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Journal Abstract Search

116 related items for PubMed ID: 27400994

  • 1. Clinical and molecular investigation of Buschke-Fischer-Brauer in consanguineous Tunisian families.
    Charfeddine C, Ktaifi C, Laroussi N, Hammami H, Jmel H, Landoulsi Z, Badri T, Benmously R, Bchetnia M, Boubaker MS, Fenniche S, Abdelhak S, Mokni M.
    J Eur Acad Dermatol Venereol; 2016 Dec; 30(12):2122-2130. PubMed ID: 27400994
    [Abstract] [Full Text] [Related]

  • 2. Eight Novel Mutations Confirm the Role of AAGAB in Punctate Palmoplantar Keratoderma Type 1 (Buschke-Fischer-Brauer) and Show Broad Phenotypic Variability.
    Giehl KA, Herzinger T, Wolff H, Sárdy M, von Braunmühl T, Dekeuleneer V, Sznajer Y, Tennstedt D, Boes P, Rapprich S, Wagner N, Betz RC, Braun-Falco M, Strom T, Ruzicka T, Eckstein GN.
    Acta Derm Venereol; 2016 May; 96(4):468-72. PubMed ID: 26608363
    [Abstract] [Full Text] [Related]

  • 3. A novel AAGAB mutation in a Peruvian family with punctate palmoplantar keratoderma.
    Gómez-García AC, Salas-Alanís JC, Bar-Fernandez N, Mendoza-Meza R, Díaz-Montes SM, Fajardo-Ramírez OR.
    Acta Dermatovenerol Alp Pannonica Adriat; 2021 Mar; 30(1):47-48. PubMed ID: 33765759
    [Abstract] [Full Text] [Related]

  • 4. Loss-of-function mutation in AAGAB in Chinese families with punctuate palmoplantar keratoderma.
    Li M, Yang L, Shi H, Guo B, Dai X, Yao Z, Zhang G.
    Br J Dermatol; 2013 Jul; 169(1):168-71. PubMed ID: 23448244
    [Abstract] [Full Text] [Related]

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  • 6. AAGAB Mutations in 18 Canadian Families With Punctate Palmoplantar Keratoderma and a Possible Link to Cancer.
    Elhaji Y, Hedlin C, Nath A, Price EL, Gallant C, Northgrave S, Hull PR.
    J Cutan Med Surg; 2020 Jul; 24(1):28-32. PubMed ID: 31526046
    [Abstract] [Full Text] [Related]

  • 7. A novel splice-site mutation in the AAGAB gene segregates with hereditary punctate palmoplantar keratoderma and congenital dysplasia of the hip in a large family.
    Eytan O, Sarig O, Israeli S, Mevorah B, Basel-Vanagaite L, Sprecher E.
    Clin Exp Dermatol; 2014 Mar; 39(2):182-6. PubMed ID: 24289292
    [Abstract] [Full Text] [Related]

  • 8. 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]

  • 9. [Clinical and genetic characteristics of Buschke-Fischer-Brauer's disease in a Tunisian family].
    El Amri I, Mamai O, Ghariani N, Denguezli M, Sriha B, Adala L, Saad A, Gribaa M, Nouira R.
    Ann Dermatol Venereol; 2010 Apr; 137(4):269-75. PubMed ID: 20417359
    [Abstract] [Full Text] [Related]

  • 10. A novel missense mutation in the gene encoding SLURP-1 in patients with Mal de Meleda from northern Tunisia.
    Charfeddine C, Mokni M, Ben Mousli R, Elkares R, Bouchlaka C, Boubaker S, Ghedamsi S, Baccouche D, Ben Osman A, Dellagi K, Abdelhak S.
    Br J Dermatol; 2003 Dec; 149(6):1108-15. PubMed ID: 14674887
    [Abstract] [Full Text] [Related]

  • 11. Only plantar lesion of punctate palmoplantar keratoderma with a novel missense mutation in the AAGAB gene: Two Japanese familial case reports and review of reported mutations.
    Hasegawa A, Hayashi R, Shimomura Y, Hirashima M, Abe R.
    J Dermatol; 2021 Dec; 48(12):1926-1930. PubMed ID: 34535911
    [Abstract] [Full Text] [Related]

  • 12. Punctate Palmoplantar Keratoderma: A Case Report.
    Knowles A, Adams M, Glass DA.
    Cureus; 2023 Jan; 15(1):e33769. PubMed ID: 36793812
    [Abstract] [Full Text] [Related]

  • 13. 47 patients in 14 families with the rare genodermatosis keratosis punctata palmoplantaris Buschke-Fischer-Brauer.
    Emmert S, Küster W, Hennies HC, Zutt M, Haenssle H, Kretschmer L, Neumann C.
    Eur J Dermatol; 2003 Jan; 13(1):16-20. PubMed ID: 12609775
    [Abstract] [Full Text] [Related]

  • 14. A new family with the rare genodermatosis keratosis punctata palmoplantaris Buschke-Fischer-Brauer.
    Emmert S, Küster W, Zutt M, Hänssle H, Hallermann C, Kretschmer L, Neumann C.
    J Am Acad Dermatol; 2003 Dec; 49(6):1166-9. PubMed ID: 14639410
    [Abstract] [Full Text] [Related]

  • 15. Particular Mal de Meleda phenotypes in Tunisia and mutations founder effect in the Mediterranean region.
    Bchetnia M, Laroussi N, Youssef M, Charfeddine C, Ben Brick AS, Boubaker MS, Mokni M, Abdelhak S, Zili J, Benmously R.
    Biomed Res Int; 2013 Dec; 2013():206803. PubMed ID: 24093092
    [Abstract] [Full Text] [Related]

  • 16. Clinical, histological and genetic investigation of Buschke-Fischer-Brauer's disease in Tunisian families.
    Bchetnia M, Charfeddine C, Kassar S, Hanchi I, Tounsi-Guettiti H, Rebai A, Osman AD, Kubisch C, Abdelhak S, Boubaker S, Mokni M.
    J Dermatol Sci; 2009 Apr; 54(1):54-6. PubMed ID: 19136236
    [No Abstract] [Full Text] [Related]

  • 17. Case of punctate palmoplantar keratoderma type I treated with combination of low-dose oral acitretin and topical salicylic acid and steroid.
    Jo JW, Jeong DS, Kim CY.
    J Dermatol; 2018 May; 45(5):609-612. PubMed ID: 29500825
    [Abstract] [Full Text] [Related]

  • 18. Identification of a founder variant AAGAB c.370C>T, p.Arg124Ter in patients with punctate palmoplantar keratoderma in Southern Denmark.
    Gram SB, Jørgensen ASF, Bygum A, Brusgaard K, Ousager LB.
    Clin Genet; 2024 May; 105(5):561-566. PubMed ID: 38311882
    [Abstract] [Full Text] [Related]

  • 19. [Mal de Meleda. 16 cases].
    Marrakchi Z, Marrachi S, Meziou TJ, Turki H, Zahaf A.
    Tunis Med; 2006 Jul; 84(7):423-6. PubMed ID: 17039733
    [Abstract] [Full Text] [Related]

  • 20. [Molecular genetic study of a family affected with punctate palmoplantar keratoderma].
    Jia Y, Wang S, Zhu Y, Luo D.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Jun 10; 34(3):369-372. PubMed ID: 28604957
    [Abstract] [Full Text] [Related]

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