BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

119 related articles for article (PubMed ID: 1552540)

  • 1. Charcot-Marie-Tooth disease type 1.
    Malcolm S
    J Med Genet; 1992 Jan; 29(1):3-4. PubMed ID: 1552540
    [No Abstract]   [Full Text] [Related]  

  • 2. Alternatively sized duplication in Charcot-Marie-Tooth disease type 1A.
    Valentijn LJ; Baas F; Zorn I; Hensels GW; de Visser M; Bolhuis PA
    Hum Mol Genet; 1993 Dec; 2(12):2143-6. PubMed ID: 8111385
    [No Abstract]   [Full Text] [Related]  

  • 3. Charcot-Marie-Tooth disease in northern Sweden: pedigree analysis and the presence of the duplication in chromosome 17p11.2.
    Holmberg BH; Holmgren G; Nelis E; van Broeckhoven C; Westerberg B
    J Med Genet; 1994 Jun; 31(6):435-41. PubMed ID: 8071969
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Dose response in Charcot-Marie-Tooth disease.
    Nat Genet; 1992 Jun; 1(3):153-4. PubMed ID: 1303224
    [No Abstract]   [Full Text] [Related]  

  • 6. 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]  

  • 7. Misclassification and linkage of hereditary sensory and autonomic neuropathy type 1 as Charcot-Marie-Tooth disease, type 2B.
    Vance JM; Speer MC; Stajich JM; West S; Wolpert C; Gaskell P; Lennon F; Tim RM; Rozear M; Othmane KB
    Am J Hum Genet; 1996 Jul; 59(1):258-62. PubMed ID: 8659534
    [No Abstract]   [Full Text] [Related]  

  • 8. 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]  

  • 9. Charcot-Marie-Tooth (CMT) 1a duplication at 17p11.2 in Italian families.
    Bellone E; Mandich P; Mancardi GL; Schenone A; Uccelli A; Abbruzzese M; Sghirlanzoni A; Pareyson D; Ajmar F
    J Med Genet; 1992 Jul; 29(7):492-3. PubMed ID: 1640430
    [No Abstract]   [Full Text] [Related]  

  • 10. Charcot-Marie-Tooth disease type 1A, 9 November 1992, San Francisco, CA, U.S.A.
    Fischbeck KH
    Neuromuscul Disord; 1993 Jan; 3(1):81-2. PubMed ID: 8329893
    [No Abstract]   [Full Text] [Related]  

  • 11. [Contribution of molecular genetics to the diagnosis of Charcot-Marie-Tooth disease].
    Goldber-Stern H; Navon R; Gadoth N
    Harefuah; 1995 Jun; 128(11):700-3. PubMed ID: 7557669
    [No Abstract]   [Full Text] [Related]  

  • 12. New allele of probe D17S61 present in the Charcot-Marie-Tooth 1A duplication.
    Bost M; Bonnebouche C; Gonnaud PM; Cochat P; Gilbert B; Dupont C; Chazot G; Vandenberghe A
    Clin Genet; 1994 Nov; 46(5):380-1. PubMed ID: 7889651
    [No Abstract]   [Full Text] [Related]  

  • 13. Charcot-Marie-Tooth disease type 1a (CMT1a): evidence for trisomy of the region p11.2 of chromosome 17 in south Wales families.
    MacMillan JC; Upadhyaya M; Harper PS
    J Med Genet; 1992 Jan; 29(1):12-3. PubMed ID: 1552536
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Molecular characterization of Charcot-Marie-Tooth patients in 15 pedigrees from France.
    Lucotte G; Berriche S; Bathelier C; Turpin JC; Jacob P; Paquet JM; Pluot M; Vandenberghe A
    Genet Couns; 1995; 6(4):355-60. PubMed ID: 8775423
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Prenatal diagnosis of Charcot-Marie-Tooth disease.
    Lebo RV
    Prenat Diagn; 1998 Feb; 18(2):169-72. PubMed ID: 9516018
    [No Abstract]   [Full Text] [Related]  

  • 18. Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A by multicolor in situ hybridization.
    Lebo RV; Martelli L; Su Y; Li L; Lynch E; Mansfield E; Pua KH; Watson DF; Chueh J; Hurko O
    Am J Med Genet; 1993 Sep; 47(3):441-50. PubMed ID: 8135298
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Inherited primary peripheral neuropathies. Molecular genetics and clinical implications of CMT1A and HNPP.
    Lupski JR; Chance PF; Garcia CA
    JAMA; 1993 Nov; 270(19):2326-30. PubMed ID: 8230595
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 6.