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 *

81 related articles for article (PubMed ID: 7993483)

  • 1. Handedness: basic physics.
    Hagen SJ
    Science; 1994 Sep; 265(5180):1792. PubMed ID: 7993483
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Corrections and clarifications.
    Science; 1994 Nov; 266(5186):716. PubMed ID: 17730379
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Charcot-Marie-Tooth disease and related inherited neuropathies.
    Murakami T; Garcia CA; Reiter LT; Lupski JR
    Medicine (Baltimore); 1996 Sep; 75(5):233-50. PubMed ID: 8862346
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Rapid detection of duplication/deletion of the PMP22 gene in patients with Charcot-Marie-Tooth disease Type 1A and hereditary neuropathy with liability to pressure palsy by real-time quantitative PCR using SYBR Green I dye.
    Kim SW; Lee KS; Jin HS; Lee TM; Koo SK; Lee YJ; Jung SC
    J Korean Med Sci; 2003 Oct; 18(5):727-32. PubMed ID: 14555828
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [Analysis of heterozygous duplication of PMP22 gene in a pedigree affected with Charcot Marie Tooth disease].
    Liao H; Zhang H; Liu H; Liu S; Wang H
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Oct; 33(5):649-52. PubMed ID: 27577214
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Genetic testing practices for Charcot-Marie-Tooth type 1A disease.
    Tousignant R; Trepanier A; Shy ME; Siskind CE
    Muscle Nerve; 2014 Apr; 49(4):478-82. PubMed ID: 23963961
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Peripheral myelin protein 22 gene duplication with atypical presentations: a new example of the wide spectrum of Charcot-Marie-Tooth 1A disease.
    Mathis S; Corcia P; Tazir M; Camu W; Magdelaine C; Latour P; Biberon J; Guennoc AM; Richard L; Magy L; Funalot B; Vallat JM
    Neuromuscul Disord; 2014 Jun; 24(6):524-8. PubMed ID: 24792522
    [TBL] [Abstract][Full Text] [Related]  

  • 9. The modifying effect a PMP22 deletion in a family with Charcot-Marie-Tooth type 1 neuropathy due to an EGR2 mutation.
    Reményi V; Inczédy-Farkas G; Gál A; Bereznai B; Pál Z; Karcagi V; Mechler F; Molnár MJ
    Ideggyogy Sz; 2014 Nov; 67(11-12):420-5. PubMed ID: 25720245
    [TBL] [Abstract][Full Text] [Related]  

  • 10. The 5' regulatory sequence of the PMP22 in the patients with Charcot-Marie-Tooth disease.
    Sinkiewicz-Darol E; Kabzińska D; Moszyńska I; Kochański A
    Acta Biochim Pol; 2010; 57(3):373-7. PubMed ID: 20842290
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [Detection of the PMP22 gene duplication in peripheral neuropathy patients: a study in Mexican population].
    Cortés H; Hernández-Hernández Ó; Bautista-Tirado T; Escobar-Cedillo RE; Magaña JJ; Leyva-García N
    Rev Neurol; 2014 Aug; 59(3):111-7. PubMed ID: 25030070
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Charcot-Marie-Tooth disease type 1A: molecular mechanisms of gene dosage and point mutation underlying a common inherited peripheral neuropathy.
    Roa BB; Garcia CA; Lupski JR
    Int J Neurol; 1991-1992; 25-26():97-107. PubMed ID: 11980069
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Patients homozygous for the 17p11.2 duplication in Charcot-Marie-Tooth type 1A disease.
    LeGuern E; Gouider R; Mabin D; Tardieu S; Birouk N; Parent P; Bouche P; Brice A
    Ann Neurol; 1997 Jan; 41(1):104-8. PubMed ID: 9005872
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A.
    Roa BB; Garcia CA; Pentao L; Killian JM; Trask BJ; Suter U; Snipes GJ; Ortiz-Lopez R; Shooter EM; Patel PI; Lupski JR
    Nat Genet; 1993 Oct; 5(2):189-94. PubMed ID: 8252046
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene.
    Roa BB; Garcia CA; Suter U; Kulpa DA; Wise CA; Mueller J; Welcher AA; Snipes GJ; Shooter EM; Patel PI; Lupski JR
    N Engl J Med; 1993 Jul; 329(2):96-101. PubMed ID: 8510709
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Detection of duplications or deletions of the PMP22 gene using real-time quantitative PCR].
    Zhang FF; Tang BS; Shen Y; Zhao GH; Xia K; Zhao YQ; Chen B; Zhang C; Pan Q; Cai F; Liu XM; Luo W; Zhang RX; Guo P
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2005 Oct; 22(5):537-40. PubMed ID: 16215943
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Molecular diagnosis and clinical onset of Charcot-Marie-Tooth disease in Japan.
    Abe A; Numakura C; Kijima K; Hayashi M; Hashimoto T; Hayasaka K
    J Hum Genet; 2011 May; 56(5):364-8. PubMed ID: 21326314
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [PMP22 mutation of an infant-onset Charcot-Marie-Tooth disease family].
    Xing JW; Liu YH; Shamsi BH; Liu XH; Tan L; Xu M
    Zhongguo Dang Dai Er Ke Za Zhi; 2011 Oct; 13(10):799-803. PubMed ID: 22000434
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mutation analysis of PMP22 in Slovak patients with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies.
    Resko P; Radvansky J; Odnogova Z; Baldovic M; Minarik G; Polakova H; Palffy R; Kadasi L
    Gen Physiol Biophys; 2011 Dec; 30(4):379-88. PubMed ID: 22131320
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Molecular genetic diagnosis of Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies].
    Aarskog NK; Vedeler CA
    Tidsskr Nor Laegeforen; 2002 Feb; 122(4):382-5. PubMed ID: 11915667
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 5.