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Volumn 34, Issue 1, 1997, Pages 43-49

Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent

Author keywords

CMT; HNPP; Recombination hotspot

Indexed keywords

DNA FRAGMENT;

EID: 16944365439     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.34.1.43     Document Type: Article
Times cited : (61)

References (16)
  • 1
    • 0001046663 scopus 로고
    • Hereditary motor and sensory neuropathies
    • Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF, eds. Philadelphia: Saunders
    • Dyck PJ, Chance PE, Lebo RV, Carney JA. Hereditary motor and sensory neuropathies. In: Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF, eds. Peripheral neuropathy. Philadelphia: Saunders, 1993:1094-136.
    • (1993) Peripheral Neuropathy , pp. 1094-1136
    • Dyck, P.J.1    Chance, P.E.2    Lebo, R.V.3    Carney, J.A.4
  • 2
    • 0001215716 scopus 로고
    • Inherited recurrent focal neuropathies
    • Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF, eds. Philadelphia: Saunders
    • Windebank AJ. Inherited recurrent focal neuropathies. In: Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF, eds. Peripheral neuropathy. Philadelphia: Saunders, 1993: 1137-148.
    • (1993) Peripheral Neuropathy , pp. 1137-1148
    • Windebank, A.J.1
  • 3
    • 0029058673 scopus 로고
    • From the syndrome of Charcot-Marie-Tooth to disorders of peripheral myelin proteins
    • Harding AE. From the syndrome of Charcot-Marie-Tooth to disorders of peripheral myelin proteins. Brain 1995; 118:809-18.
    • (1995) Brain , vol.118 , pp. 809-818
    • Harding, A.E.1
  • 4
    • 0025997898 scopus 로고
    • Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a(CMT 1a)
    • Raeymaekers P, Timmerman V, Nelis E, et al and the HMSN Collaborative Research Group. Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a(CMT 1a). Neuromusc Disord 1991;1:93-7.
    • (1991) Neuromusc Disord , vol.1 , pp. 93-97
    • Raeymaekers, P.1    Timmerman, V.2    Nelis, E.3
  • 5
    • 0026564694 scopus 로고
    • Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a)
    • Raeymaekers P, Timmerman V, Nelis E, et al and the HMSN Collaborative Research Group. Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). J Med Genet 1992; 29:5-11.
    • (1992) J Med Genet , vol.29 , pp. 5-11
    • Raeymaekers, P.1    Timmerman, V.2    Nelis, E.3
  • 6
    • 0025868571 scopus 로고
    • DNA duplication associated with Charcot-Marie-Tooth disease type 1a
    • Lupski JR, Montes de Oca-Luna R, Slaugenhaupt S, et al. DNA duplication associated with Charcot-Marie-Tooth disease type 1a. Cell 1991;66:219-32.
    • (1991) Cell , vol.66 , pp. 219-232
    • Lupski, J.R.1    Montes De Oca-Luna, R.2    Slaugenhaupt, S.3
  • 7
    • 0027017033 scopus 로고
    • Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5Mb monomere unit
    • Pentao L, Wise CA, Chinault AC, Patel PI, Lupski JR. Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5Mb monomere unit. Nat Genet 1992;2:292-300.
    • (1992) Nat Genet , vol.2 , pp. 292-300
    • Pentao, L.1    Wise, C.A.2    Chinault, A.C.3    Patel, P.I.4    Lupski, J.R.5
  • 8
    • 0027509953 scopus 로고
    • DNA deletion associated with hereditary neuropathy with liability to pressure palsies
    • Chance PF, Alderson MK, Leppig KA, et al. DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell 1993;72:143-51.
    • (1993) Cell , vol.72 , pp. 143-151
    • Chance, P.F.1    Alderson, M.K.2    Leppig, K.A.3
  • 9
    • 0027972378 scopus 로고
    • Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17
    • Chance PF, Abbas N, Lensch NW, et al. Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17. Hum Mol Genet 1994;3:223-8.
    • (1994) Hum Mol Genet , vol.3 , pp. 223-228
    • Chance, P.F.1    Abbas, N.2    Lensch, N.W.3
  • 10
    • 0027976968 scopus 로고
    • Detection of deletion within 17p11.2 in 7 French families with hereditary neuropathy with liability to pressure palsies (HNPP)
    • LeGuern E, Sturz F, Gugenheim M, et al. Detection of deletion within 17p11.2 in 7 French families with hereditary neuropathy with liability to pressure palsies (HNPP). Cytogenet Cell Genet 1994;65:261-1.
    • (1994) Cytogenet Cell Genet , vol.65 , pp. 261-261
    • LeGuern, E.1    Sturz, F.2    Gugenheim, M.3
  • 11
    • 0028872907 scopus 로고
    • A 15 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, et al. A 15 Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies. Am J Hum Genet 1995;56:91-8.
    • (1995) Am J Hum Genet , vol.56 , pp. 91-98
    • Lorenzetti, D.1    Pareyson, D.2    Sghirlanzoni, A.3
  • 12
    • 0029863589 scopus 로고    scopus 로고
    • Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: A European collaborative study
    • Nelis E, Van Broeckhoven C. Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study. Eur J Hum Genet 1996;4: 25-33.
    • (1996) Eur J Hum Genet , vol.4 , pp. 25-33
    • Nelis, E.1    Van Broeckhoven, C.2
  • 13
    • 0026879838 scopus 로고
    • 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, et al. Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A. Nat Genet 1992;1:176-9.
    • (1992) Nat Genet , vol.1 , pp. 176-179
    • Matsunami, N.1    Smith, B.2    Ballard, L.3
  • 14
    • 0026879614 scopus 로고
    • 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, et al. The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A. Nat Genet 1992;1: 159-65.
    • (1992) Nat Genet , vol.1 , pp. 159-165
    • Patel, P.I.1    Roa, B.B.2    Welcher, A.A.3
  • 15
    • 0026879615 scopus 로고
    • 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, et al. The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication. Nat Genet 1992:1:171-5.
    • (1992) Nat Genet , vol.1 , pp. 171-175
    • Timmerman, V.1    Nelis, E.2    Van Hul, W.3
  • 16
    • 0026879648 scopus 로고
    • The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A
    • Valentijn LJ, Bolhuis PA, Zorn I, et al. The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A. Nat Genet 1992;1:166-70.
    • (1992) Nat Genet , vol.1 , pp. 166-170
    • Valentijn, L.J.1    Bolhuis, P.A.2    Zorn, I.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.