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

146 related items for PubMed ID: 15050877

  • 1. A study of phenotypic correlation with the genotypic status of HTM regions of KRTHB6 and KRTHB1 genes in monilethrix families of Indian origin.
    Khandpur S, Bairwa NK, Reddy BS, Bamezai R.
    Ann Genet; 2004; 47(1):77-84. PubMed ID: 15050877
    [Abstract] [Full Text] [Related]

  • 2.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 3. Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix.
    Winter H, Rogers MA, Langbein L, Stevens HP, Leigh IM, Labrèze C, Roul S, Taieb A, Krieg T, Schweizer J.
    Nat Genet; 1997 Aug; 16(4):372-4. PubMed ID: 9241275
    [Abstract] [Full Text] [Related]

  • 4. A mutational hotspot in the 2B domain of human hair basic keratin 6 (hHb6) in monilethrix patients.
    Korge BP, Healy E, Munro CS, Pünter C, Birch-Machin M, Holmes SC, Darlington S, Hamm H, Messenger AG, Rees JL, Traupe H.
    J Invest Dermatol; 1998 Nov; 111(5):896-9. PubMed ID: 9804356
    [Abstract] [Full Text] [Related]

  • 5. Mapping of monilethrix to the type II keratin gene cluster at chromosome 12q13 in three new families, including one with variable expressivity.
    Birch-Machin MA, Healy E, Turner R, Haldane F, Belgaid CE, Darlington S, Stephenson AM, Munro C, Messenger AG, Rees JL.
    Br J Dermatol; 1997 Sep; 137(3):339-43. PubMed ID: 9349326
    [Abstract] [Full Text] [Related]

  • 6. Monilethrix: mutational hotspot in the helix termination motif of the human hair basic keratin 6.
    Horev L, Glaser B, Metzker A, Ben-Amitai D, Vardy D, Zlotogorski A.
    Hum Hered; 2000 Sep; 50(5):325-30. PubMed ID: 10878479
    [Abstract] [Full Text] [Related]

  • 7. Identification of novel mutations in basic hair keratins hHb1 and hHb6 in monilethrix: implications for protein structure and clinical phenotype.
    Korge BP, Hamm H, Jury CS, Traupe H, Irvine AD, Healy E, Birch-MacHin M, Rees JL, Messenger AG, Holmes SC, Parry DA, Munro CS.
    J Invest Dermatol; 1999 Oct; 113(4):607-12. PubMed ID: 10504448
    [Abstract] [Full Text] [Related]

  • 8. Sutural cataract associated with a mutation in the ferritin light chain gene (FTL) in a family of Indian origin.
    Vanita V, Hejtmancik JF, Hennies HC, Guleria K, Nürnberg P, Singh D, Sperling K, Singh JR.
    Mol Vis; 2006 Feb 21; 12():93-9. PubMed ID: 16518306
    [Abstract] [Full Text] [Related]

  • 9. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug 21; 56(3):105-52. PubMed ID: 19728970
    [Abstract] [Full Text] [Related]

  • 10. Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix.
    Djabali K, Panteleyev AA, Lalin T, Garzon MC, Longley BJ, Bickers DR, Zlotogorski A, Christiano AM.
    Clin Exp Dermatol; 2003 Mar 21; 28(2):206-10. PubMed ID: 12653715
    [Abstract] [Full Text] [Related]

  • 11. Pure hair-nail ectodermal dysplasia maps to chromosome 12p11.1-q21.1 in a consanguineous Pakistani family.
    Naeem M, John P, Ali G, Ahmad W.
    Clin Exp Dermatol; 2007 Sep 21; 32(5):502-5. PubMed ID: 17489990
    [Abstract] [Full Text] [Related]

  • 12. Recurrent E413K mutation of hHb6 in a Japanese family with monilethrix.
    Muramatsu S, Kimura T, Ueki R, Tsuboi R, Ikeda S, Ogawa H.
    Dermatology; 2003 Sep 21; 206(4):338-40. PubMed ID: 12771477
    [Abstract] [Full Text] [Related]

  • 13. De novo mutations in monilethrix.
    Horev L, Djabali K, Green J, Sinclair R, Martinez-Mir A, Ingber A, Christiano AM, Zlotogorski A.
    Exp Dermatol; 2003 Dec 21; 12(6):882-5. PubMed ID: 14714571
    [Abstract] [Full Text] [Related]

  • 14. A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix.
    Winter H, Rogers MA, Gebhardt M, Wollina U, Boxall L, Chitayat D, Babul-Hirji R, Stevens HP, Zlotogorski A, Schweizer J.
    Hum Genet; 1997 Dec 21; 101(2):165-9. PubMed ID: 9402962
    [Abstract] [Full Text] [Related]

  • 15. Truncating mutation in the NHS gene: phenotypic heterogeneity of Nance-Horan syndrome in an asian Indian family.
    Ramprasad VL, Thool A, Murugan S, Nancarrow D, Vyas P, Rao SK, Vidhya A, Ravishankar K, Kumaramanickavel G.
    Invest Ophthalmol Vis Sci; 2005 Jan 21; 46(1):17-23. PubMed ID: 15623749
    [Abstract] [Full Text] [Related]

  • 16. Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance.
    Celep F, Uzumcu A, Sonmez FM, Uyguner O, Balci YI, Bahadir S, Karaguzel A.
    Genet Couns; 2009 Jan 21; 20(1):1-8. PubMed ID: 19400537
    [Abstract] [Full Text] [Related]

  • 17. A novel promoter polymorphism (-71C>T) in KRTHB6 gene in Indian population.
    Bairwa NK, Malhotra D, Saha A, Bamezai R.
    Ann Genet; 2004 Jan 21; 47(2):125-7. PubMed ID: 15183744
    [Abstract] [Full Text] [Related]

  • 18. A variable monilethrix phenotype associated with a novel mutation, Glu402Lys, in the helix termination motif of the type II hair keratin hHb1.
    Winter H, Labrèze C, Chapalain V, Surlève-Bazeille JE, Mercier M, Rogers MA, Taieb A, Schweizer J.
    J Invest Dermatol; 1998 Jul 21; 111(1):169-72. PubMed ID: 9665406
    [Abstract] [Full Text] [Related]

  • 19. Molecular genetic analysis of two functional candidate genes in the autosomal recessive retinitis pigmentosa, RP25, locus.
    Abd El-Aziz MM, El-Ashry MF, Barragan I, Marcos I, Borrego S, Antiñolo G, Bhattacharya SS.
    Curr Eye Res; 2005 Dec 21; 30(12):1081-7. PubMed ID: 16354621
    [Abstract] [Full Text] [Related]

  • 20. A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance.
    De Cruz R, Horev L, Green J, Babay S, Sladden M, Zlotogorski A, Sinclair R.
    Br J Dermatol; 2012 Jun 21; 166 Suppl 2():20-6. PubMed ID: 22670615
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 8.