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Volumn 72, Issue 1, 1996, Pages 20-25

Microsatellite mapping of the deletion in patients with hereditary neuropathy with liability to pressure palsies (HNPP): New molecular tools for the study of the region 17p12→p11 and for diagnosis

Author keywords

[No Author keywords available]

Indexed keywords

MICROSATELLITE DNA;

EID: 0030040754     PISSN: 03010171     EISSN: 1424859X     Source Type: Journal    
DOI: 10.1159/000134153     Document Type: Article
Times cited : (14)

References (21)
  • 4
    • 0027972378 scopus 로고
    • Two autosomal dominant neuropathies result from reciprocal DNA duplication/ deletion of a region on chromosome 17
    • Chance PF, Abbas N, Lcnsch NW, Pentao L, Roa BB, Patel PI, Lupski JR: Two autosomal dominant neuropathies result from reciprocal DNA duplication/ deletion of a region on chromosome 17, Hum molec Genet 3:223-228 (1994).
    • (1994) Hum Molec Genet , vol.3 , pp. 223-228
    • Chance, P.F.1    Abbas, N.2    Lcnsch, N.W.3    Pentao, L.4    Roa, B.B.5    Patel, P.I.6    Lupski, J.R.7
  • 5
    • 0028956945 scopus 로고
    • Assignment of microsatellite sequences to the region duplicated in CMT1A (17pl 2): A useful tool for diagnosis
    • Cudrey C, Chevillard C, Le Paslier D, Vignal A, Passage E, Fontes M: Assignment of microsatellite sequences to the region duplicated in CMT1A (17pl 2): a useful tool for diagnosis, J med Genet 32:231-233 (1995).
    • (1995) J Med Genet , vol.32 , pp. 231-233
    • Cudrey, C.1    Chevillard, C.2    Le Paslier, D.3    Vignal, A.4    Passage, E.5    Fontes, M.6
  • 7
    • 0029399637 scopus 로고
    • Clinical, elcctrophvsiological and molecular correlations in 13 families with hereditary neuropathy with liability to pressure palsies and a chromosome 17pl 1.2 deletion
    • press
    • Gouider R, LeGuem E, Gugenheim M, Tardieu S, Maisonobc T, Líger JM, Vallat JM, Agid Y, Bouche P, Brice A: Clinical, elcctrophvsiological and molecular correlations in 13 families with hereditary neuropathy with liability to pressure palsies and a chromosome 17pl 1.2 deletion, Neurology (1995, in press).
    • (1995) Neurology
    • Gouider, R.1    Leguem, E.2    Gugenheim, M.3    Tardieu, S.4    Maisonobc, T.5    Líger, J.M.6    Vallat, J.M.7    Agid, Y.8    Bouche, P.9    Brice, A.10
  • 10
    • 0028872907 scopus 로고
    • A 1.5 Mb deletion in 17p 11.2-p 12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies
    • Lorenzetti D, Parcyson D, Sghirianzoni Angelo, Roa BR, Abbas N, Pandolfo M, Di Donato S, Lupski J: A 1.5 Mb deletion in 17p 11.2-p 12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies, Am J hum Genet 56:91-98 (1995).
    • (1995) Am J Hum Genet , vol.56 , pp. 91-98
    • Lorenzetti, D.1    Parcyson, D.2    Angelo, S.3    Roa, B.R.4    Abbas, N.5    Pandolfo, M.6    Di Donato, S.7    Lupski, J.8
  • 14
    • 0026950937 scopus 로고
    • Two hot spots of recombination in the DMD gene correlate with the deletion prone region
    • Oudel C, Hanauer A, Clemens P, Caskay T, Mandel JL: Two hot spots of recombination in the DMD gene correlate with the deletion prone region, Hum molec Genet 8:599-603 (1992).
    • (1992) Hum Molec Genet , vol.8 , pp. 599-603
    • Oudel, C.1    Hanauer, A.2    Clemens, P.3    Caskay, T.4    Mandel, J.L.5
  • 15
    • 0027017033 scopus 로고
    • Charcot-Marie-Tooth type IA duplication appears to arise from recombination at repeat sequences Hanking the 1.5 Mb monomere unit
    • Pentao L, Wise CA, Chinault AC, Patel PI, Lupski JR: Charcot-Marie-Tooth type IA duplication appears to arise from recombination at repeat sequences Hanking the 1.5 Mb monomere unit, Nature Genet 2:292-300 (1992).
    • (1992) Nature 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
  • 16
    • 0028285133 scopus 로고
    • A sporadic form of hereditary neuropathy with liability to pressure palsies: Clinical, electrodiagnostic, and molecular genetic findings
    • Reisecker R, Leblhuber F, Lexner R, Radner G, Rosenkranz W, Wagner K: A sporadic form of hereditary neuropathy with liability to pressure palsies: clinical, electrodiagnostic, and molecular genetic findings, Neurology 44:753-755 (1994).
    • (1994) Neurology , vol.44 , pp. 753-755
    • Reisecker, R.1    Leblhuber, F.2    Lexner, R.3    Radner, G.4    Rosenkranz, W.5    Wagner, K.6
  • 19
    • 0001215716 scopus 로고
    • Inherited recurrent focal neuropathies
    • Dvck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF, 3rd Ed, Saunders, Philadelphia
    • Windebark AJ: Inherited recurrent focal neuropathies, in Dvck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF (eds): Peripheral Neuropathy, 3rd Ed, pp 1094-1136 (Saunders, Philadelphia 1993).
    • (1993) Peripheral Neuropathy , pp. 1094-1136
    • Windebark, A.J.1
  • 20
    • 0027374931 scopus 로고
    • Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMT1A duplication
    • Wise CA, Garcia CA, Davis SN, Heju Z, Pentao L, Patel PL Lupski JR: Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMT1A duplication, Am J hum Genet 53:853-863 (1993).
    • (1993) Am J Hum Genet , vol.53 , pp. 853-863
    • Wise, C.A.1    Garcia, C.A.2    Davis, S.N.3    Heju, Z.4    Pentao, L.5    Patel Pl Lupski, J.R.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.