of Bart-Pumphrey syndrome.
    Gönül M, Gül Ü, Hizli P, Hizli Ö.
    Indian J Dermatol Venereol Leprol; 2012; 78(2):178-81. PubMed ID: 22421650
    [Abstract] [Full Text] [Related]

  • 2. Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2.
    Richard G, Brown N, Ishida-Yamamoto A, Krol A.
    J Invest Dermatol; 2004 Nov; 123(5):856-63. PubMed ID: 15482471
    [Abstract] [Full Text] [Related]

  • 3. Familial leuconychia, knuckle pads, hearing loss, and palmoplantar hyperkeratosis: an additional family with Bart-Pumphrey syndrome.
    Ramer JC, Vasily DB, Ladda RL.
    J Med Genet; 1994 Jan; 31(1):68-71. PubMed ID: 8151643
    [Abstract] [Full Text] [Related]

  • 4. 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; 37(1):50-1. PubMed ID: 10633135
    [Abstract] [Full Text] [Related]

  • 5. 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; 46(2):154-157. PubMed ID: 30565282
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  • 7. 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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  • 9. 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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  • 12. A family with palmoplantar epidermolytic hyperkeratosis.
    Berth-Jones J, Hutchinson PE.
    Clin Exp Dermatol; 1989 Jul; 14(4):313-6. PubMed ID: 2531643
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  • 13. D66H mutation in GJB2 gene in a Chinese family with classical Vohwinkel syndrome.
    Qiu Y, Wang Z, Chen N, Song Y, Wang Z, Zhang L.
    Indian J Dermatol Venereol Leprol; 2012 Jul; 78(5):640-2. PubMed ID: 22960825
    [No Abstract] [Full Text] [Related]

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  • 15. Mutations in AAGAB underlie autosomal dominant punctate palmoplantar keratoderma.
    Dinani N, Ali M, Liu L, McGrath J, Mellerio J.
    Clin Exp Dermatol; 2017 Apr; 42(3):316-319. PubMed ID: 28239884
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. G59S mutation in the GJB2 (connexin 26) gene in a patient with Bart-Pumphrey syndrome.
    Alexandrino F, Sartorato EL, Marques-de-Faria AP, Steiner CE.
    Am J Med Genet A; 2005 Jul 30; 136(3):282-4. PubMed ID: 15952212
    [No Abstract] [Full Text] [Related]

  • 18. Vohwinkel syndrome: ichthyosiform variant in a family.
    Reinehr CPH, Peruzzo J, Cestari T.
    An Bras Dermatol; 2018 Jul 30; 93(5):723-725. PubMed ID: 30156625
    [Abstract] [Full Text] [Related]

  • 19. The GJB2 mutation R75Q can cause nonsyndromic hearing loss DFNA3 or hereditary palmoplantar keratoderma with deafness.
    Feldmann D, Denoyelle F, Blons H, Lyonnet S, Loundon N, Rouillon I, Hadj-Rabia S, Petit C, Couderc R, Garabédian EN, Marlin S.
    Am J Med Genet A; 2005 Aug 30; 137(2):225-7. PubMed ID: 16059934
    [No Abstract] [Full Text] [Related]

  • 20. Palmoplantar keratoderma--Mal de Meleda syndrome.
    Rajashekhar N, Moideen R.
    Int J Dermatol; 1997 Nov 30; 36(11):854-6. PubMed ID: 9427080
    [No Abstract] [Full Text] [Related]

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