BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

167 related articles for article (PubMed ID: 8099303)

  • 1. Charcot-Marie-Tooth neuropathy type 1A with both duplication and non-duplication.
    Ionasescu VV; Ionasescu R; Searby C; Barker DF
    Hum Mol Genet; 1993 Apr; 2(4):405-10. PubMed ID: 8099303
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Is the duplication present in all family members affected with Charcot-Marie-Tooth neuropathy type 1 A?
    Ionăşescu V; Ionăşescu G; Searby C; Barker DF
    Rom J Neurol Psychiatry; 1993; 31(3-4):179-87. PubMed ID: 8011481
    [TBL] [Abstract][Full Text] [Related]  

  • 3. [Phenotypic heterogeneity in Japanese Charcot-Marie-Tooth disease type 1A patients with PMP-22 gene duplication].
    Yamamoto M; Sobue G; Yasuda T; Yamamoto K; Kumazawa K; Mitsuma T
    Rinsho Shinkeigaku; 1995 Oct; 35(10):1085-91. PubMed ID: 8821490
    [TBL] [Abstract][Full Text] [Related]  

  • 4. The duplication in Charcot-Marie-Tooth disease type 1a spans at least 1100 kb on chromosome 17p11.2.
    Hoogendijk JE; Hensels GW; Zorn I; Valentijn L; Janssen EA; de Visser M; Barker DF; Ongerboer de Visser BW; Baas F; Bolhuis PA
    Hum Genet; 1991 Dec; 88(2):215-8. PubMed ID: 1721895
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication.
    Wise CA; Garcia CA; Davis SN; Heju Z; Pentao L; Patel PI; Lupski JR
    Am J Hum Genet; 1993 Oct; 53(4):853-63. PubMed ID: 8105684
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Duplication within chromosome 17p11.2 in 12 families of French ancestry with Charcot-Marie-Tooth disease type 1a. The French CMT Research Group.
    Brice A; Ravisé N; Stevanin G; Gugenheim M; Bouche P; Penet C; Agid Y
    J Med Genet; 1992 Nov; 29(11):807-12. PubMed ID: 1453432
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group.
    Raeymaekers P; Timmerman V; Nelis E; Van Hul W; De Jonghe P; Martin JJ; Van Broeckhoven C
    J Med Genet; 1992 Jan; 29(1):5-11. PubMed ID: 1552545
    [TBL] [Abstract][Full Text] [Related]  

  • 8. [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]  

  • 9. 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]  

  • 10. The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A.
    Valentijn LJ; Bolhuis PA; Zorn I; Hoogendijk JE; van den Bosch N; Hensels GW; Stanton VP; Housman DE; Fischbeck KH; Ross DA
    Nat Genet; 1992 Jun; 1(3):166-70. PubMed ID: 1303229
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A.
    Matsunami N; Smith B; Ballard L; Lensch MW; Robertson M; Albertsen H; Hanemann CO; Müller HW; Bird TD; White R
    Nat Genet; 1992 Jun; 1(3):176-9. PubMed ID: 1303231
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A.
    Valentijn LJ; Baas F; Wolterman RA; Hoogendijk JE; van den Bosch NH; Zorn I; Gabreëls-Festen AW; de Visser M; Bolhuis PA
    Nat Genet; 1992 Dec; 2(4):288-91. PubMed ID: 1303281
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies.
    Lorenzetti D; Pareyson D; Sghirlanzoni A; Roa BB; Abbas NE; Pandolfo M; Di Donato S; Lupski JR
    Am J Hum Genet; 1995 Jan; 56(1):91-8. PubMed ID: 7825607
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Screening of the 17p11.2--p12 region in a large cohort of patients with Charcot-Marie-Tooth (CMT) disease or hereditary neuropathy with liability to pressure palsies (HNPP).
    Kabzinska D; Pierscinska J; Kochanski A
    J Appl Genet; 2009; 50(3):283-8. PubMed ID: 19638685
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [The diagnosis and prevalence of locus CMT1A duplication in Charcot-Marie-Tooth disease type 1].
    Bort S; Sevilla T; Vílchez JJ; Prieto F; Palau F
    Med Clin (Barc); 1995 May; 104(17):648-52. PubMed ID: 7623491
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. DNA duplication associated with Charcot-Marie-Tooth disease type 1A.
    Lupski JR; de Oca-Luna RM; Slaugenhaupt S; Pentao L; Guzzetta V; Trask BJ; Saucedo-Cardenas O; Barker DF; Killian JM; Garcia CA; Chakravarti A; Patel PI
    Cell; 1991 Jul; 66(2):219-32. PubMed ID: 1677316
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 9.