BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

168 related articles for article (PubMed ID: 31119804)

  • 1. New novel mutations in Brazilian families with X-linked Charcot-Marie-Tooth disease.
    Gouvea SP; Tomaselli PJ; Barretto LS; Perina KCB; Nyshyama FS; Nicolau N; Lourenço CM; Marques W
    J Peripher Nerv Syst; 2019 Jun; 24(2):207-212. PubMed ID: 31119804
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Genetic epidemiology of Charcot-Marie-Tooth disease.
    Braathen GJ
    Acta Neurol Scand Suppl; 2012; (193):iv-22. PubMed ID: 23106488
    [TBL] [Abstract][Full Text] [Related]  

  • 3. -459C>T point mutation in 5' non-coding region of human GJB1 gene is linked to X-linked Charcot-Marie-Tooth neuropathy.
    Li M; Cheng TS; Ho PW; Chan KH; Mak W; Cheung RT; Ramsden DB; Sham PC; Song Y; Ho SL
    J Peripher Nerv Syst; 2009 Mar; 14(1):14-21. PubMed ID: 19335535
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease.
    Dubourg O; Tardieu S; Birouk N; Gouider R; Léger JM; Maisonobe T; Brice A; Bouche P; LeGuern E
    Brain; 2001 Oct; 124(Pt 10):1958-67. PubMed ID: 11571214
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A novel mutation in GJB1 (c.212T>G) in a Chinese family with X-linked Charcot-Marie-Tooth disease.
    Xiao F; Tan JZ; Zhang X; Wang XF
    J Clin Neurosci; 2015 Mar; 22(3):513-8. PubMed ID: 25595958
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. Mutational analysis of the 5' non-coding region of GJB1 in a Taiwanese cohort with Charcot-Marie-Tooth neuropathy.
    Tsai PC; Chen CH; Liu AB; Chen YC; Soong BW; Lin KP; Yet SF; Lee YC
    J Neurol Sci; 2013 Sep; 332(1-2):51-5. PubMed ID: 23827825
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mutation Analysis of Gap Junction Protein Beta 1 and Genotype-Phenotype Correlation in X-linked Charcot-Marie-Tooth Disease in Chinese Patients.
    Sun B; Chen ZH; Ling L; Li YF; Liu LZ; Yang F; Huang XS
    Chin Med J (Engl); 2016 May; 129(9):1011-6. PubMed ID: 27098783
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A novel GJB1 mutation associated with X-linked Charcot-Marie-Tooth disease in a large Chinese family pedigree.
    Liu Y; Xue J; Li Z; Linpeng S; Tan H; Teng Y; Liang D; Wu L
    Mol Genet Genomic Med; 2020 Mar; 8(3):e1127. PubMed ID: 31943912
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. [Two novel mutations of GJB1 gene associated with typical X-linked Charcot-Marie-Tooth disease].
    Qiao XH; Li YX; Chang XZ; Luan XH; Chen B; Bu DF; Yuan Y
    Zhonghua Yi Xue Za Zhi; 2009 Dec; 89(47):3328-31. PubMed ID: 20193560
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Four novel connexin 32 mutations in X-linked Charcot-Marie-Tooth disease. Phenotypic variability and central nervous system involvement.
    Karadima G; Koutsis G; Raftopoulou M; Floroskufi P; Karletidi KM; Panas M
    J Neurol Sci; 2014 Jun; 341(1-2):158-61. PubMed ID: 24768312
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene.
    Miltenberger-Miltenyi G; Janecke AR; Wanschitz JV; Timmerman V; Windpassinger C; Auer-Grumbach M; Löscher WN
    Arch Neurol; 2007 Jul; 64(7):966-70. PubMed ID: 17620486
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A novel deletion mutation in GJB1 causes X-linked Charcot-Marie-Tooth disease in a Han Chinese family.
    Lin P; Mao F; Liu Q; Yang W; Shao C; Yan C; Gong Y
    Muscle Nerve; 2010 Dec; 42(6):922-6. PubMed ID: 21104867
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Efficient neurophysiologic selection of X-linked Charcot-Marie-Tooth families: ten novel mutations.
    Nicholson GA; Yeung L; Corbett A
    Neurology; 1998 Nov; 51(5):1412-6. PubMed ID: 9818870
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth disease.
    Lee MJ; Nelson I; Houlden H; Sweeney MG; Hilton-Jones D; Blake J; Wood NW; Reilly MM
    J Neurol Neurosurg Psychiatry; 2002 Sep; 73(3):304-6. PubMed ID: 12185164
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Clinical, electrophysiological and molecular genetic studies in a family with X-linked dominant Charcot-Marie-Tooth neuropathy presenting a novel mutation in GJB1 Promoter and a rare polymorphism in LITAF/SIMPLE.
    Beauvais K; Furby A; Latour P
    Neuromuscul Disord; 2006 Jan; 16(1):14-8. PubMed ID: 16373087
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 9.