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 *

107 related articles for article (PubMed ID: 7910226)

  • 1. CMTX1: a gap junction genetic disease.
    Spray DC
    Lancet; 1994 May; 343(8906):1111-2. PubMed ID: 7910226
    [No Abstract]   [Full Text] [Related]  

  • 2. Consortium fine localization of X-linked Charcot-Marie-Tooth disease (CMTX1): additional support that connexin32 is the defect in CMTX1.
    Pericak-Vance MA; Barker DF; Bergoffen JA; Chance P; Cochrane S; Dahl N; Exler MC; Fain PR; Fairweather ND; Fischbeck K
    Hum Hered; 1995; 45(3):121-8. PubMed ID: 7615296
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Clinical characterization and genetic analysis of Korean patients with X-linked Charcot-Marie-Tooth disease type 1.
    Hong YB; Park JM; Yu JS; Yoo DH; Nam DE; Park HJ; Lee JS; Hwang SH; Chung KW; Choi BO
    J Peripher Nerv Syst; 2017 Sep; 22(3):172-181. PubMed ID: 28448691
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Becker muscular dystrophy combined with X-linked Charcot-Marie-Tooth neuropathy.
    Bergmann C; Senderek J; Hermanns B; Jauch A; Janssen B; Schröder JM; Karch D
    Muscle Nerve; 2000 May; 23(5):818-23. PubMed ID: 10797409
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. A novel mutation of gap junction protein β 1 gene in X-linked Charcot-Marie-Tooth disease.
    Chen SD; Li ZX; Guan YT; Zhou XJ; Jiang JM; Hao Y
    Muscle Nerve; 2011 Jun; 43(6):887-92. PubMed ID: 21607969
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Three novel mutations and genetic epidemiology analysis of the Gap Junction Beta 1 (GJB1) gene among Hungarian Charcot-Marie-Tooth disease patients.
    Milley GM; Varga ET; Grosz Z; Bereznai B; Aranyi Z; Boczan J; Dioszeghy P; Kálmán B; Gal A; Molnar MJ
    Neuromuscul Disord; 2016 Oct; 26(10):706-711. PubMed ID: 27544631
    [TBL] [Abstract][Full Text] [Related]  

  • 9. X-linked Charcot-Marie-Tooth disease and connexin32.
    Fischbeck KH; Abel A; Lin GS; Scherer SS
    Ann N Y Acad Sci; 1999 Sep; 883():36-41. PubMed ID: 10586227
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Mutation screening of Charcot-Marie-Tooth patients in Poland.
    Kochański A; Timmerman V; Jedrzejowska H; Ryniewicz B; Löfgren A; De Vriendt E; Van Broeckhoven C; Latos-Bieleńska A; Hausmanowa-Petrusewicz I
    Ann N Y Acad Sci; 1999 Sep; 883():493-6. PubMed ID: 10586282
    [No Abstract]   [Full Text] [Related]  

  • 12. Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study.
    Nelis E; Van Broeckhoven C; De Jonghe P; Löfgren A; Vandenberghe A; Latour P; Le Guern E; Brice A; Mostacciuolo ML; Schiavon F; Palau F; Bort S; Upadhyaya M; Rocchi M; Archidiacono N; Mandich P; Bellone E; Silander K; Savontaus ML; Navon R; Goldberg-Stern H; Estivill X; Volpini V; Friedl W; Gal A
    Eur J Hum Genet; 1996; 4(1):25-33. PubMed ID: 8800924
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Novel familial pathogenic mutation in gap junction protein, beta-1 gene (GJB1) associated with transient neurological deficits in a patient with X-linked Charcot-Marie-Tooth disease.
    Appu M; Mar S
    Muscle Nerve; 2014 Dec; 50(6):1023-4. PubMed ID: 25043634
    [No Abstract]   [Full Text] [Related]  

  • 14. X-linked Charcot-Marie-Tooth disease: phenotypic expression of a novel mutation Ile127Ser in the GJB1 (connexin 32) gene.
    Vondracek P; Seeman P; Hermanova M; Fajkusova L
    Muscle Nerve; 2005 Feb; 31(2):252-5. PubMed ID: 15468313
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. X-linked Charcot-Marie-Tooth disease: molecular analysis of interfamilial variability.
    Niewiadomski LA; Kelly TE
    Am J Med Genet; 1996 Dec; 66(2):175-8. PubMed ID: 8958325
    [TBL] [Abstract][Full Text] [Related]  

  • 17. X-linked Charcot-Marie-Tooth type 1: stroke-like presentation of a novel GJB1 mutation.
    Sagnelli A; Piscosquito G; Chiapparini L; Ciano C; Salsano E; Saveri P; Milani M; Taroni F; Pareyson D
    J Peripher Nerv Syst; 2014 Jun; 19(2):183-6. PubMed ID: 24863494
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Connexins in disease.
    Bennett MV
    Nature; 1994 Mar; 368(6466):18-9. PubMed ID: 8107878
    [No Abstract]   [Full Text] [Related]  

  • 19. 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; 13(4):339. PubMed ID: 10220155
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 6.