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 *

105 related articles for article (PubMed ID: 18949782)

  • 21. A Review of X-linked Charcot-Marie-Tooth Disease.
    Wang Y; Yin F
    J Child Neurol; 2016 May; 31(6):761-72. PubMed ID: 26385972
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Mutations in the peripheral myelin protein zero and connexin32 genes detected by non-isotopic RNase cleavage assay and their phenotypes in Japanese patients with Charcot-Marie-Tooth disease.
    Yoshihara T; Yamamoto M; Doyu M; Mis KI; Hattori N; Hasegawa Y; Mokuno K; Mitsuma T; Sobue G
    Hum Mutat; 2000 Aug; 16(2):177-8. PubMed ID: 10923043
    [TBL] [Abstract][Full Text] [Related]  

  • 23. 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]  

  • 24. Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1.
    Huehne K; Benes V; Thiel C; Kraus C; Kress W; Hoeltzenbein M; Ploner CJ; Kotzian J; Reis A; Rott HD; Rautenstrauss BW
    Hum Mutat; 2003 Jan; 21(1):100. PubMed ID: 12497641
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Genotype/phenotype correlations in X-linked dominant Charcot-Marie-Tooth disease.
    Hahn AF; Bolton CF; White CM; Brown WF; Tuuha SE; Tan CC; Ainsworth PJ
    Ann N Y Acad Sci; 1999 Sep; 883():366-82. PubMed ID: 10586261
    [TBL] [Abstract][Full Text] [Related]  

  • 26. A novel 9-bp insertion in the GJB1 gene causing a mild form of X-linked CMT with late onset.
    Vazza G; Merlini L; Bertolin C; Zortea M; Mostacciuolo ML
    Neuromuscul Disord; 2006 Dec; 16(12):878-81. PubMed ID: 17052905
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Phenotypes of X-linked Charcot-Marie-Tooth disease and altered trafficking of mutant connexin 32 (GJB1).
    Matsuyama W; Nakagawa M; Moritoyo T; Takashima H; Umehara F; Hirata K; Suehara M; Osame M
    J Hum Genet; 2001; 46(6):307-13. PubMed ID: 11393532
    [TBL] [Abstract][Full Text] [Related]  

  • 28. New point mutations and deletions of the connexin 32 gene in X-linked Charcot-Marie-Tooth neuropathy.
    Ionasescu V; Searby C; Ionasescu R; Meschino W
    Neuromuscul Disord; 1995 Jul; 5(4):297-9. PubMed ID: 7580242
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Novel GJB1 mutation causing adult-onset Charcot-Marie-Tooth disease in a female patient.
    Martikainen MH; Majamaa K
    Neuromuscul Disord; 2013 Nov; 23(11):899-901. PubMed ID: 23838279
    [TBL] [Abstract][Full Text] [Related]  

  • 30. [Charcot-Marie Tooth type X (CMTX) disease: clinical and genetic characteristics of eleven patients].
    Kochański A; Ryniewicz B; Jedrzejowska H; Kabzińska D
    Neurol Neurochir Pol; 2002; 36(6):1087-94. PubMed ID: 12715686
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Unusual features of central nervous system involvement in CMTX associated with a novel mutation of GJB1 gene.
    Stancanelli C; Taioli F; Testi S; Fabrizi GM; Arena MG; Granata F; Russo M; Gentile L; Vita G; Mazzeo A
    J Peripher Nerv Syst; 2012 Dec; 17(4):407-11. PubMed ID: 23279342
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Connexin 32 mutation in a Turkish family with X-linked Charcot-Marie-Tooth disease.
    Sahin N; Tan M; Kalay E; Calapoglu M; Karaguzel A
    Int J Neurosci; 2003 Jun; 113(6):777-85. PubMed ID: 12775342
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients.
    Rudnik-Schöneborn S; Tölle D; Senderek J; Eggermann K; Elbracht M; Kornak U; von der Hagen M; Kirschner J; Leube B; Müller-Felber W; Schara U; von Au K; Wieczorek D; Bußmann C; Zerres K
    Clin Genet; 2016 Jan; 89(1):34-43. PubMed ID: 25850958
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with novel connexin 32 mutation.
    Hanemann CO; Bergmann C; Senderek J; Zerres K; Sperfeld AD
    Arch Neurol; 2003 Apr; 60(4):605-9. PubMed ID: 12707076
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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]  

  • 36. Mutations in connexin 32: the molecular and biophysical bases for the X-linked form of Charcot-Marie-Tooth disease.
    Abrams CK; Oh S; Ri Y; Bargiello TA
    Brain Res Brain Res Rev; 2000 Apr; 32(1):203-14. PubMed ID: 10751671
    [TBL] [Abstract][Full Text] [Related]  

  • 37. X-linked dominant Charcot-Marie-Tooth disease with connexin 32 (Cx32) mutations in Koreans.
    Kim Y; Choi KG; Park KD; Lee KS; Chung KW; Choi BO
    Clin Genet; 2012 Feb; 81(2):142-9. PubMed ID: 21291455
    [TBL] [Abstract][Full Text] [Related]  

  • 38. 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]  

  • 39. An 8-generation family with X-linked Charcot-Marie-Tooth: Confirmation Of the pathogenicity Of a 3' untranslated region mutation in GJB1 and its clinical features.
    Chen DH; Ma M; Scavina M; Blue E; Wolff J; Karna P; Dorschner MO; Raskind WH; Bird TD
    Muscle Nerve; 2018 May; 57(5):859-862. PubMed ID: 29236290
    [TBL] [Abstract][Full Text] [Related]  

  • 40. X-linked Charcot-Marie-Tooth disease and connexin32.
    Ionasescu VV
    Cell Biol Int; 1998 Nov; 22(11-12):807-13. PubMed ID: 10873293
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 6.