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 *

164 related articles for article (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
    [TBL] [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. 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]  

  • 4. Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1).
    Janssen EA; Kemp S; Hensels GW; Sie OG; de Die-Smulders CE; Hoogendijk JE; de Visser M; Bolhuis PA
    Hum Genet; 1997 Apr; 99(4):501-5. PubMed ID: 9099841
    [TBL] [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
    [TBL] [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; 67(11):2016-21. PubMed ID: 17159110
    [TBL] [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; 42(4):903-8. PubMed ID: 1565250
    [TBL] [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; 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; 3(4):225-31. PubMed ID: 3462379
    [TBL] [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; 63(3):486-91. PubMed ID: 8737658
    [TBL] [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; 3(2):355-8. PubMed ID: 8004109
    [TBL] [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; 13(4):339. PubMed ID: 10220155
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 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; 46(5):1311-8. PubMed ID: 8628473
    [TBL] [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; 70(1):38-42. PubMed ID: 2987105
    [TBL] [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; 73():311-313. PubMed ID: 31987637
    [TBL] [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; 45(10):1863-6. PubMed ID: 7477983
    [TBL] [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; 98(2):172-5. PubMed ID: 8698335
    [TBL] [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; 4(5-6):463-9. PubMed ID: 7881290
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.