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

160 related items for PubMed ID: 7912286

  • 1. X linked Charcot-Marie-Tooth disease (CMTX1): a study of 15 families with 12 highly informative polymorphisms.
    Cochrane S, Bergoffen J, Fairweather ND, Müller E, Mostacciuolo ML, Monaco AP, Fischbeck KH, Haites NE.
    J Med Genet; 1994 Mar; 31(3):193-6. PubMed ID: 7912286
    [Abstract] [Full Text] [Related]

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

  • 3. Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1).
    Fairweather N, Bell C, Cochrane S, Chelly J, Wang S, Mostacciuolo ML, Monaco AP, Haites NE.
    Hum Mol Genet; 1994 Jan; 3(1):29-34. PubMed ID: 8162049
    [Abstract] [Full Text] [Related]

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

  • 5. Charcot-Marie-Tooth neuropathies: from clinical description to molecular genetics.
    Ionasescu VV.
    Muscle Nerve; 1995 Mar; 18(3):267-75. PubMed ID: 7870103
    [Abstract] [Full Text] [Related]

  • 6. Proof of genetic heterogeneity in X-linked Charcot-Marie-Tooth disease.
    Huttner IG, Kennerson ML, Reddel SW, Radovanovic D, Nicholson GA.
    Neurology; 2006 Dec 12; 67(11):2016-21. PubMed ID: 17159110
    [Abstract] [Full Text] [Related]

  • 7. Mapping of the gene for X-linked dominant Charcot-Marie-Tooth neuropathy.
    Ionasescu VV, Trofatter J, Haines JL, Ionasescu R, Searby C.
    Neurology; 1992 Apr 12; 42(4):903-8. PubMed ID: 1565250
    [Abstract] [Full Text] [Related]

  • 8. Novel missense mutation of the connexin32 (GJB1) gene in X-linked dominant Charcot-Marie-Tooth neuropathy.
    Schiavon F, Fracasso C, Mostacciuolo ML.
    Hum Mutat; 1996 Apr 12; 8(1):83-4. PubMed ID: 8807343
    [No Abstract] [Full Text] [Related]

  • 9. Localization of X-linked dominant Charcot-Marie-Tooth disease (CMT 2) to Xq13.
    Beckett J, Holden JJ, Simpson NE, White BN, MacLeod PM.
    J Neurogenet; 1986 Jul 12; 3(4):225-31. PubMed ID: 3462379
    [Abstract] [Full Text] [Related]

  • 10. Correlation between connexin 32 gene mutations and clinical phenotype in X-linked dominant Charcot-Marie-Tooth neuropathy.
    Ionasescu V, Ionasescu R, Searby C.
    Am J Med Genet; 1996 Jun 14; 63(3):486-91. PubMed ID: 8737658
    [Abstract] [Full Text] [Related]

  • 11. Point mutations of the connexin32 (GJB1) gene in X-linked dominant Charcot-Marie-Tooth neuropathy.
    Ionasescu V, Searby C, Ionasescu R.
    Hum Mol Genet; 1994 Feb 14; 3(2):355-8. PubMed ID: 8004109
    [Abstract] [Full Text] [Related]

  • 12. Three novel mutations in the gap junction beta 1 (GJB1) gene coding region identified in Charcot-Marie-Tooth patients of Greek origin: T55I, R164Q, V120E. Mutation in brief no 236. Online.
    Karadimas C, Panas M, Chronopoulou P, Avramopoulos D, Vassilopoulos D.
    Hum Mutat; 1999 Feb 14; 13(4):339. PubMed ID: 10220155
    [Abstract] [Full Text] [Related]

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

  • 14.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 15. Linkage and mutation analysis of Charcot-Marie-Tooth neuropathy type 2 families with chromosomes 1p35-p36 and Xq13.
    Timmerman V, De Jonghe P, Spoelders P, Simokovic S, Löfgren A, Nelis E, Vance J, Martin JJ, Van Broeckhoven C.
    Neurology; 1996 May 14; 46(5):1311-8. PubMed ID: 8628473
    [Abstract] [Full Text] [Related]

  • 16. X-linked dominant Charcot-Marie-Tooth disease: suggestion of linkage with a cloned DNA sequence from the proximal Xq.
    Gal A, Mücke J, Theile H, Wieacker PF, Ropers HH, Wienker TF.
    Hum Genet; 1985 May 14; 70(1):38-42. PubMed ID: 2987105
    [Abstract] [Full Text] [Related]

  • 17. Expansion of the phenotypic spectrum of X-linked Charcot-Marie-Tooth (CMT) disease.
    Yang Q, Xiao X, Yuan Z, Jiao B, Liao X, Du J.
    J Clin Neurosci; 2020 Mar 14; 73():311-313. PubMed ID: 31987637
    [Abstract] [Full Text] [Related]

  • 18. New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease.
    Bone LJ, Dahl N, Lensch MW, Chance PF, Kelly T, Le Guern E, Magi S, Parry G, Shapiro H, Wang S.
    Neurology; 1995 Oct 14; 45(10):1863-6. PubMed ID: 7477983
    [Abstract] [Full Text] [Related]

  • 19. X-linked dominant Charcot-Marie-Tooth neuropathy (CMTX): new mutations in the connexin32 gene.
    Ressot C, Latour P, Blanquet-Grossard F, Sturtz F, Duthel S, Battin J, Corbillon E, Ollagnon E, Serville F, Vandenberghe A, Dautigny A, Pham-Dinh D.
    Hum Genet; 1996 Aug 14; 98(2):172-5. PubMed ID: 8698335
    [Abstract] [Full Text] [Related]

  • 20. Linkage analyses between dominant X-linked Charcot-Marie-Tooth disease, and 15 Xq11-Xq21 microsatellites in a new large family: three new markers are closely linked to the gene.
    Le Guern E, Ravise N, Gugenheim M, Vignal A, Penet C, Bouche P, Weissenbach J, Agid Y, Brice A.
    Neuromuscul Disord; 1994 Aug 14; 4(5-6):463-9. PubMed ID: 7881290
    [Abstract] [Full Text] [Related]

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