BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

210 related articles for article (PubMed ID: 18438698)

  • 1. Increased severity over generations of Charcot-Marie-Tooth disease type 1A.
    Steiner I; Gotkine M; Steiner-Birmanns B; Biran I; Silverstein S; Abeliovich D; Argov Z; Wirguin I
    J Neurol; 2008 Jun; 255(6):813-9. PubMed ID: 18438698
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Severe phenotypes in a Charcot-Marie-Tooth 1A patient with PMP22 triplication.
    Kim SM; Lee J; Yoon BR; Kim YJ; Choi BO; Chung KW
    J Hum Genet; 2015 Feb; 60(2):103-6. PubMed ID: 25500726
    [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. 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]  

  • 6. Genetic epidemiology, demographic, and clinical characteristics of Charcot-Marie-tooth disease in the island of Gran Canaria (Spain).
    Lousa M; Vázquez-Huarte-Mendicoa C; Gutiérrez AJ; Saavedra P; Navarro B; Tugores A
    J Peripher Nerv Syst; 2019 Mar; 24(1):131-138. PubMed ID: 30569560
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Molecular basis of Charcot-Marie-Tooth disease type 1A: gene dosage as a novel mechanism for a common autosomal dominant condition.
    Roa BB; Lupski JR
    Am J Med Sci; 1993 Sep; 306(3):177-84. PubMed ID: 8128981
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Anticipation in a unique family with Charcot-Marie-Tooth syndrome and deafness: delineation of the clinical features and review of the literature.
    Kovach MJ; Campbell KC; Herman K; Waggoner B; Gelber D; Hughes LF; Kimonis VE
    Am J Med Genet; 2002 Apr; 108(4):295-303. PubMed ID: 11920834
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. A novel case of concurrent occurrence of demyelinating-polyneuropathy-causing PMP22 duplication and SOX10 gene mutation producing severe hypertrophic neuropathy.
    Matsuda N; Ootsuki K; Kobayashi S; Nemoto A; Kubo H; Usami SI; Kanani K
    BMC Neurol; 2021 Jun; 21(1):243. PubMed ID: 34171997
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Detection of Charcot-Marie-Tooth type 1A duplication by the polymerase chain reaction.
    Blair IP; Kennerson ML; Nicholson GA
    Clin Chem; 1995 Aug; 41(8 Pt 1):1105-8. PubMed ID: 7628084
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [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]  

  • 18. 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]  

  • 19. Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.
    Yuan B; Harel T; Gu S; Liu P; Burglen L; Chantot-Bastaraud S; Gelowani V; Beck CR; Carvalho CM; Cheung SW; Coe A; Malan V; Munnich A; Magoulas PL; Potocki L; Lupski JR
    Am J Hum Genet; 2015 Nov; 97(5):691-707. PubMed ID: 26544804
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [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]  

    [Next]    [New Search]
    of 11.