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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

125 related articles for article (PubMed ID: 9452025)

  • 1. A novel mutation (C201R) in the transmembrane domain of connexin 32 in severe X-linked Charcot-Marie-Tooth disease.
    Sillén A; Annerén G; Dahl N
    Hum Mutat; 1998; Suppl 1():S8-9. PubMed ID: 9452025
    [No Abstract]   [Full Text] [Related]  

  • 2. Novel mutations in the connexin 32 gene associated with X-linked Charcot-Marie tooth disease.
    Tan CC; Ainsworth PJ; Hahn AF; MacLeod PM
    Hum Mutat; 1996; 7(2):167-71. PubMed ID: 8829637
    [No Abstract]   [Full Text] [Related]  

  • 3. X-linked dominant Charcot-Marie-Tooth neuropathy: valine-38-methionine substitution of connexin32.
    Orth U; Fairweather N; Exler MC; Schwinger E; Gal A
    Hum Mol Genet; 1994 Sep; 3(9):1699-700. PubMed ID: 7833935
    [No Abstract]   [Full Text] [Related]  

  • 4. Point mutation associated with X-linked dominant Charcot-Marie-Tooth disease impairs the P2 promoter activity of human connexin-32 gene.
    Wang HL; Wu T; Chang WT; Li AH; Chen MS; Wu CY; Fang W
    Brain Res Mol Brain Res; 2000 May; 78(1-2):146-53. PubMed ID: 10891594
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Allelic variants in the 5' non-coding region of the connexin32 gene: possible pitfalls in the diagnosis of X linked Charcot-Marie-Tooth neuropathy (CMTX).
    Bergmann C; Zerres K; Rudnik-Schöneborn S; Eggermann T; Schröder JM; Senderek J
    J Med Genet; 2002 Sep; 39(9):e58. PubMed ID: 12205128
    [No Abstract]   [Full Text] [Related]  

  • 6. Mutations in the X-linked form of Charcot-Marie-Tooth disease in the French population.
    Latour P; Lévy N; Paret M; Chapon F; Chazot G; Clavelou P; Couratier P; Dumas R; Ollagnon E; Pouget J; Setiey A; Vallat JM; Boucherat M; Fontes M; Vandenberghe A
    Neurogenetics; 1997 Sep; 1(2):117-23. PubMed ID: 10732813
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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; 45(10):1863-6. PubMed ID: 7477983
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Four novel mutations of the connexin 32 gene in four Japanese families with Charcot-Marie-Tooth disease type 1.
    Ikegami T; Lin C; Kato M; Itoh A; Nonaka I; Kurimura M; Hirayabashi H; Shinohara Y; Mochizuki A; Hayasaka K
    Am J Med Genet; 1998 Dec; 80(4):352-5. PubMed ID: 9856562
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A new de novo mutation of the connexin-32 gene in a patient with X-linked Charcot-Marie-Tooth type 1 disease.
    Di Iorio G; Cappa V; Ciccodicola A; Sampaolo S; Ammendola A; Sanges G; Giugliano R; D'Urso M
    Neurol Sci; 2000 Apr; 21(2):109-12. PubMed ID: 10938190
    [TBL] [Abstract][Full Text] [Related]  

  • 10. X-linked Charcot-Marie-Tooth disease with connexin 32 mutations: clinical and electrophysiologic study.
    Birouk N; LeGuern E; Maisonobe T; Rouger H; Gouider R; Tardieu S; Gugenheim M; Routon MC; Léger JM; Agid Y; Brice A; Bouche P
    Neurology; 1998 Apr; 50(4):1074-82. PubMed ID: 9566397
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Severe X-linked Charcot-Marie-Tooth neuropathy due to new mutations [G59R(G-->C), W44X(G-->A)] in the connexin 32 gene.
    Felice KJ; Seltzer WK
    Eur Neurol; 2000; 44(1):61-3. PubMed ID: 10894999
    [No Abstract]   [Full Text] [Related]  

  • 12. New mutations in the X-linked form of Charcot-Marie-Tooth disease.
    Latour P; Fabreguette A; Ressot C; Blanquet-Grossard F; Antoine JC; Calvas P; Chapon F; Corbillon E; Ollagnon E; Sturtz F; Boucherat M; Chazot G; Dautigny A; Pham-Dinh D; Vandenberghe A
    Eur Neurol; 1997; 37(1):38-42. PubMed ID: 9018031
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Charcot-Marie-Tooth type X: A novel mutation in the Cx32 gene with central conduction slowing.
    Seeman P; Mazanec R; Ctvrtecková M; Smilková D
    Int J Mol Med; 2001 Oct; 8(4):461-8. PubMed ID: 11562788
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A novel connexin 32 missense mutation (E208G) causing Charcot-Marie-Tooth disease.
    Kochanski A; Lofgren A; Jedrzejowska H; Ryniewicz B; Czarny-Ratajczak M; Barciszewska A; Samocko J; Hausmanowa-Petrusewicz I; De Jonghe P; Timmerman V; Latos-Bielenska A
    Hum Mutat; 2001 Feb; 17(2):157. PubMed ID: 11180613
    [No Abstract]   [Full Text] [Related]  

  • 15. Arginine-164-tryptophan substitution in connexin32 associated with X linked dominant Charcot-Marie-Tooth disease.
    Oterino A; Montón FI; Cabrera VM; Pinto F; Gonzalez A; Lavilla NR
    J Med Genet; 1996 May; 33(5):413-5. PubMed ID: 8733054
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A point mutation in codon 3 of connexin-32 is associated with X-linked Charcot-Marie-Tooth neuropathy.
    Gupta S; Benstead T; Neumann P; Guernsey D
    Hum Mutat; 1996; 8(4):375-6. PubMed ID: 8956046
    [No Abstract]   [Full Text] [Related]  

  • 18. 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; 8(1):83-4. PubMed ID: 8807343
    [No Abstract]   [Full Text] [Related]  

  • 19. 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; 46(5):1311-8. PubMed ID: 8628473
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mutations of the noncoding region of the connexin32 gene in X-linked dominant Charcot-Marie-Tooth neuropathy.
    Ionasescu VV; Searby C; Ionasescu R; Neuhaus IM; Werner R
    Neurology; 1996 Aug; 47(2):541-4. PubMed ID: 8757034
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.