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Journal Abstract Search

168 related items for PubMed ID: 11990254

  • 1. A keratin 10 gene mutation (Arg156Cys) in a Japanese patient with bullous congenital ichthyosiform erythroderma.
    Saeki H, Hattori N, Mitsui H, Adachi M, Imakado S, Ishibashi Y, Tamaki K.
    J Dermatol; 2002 Mar; 29(3):168-71. PubMed ID: 11990254
    [Abstract] [Full Text] [Related]

  • 2. Phenotypic heterogeneity in bullous congenital ichthyosiform erythroderma: possible somatic mosaicism for keratin gene mutation in the mildly affected mother of the proband.
    Nomura K, Umeki K, Hatayama I, Kuronuma T.
    Arch Dermatol; 2001 Sep; 137(9):1192-5. PubMed ID: 11559215
    [Abstract] [Full Text] [Related]

  • 3. A case of bullous congenital ichthyosiform erythroderma (BCIE) caused by a mutation in the 1A helix initiation motif of keratin 1.
    Uezato H, Yamamoto Y, Kuwae C, Nonaka K, Oshiro M, Kariya K, Nonaka S.
    J Dermatol; 2005 Oct; 32(10):801-8. PubMed ID: 16361731
    [Abstract] [Full Text] [Related]

  • 4. A keratin K10 gene mutation in a Japanese patient with epidermolytic hyperkeratosis.
    Nomura K, Meng X, Umeki K, Tamai K, Sawamura D, Hashimoto I, Kikuchi T.
    Jpn J Hum Genet; 1997 Mar; 42(1):217-23. PubMed ID: 9184002
    [Abstract] [Full Text] [Related]

  • 5. Recurrent R156H mutation of KRT10 in a Japanese family with bullous congenital ichthyosiform erythroderma.
    Mayuzumi N, Shigihara T, Ikeda S, Ogawa H.
    J Eur Acad Dermatol Venereol; 2000 Jul; 14(4):304-6. PubMed ID: 11204523
    [Abstract] [Full Text] [Related]

  • 6. A keratin 9 Gene mutation (Asn160Ser) in a Japanese patient with epidermolytic palmoplantar keratoderma.
    Tsunemi Y, Hattori N, Saeki H, Adachi M, Komine M, Nakagawa H, Tamaki K.
    J Dermatol; 2002 Dec; 29(12):768-72. PubMed ID: 12532041
    [Abstract] [Full Text] [Related]

  • 7. Disruption of the suprabasal keratin network by mutation M150T in the helix initiation motif of keratin 10 does not affect cornified cell envelope formation in human epidermis.
    Akiyama M, Takizawa Y, Sawamura D, Matsuo I, Shimizu H.
    Exp Dermatol; 2003 Oct; 12(5):638-45. PubMed ID: 14705805
    [Abstract] [Full Text] [Related]

  • 8. Cyclic ichthyosis with epidermolytic hyperkeratosis: A phenotype conferred by mutations in the 2B domain of keratin K1.
    Sybert VP, Francis JS, Corden LD, Smith LT, Weaver M, Stephens K, McLean WH.
    Am J Hum Genet; 1999 Mar; 64(3):732-8. PubMed ID: 10053007
    [Abstract] [Full Text] [Related]

  • 9. Bullous congenital ichthyosiform erythroderma of Brocq.
    Kucharekova M, Mosterd K, Winnepenninckx V, van Geel M, Sommer A, van Steensel MA.
    Int J Dermatol; 2007 Nov; 46 Suppl 3():36-8. PubMed ID: 17973888
    [Abstract] [Full Text] [Related]

  • 10. Mild recessive bullous congenital ichthyosiform erythroderma due to a previously unidentified homozygous keratin 10 nonsense mutation.
    Tsubota A, Akiyama M, Kanitakis J, Sakai K, Nomura T, Claudy A, Shimizu H.
    J Invest Dermatol; 2008 Jul; 128(7):1648-52. PubMed ID: 18219278
    [Abstract] [Full Text] [Related]

  • 11. R156C mutation of keratin 10 causes mild form of epidermolytic hyperkeratosis.
    Haruna K, Suga Y, Mizuno Y, Hasegawa T, Kourou K, Matsuba S, Muramatsu S, Ikeda S.
    J Dermatol; 2007 Aug; 34(8):545-8. PubMed ID: 17683385
    [Abstract] [Full Text] [Related]

  • 12. A novel dinucleotide mutation in keratin 10 in the annular epidermolytic ichthyosis variant of bullous congenital ichthyosiform erythroderma.
    Joh GY, Traupe H, Metze D, Nashan D, Huber M, Hohl D, Longley MA, Rothnagel JA, Roop DR.
    J Invest Dermatol; 1997 Mar; 108(3):357-61. PubMed ID: 9036939
    [Abstract] [Full Text] [Related]

  • 13. Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE).
    McLean WH, Eady RA, Dopping-Hepenstal PJ, McMillan JR, Leigh IM, Navsaria HA, Higgins C, Harper JI, Paige DG, Morley SM.
    J Invest Dermatol; 1994 Jan; 102(1):24-30. PubMed ID: 7507152
    [Abstract] [Full Text] [Related]

  • 14. Prenatal diagnosis for keratin mutations to exclude transmission of epidermolytic hyperkeratosis.
    Rothnagel JA, Lin MT, Longley MA, Holder RA, Hazen PG, Levy ML, Roop DR.
    Prenat Diagn; 1998 Aug; 18(8):826-30. PubMed ID: 9742571
    [Abstract] [Full Text] [Related]

  • 15. A novel helix termination mutation in keratin 10 in annular epidermolytic ichthyosis, a variant of bullous congenital ichthyosiform erythroderma.
    Suga Y, Duncan KO, Heald PW, Roop DR.
    J Invest Dermatol; 1998 Dec; 111(6):1220-3. PubMed ID: 9856845
    [Abstract] [Full Text] [Related]

  • 16. [Mutation analysis of KRT10 gene in a patient with bullous congenital ichthyosiform erythroderma].
    Zhang SD, Liu JJ, Tian W, Zhao ZJ, Zhao JJ.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2011 Aug; 28(4):421-3. PubMed ID: 21811984
    [Abstract] [Full Text] [Related]

  • 17. [Bullous congenital ichthyosiform erythroderma of Brocq; 2 patients with different phenotype and genotype].
    Lavrijsen AP, Bergman W, Steijlen PM.
    Ned Tijdschr Geneeskd; 2001 Aug 04; 145(31):1527-8. PubMed ID: 11569466
    [No Abstract] [Full Text] [Related]

  • 18. A mutational hot spot in keratin 10 (KRT 10) in patients with epidermolytic hyperkeratosis.
    Rothnagel JA, Fisher MP, Axtell SM, Pittelkow MR, Anton-Lamprecht I, Huber M, Hohl D, Roop DR.
    Hum Mol Genet; 1993 Dec 04; 2(12):2147-50. PubMed ID: 7509230
    [Abstract] [Full Text] [Related]

  • 19. An atypical form of bullous congenital ichthyosiform erythroderma is caused by a mutation in the L12 linker region of keratin 1.
    Kremer H, Lavrijsen AP, McLean WH, Lane EB, Melchers D, Ruiter DJ, Mariman EC, Steijlen PM.
    J Invest Dermatol; 1998 Dec 04; 111(6):1224-6. PubMed ID: 9856846
    [Abstract] [Full Text] [Related]

  • 20. DNA-based prenatal exclusion of bullous congenital ichthyosiform erythroderma at the early stage, 10 to 11 weeks' of pregnancy, in two consequent siblings.
    Tsuji-Abe Y, Akiyama M, Nakamura H, Takizawa Y, Sawamura D, Matsunaga K, Suzumori K, Shimizu H.
    J Am Acad Dermatol; 2004 Dec 04; 51(6):1008-11. PubMed ID: 15583602
    [Abstract] [Full Text] [Related]

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