BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

441 related articles for article (PubMed ID: 8252046)

  • 21. 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]  

  • 22. [Molecular pathology of Charcot-Marie-Tooth disease type 1A: abnormal expression of PMP-22].
    Yoshikawa H; Nishimura T; Yanagihara T
    Rinsho Shinkeigaku; 1995 Dec; 35(12):1441-3. PubMed ID: 8752424
    [TBL] [Abstract][Full Text] [Related]  

  • 23. 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]  

  • 24. Genetic evaluation of inherited motor/sensory neuropathy.
    Chance PF
    Suppl Clin Neurophysiol; 2004; 57():228-42. PubMed ID: 16106622
    [TBL] [Abstract][Full Text] [Related]  

  • 25. [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]  

  • 26. Isolation of novel genes from the CMT1A duplication/HNPP deletion critical region in 17p11.2-p12.
    Murakami T; Sun ZS; Lee CC; Lupski JR
    Genomics; 1997 Jan; 39(1):99-103. PubMed ID: 9027492
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies.
    Silander K; Meretoja P; Juvonen V; Ignatius J; Pihko H; Saarinen A; Wallden T; Herrgård E; Aula P; Savontaus ML
    Hum Mutat; 1998; 12(1):59-68. PubMed ID: 9633821
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Impaired intracellular trafficking is a common disease mechanism of PMP22 point mutations in peripheral neuropathies.
    Naef R; Suter U
    Neurobiol Dis; 1999 Feb; 6(1):1-14. PubMed ID: 10078969
    [TBL] [Abstract][Full Text] [Related]  

  • 29. The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication.
    Timmerman V; Nelis E; Van Hul W; Nieuwenhuijsen BW; Chen KL; Wang S; Ben Othman K; Cullen B; Leach RJ; Hanemann CO
    Nat Genet; 1992 Jun; 1(3):171-5. PubMed ID: 1303230
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Charcot-Marie-Tooth disease and related peripheral neuropathies.
    De Jonghe P; Timmerman V; Nelis E; Martin JJ; Van Broeckhoven C
    J Peripher Nerv Syst; 1997; 2(4):370-87. PubMed ID: 10975746
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Application of multiplex ligation-dependent probe analysis to define a small deletion encompassing PMP22 exons 4 and 5 in hereditary neuropathy with liability to pressure palsies.
    Sutton IJ; Mocroft AP; Lindley VH; Barber RM; Bryon RJ; Winer JB; MacDonald F
    Neuromuscul Disord; 2004 Dec; 14(12):804-9. PubMed ID: 15564036
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: implications for testing in the cytogenetics laboratory.
    Shaffer LG; Kennedy GM; Spikes AS; Lupski JR
    Am J Med Genet; 1997 Mar; 69(3):325-31. PubMed ID: 9096765
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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]  

  • 34. [Hereditary neuropathy with liability to pressure palsies: study of six Spanish families].
    Pou Serradell A; Monells J; Téllez MJ; Fossas P; Löfgren A; Meuleman J; Timmerman V; De Jonghe P; Ceuterick C; Martin JJ
    Rev Neurol (Paris); 2002 May; 158(5 Pt 1):579-88. PubMed ID: 12072826
    [TBL] [Abstract][Full Text] [Related]  

  • 35. The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A.
    Patel PI; Roa BB; Welcher AA; Schoener-Scott R; Trask BJ; Pentao L; Snipes GJ; Garcia CA; Francke U; Shooter EM; Lupski JR; Suter U
    Nat Genet; 1992 Jun; 1(3):159-65. PubMed ID: 1303228
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies.
    Bort S; Nelis E; Timmerman V; Sevilla T; Cruz-Martínez A; Martínez F; Millán JM; Arpa J; Vílchez JJ; Prieto F; Van Broeckhoven C; Palau F
    Hum Genet; 1997 Jun; 99(6):746-54. PubMed ID: 9187667
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Novel PCR-based diagnostic tools for Charcot-Marie-Tooth type 1A and hereditary neuropathy with liability to pressure palsies.
    Stronach EA; Clark C; Bell C; Löfgren A; McKay NG; Timmerman V; Van Broeckhoven C; Haites NE
    J Peripher Nerv Syst; 1999; 4(2):117-22. PubMed ID: 10442687
    [TBL] [Abstract][Full Text] [Related]  

  • 38. 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]  

  • 39. A novel point mutation in PMP22 gene associated with a familial case of Charcot-Marie-Tooth disease type 1A with sensorineural deafness.
    Joo IS; Ki CS; Joo SY; Huh K; Kim JW
    Neuromuscul Disord; 2004 May; 14(5):325-8. PubMed ID: 15099592
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit.
    Pentao L; Wise CA; Chinault AC; Patel PI; Lupski JR
    Nat Genet; 1992 Dec; 2(4):292-300. PubMed ID: 1303282
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 23.