BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

122 related articles for article (PubMed ID: 23384994)

  • 1. Hereditary motor and sensory neuropathy (HMSN) type X1 in an Argentinean family reveals independent GJB1/Cx32 mutations at the identical nucleotide position.
    Gerding WM; Koetting J; Rey LP; Bibas Bonet H; Abdala ME; Mazzeo A; Mostacciuolo ML; Arning L; Carrero-Valenzuela R
    Mol Cell Probes; 2013; 27(3-4):118-21. PubMed ID: 23384994
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [Spectrum and frequency of mutations in the connexin 32 gene (GJB1) in hereditary and sensory neuropathy type 1X patients from Bashkortostan].
    Khidiianova IM; Bagautdinova EG; Galieva DV; Krupina NB; Shchagina OA; Tiburkova TB; Magzhanov RV; Poliakov AV; Khusnutdinova EK
    Genetika; 2008 Oct; 44(10):1385-91. PubMed ID: 19062535
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. [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]  

  • 7. 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]  

  • 8. 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]  

  • 9. CMT1X phenotypes represent loss of GJB1 gene function.
    Shy ME; Siskind C; Swan ER; Krajewski KM; Doherty T; Fuerst DR; Ainsworth PJ; Lewis RA; Scherer SS; Hahn AF
    Neurology; 2007 Mar; 68(11):849-55. PubMed ID: 17353473
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 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. Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients.
    Mersiyanova IV; Ismailov SM; Polyakov AV; Dadali EL; Fedotov VP; Nelis E; Löfgren A; Timmerman V; van Broeckhoven C; Evgrafov OV
    Hum Mutat; 2000; 15(4):340-7. PubMed ID: 10737979
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations.
    Numakura C; Lin C; Ikegami T; Guldberg P; Hayasaka K
    Hum Mutat; 2002 Nov; 20(5):392-8. PubMed ID: 12402337
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

  • 17. 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]  

  • 18. Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease.
    Mandich P; Grandis M; Geroldi A; Acquaviva M; Varese A; Gulli R; Ciotti P; Bellone E
    J Hum Genet; 2008; 53(6):529-533. PubMed ID: 18379723
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Two pathogenic mutations located within the 5'-regulatory sequence of the GJB1 gene affecting initiation of transcription and translation.
    Kabzińska D; Kotruchow K; Ryniewicz B; Kochański A
    Acta Biochim Pol; 2011; 58(3):359-63. PubMed ID: 21918739
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: characterization of 14 Cx32 mutations in 35 families.
    Rouger H; LeGuern E; Birouk N; Gouider R; Tardieu S; Plassart E; Gugenheim M; Vallat JM; Louboutin JP; Bouche P; Agid Y; Brice A
    Hum Mutat; 1997; 10(6):443-52. PubMed ID: 9401007
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.