BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

151 related articles for article (PubMed ID: 8414036)

  • 1. Nerve conduction studies in Charcot-Marie-Tooth polyneuropathy associated with a segmental duplication of chromosome 17.
    Kaku DA; Parry GJ; Malamut R; Lupski JR; Garcia CA
    Neurology; 1993 Sep; 43(9):1806-8. PubMed ID: 8414036
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Intermediate nerve conduction velocities define X-linked Charcot-Marie-Tooth neuropathy families.
    Nicholson G; Nash J
    Neurology; 1993 Dec; 43(12):2558-64. PubMed ID: 8255457
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases.
    Birouk N; Gouider R; Le Guern E; Gugenheim M; Tardieu S; Maisonobe T; Le Forestier N; Agid Y; Brice A; Bouche P
    Brain; 1997 May; 120 ( Pt 5)():813-23. PubMed ID: 9183252
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A molecular, cytogenetic, and clinical evaluation of mosaic tandem duplication 17p and Charcot-Marie-Tooth type 1A neuropathy.
    Reddy KS; Larsen MB
    J Med Genet; 1998 Feb; 35(2):169-72. PubMed ID: 9507402
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A.
    Lupski JR; Wise CA; Kuwano A; Pentao L; Parke JT; Glaze DG; Ledbetter DH; Greenberg F; Patel PI
    Nat Genet; 1992 Apr; 1(1):29-33. PubMed ID: 1301995
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1 neuropathy.
    Roa BB; Greenberg F; Gunaratne P; Sauer CM; Lubinsky MS; Kozma C; Meck JM; Magenis RE; Shaffer LG; Lupski JR
    Hum Genet; 1996 May; 97(5):642-9. PubMed ID: 8655146
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Peroneal muscular atrophy with autosomal dominant inheritance.
    McLeod JG; Low PA
    Clin Exp Neurol; 1977; 14():142-53. PubMed ID: 616594
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Longitudinal studies of the duplication form of Charcot-Marie-Tooth polyneuropathy.
    Killian JM; Tiwari PS; Jacobson S; Jackson RD; Lupski JR
    Muscle Nerve; 1996 Jan; 19(1):74-8. PubMed ID: 8538673
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Charcot-Marie-Tooth phenotype produced by a duplicated PMP22 gene as part of a 17p trisomy-translocation to the X chromosome.
    King PH; Waldrop R; Lupski JR; Shaffer LG
    Clin Genet; 1998 Nov; 54(5):413-6. PubMed ID: 9842994
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Neurophysiology and molecular genetics of Charcot-Marie-Tooth type 1 neuropathy in Croatian children: follow-up study.
    Barisić N; Mihatov I
    Croat Med J; 2000 Sep; 41(3):306-13. PubMed ID: 10962051
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Molecular genetics and neuropathology of Charcot-Marie-Tooth disease type 1A.
    Lupski JR; Garcia CA
    Brain Pathol; 1992 Oct; 2(4):337-49. PubMed ID: 1341967
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Trisomy 17p associated with Charcot-Marie-Tooth neuropathy type 1A phenotype: evidence for gene dosage as a mechanism in CMT1A.
    Chance PF; Bird TD; Matsunami N; Lensch MW; Brothman AR; Feldman GM
    Neurology; 1992 Dec; 42(12):2295-9. PubMed ID: 1461382
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Electrophysiological characterization of Charcot-Marie-Tooth disease type 1A in Taiwan.
    Huang LW; Lin KP; Chang MH; Liao YC; Liao KK; Soong BW; Lee YC
    J Chin Med Assoc; 2012 May; 75(5):197-202. PubMed ID: 22632984
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Charcot-Marie-Tooth disease type 1A with 17p duplication in infancy and early childhood: a longitudinal clinical and electrophysiologic study.
    García A; Combarros O; Calleja J; Berciano J
    Neurology; 1998 Apr; 50(4):1061-7. PubMed ID: 9566395
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Charcot-Marie-tooth disease 1A (CMT1A) associated with a maternal duplication of chromosome 17p11.2-->12.
    Upadhyaya M; Roberts SH; Farnham J; MacMillan JC; Clarke A; Heath JP; Hodges IC; Harper PS
    Hum Genet; 1993 May; 91(4):392-4. PubMed ID: 8500795
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Clinical and pathological phenotype of the original family with Charcot-Marie-Tooth type 1B: a 20-year study.
    Bird TD; Kraft GH; Lipe HP; Kenney KL; Sumi SM
    Ann Neurol; 1997 Apr; 41(4):463-9. PubMed ID: 9124803
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Screening of dominantly inherited Charcot-Marie-Tooth neuropathies.
    Ionasescu VV; Ionasescu R; Searby C
    Muscle Nerve; 1993 Nov; 16(11):1232-8. PubMed ID: 8413376
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [A sporadic case of Charcot-Marie-Tooth disease type 1 A associated with a duplication in chromosome 17 p11.2-p12].
    Inoue M; Kojima M; Aikoh H; Sugai K; Murakami N; Nonaka I; Hayasaka K; Yamamoto M; Sobue G
    No To Hattatsu; 1999 Sep; 31(5):452-7. PubMed ID: 10487071
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Modelization of motor nerve conduction velocities for Charcot-Marie-Tooth (Type-1) patients. CMT-France Network.
    Sturtz FG; Chauvin F; Ollagnon-Roman E; Bost M; Latour P; Bonnebouche C; Gonnaud PM; Bady B; Chazot G; Vandenberghe A
    Eur Neurol; 1996; 36(4):224-8. PubMed ID: 8814426
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.