메뉴 건너뛰기




Volumn 97, Issue 1, 1996, Pages 69-72

A clinical and molecular study of mosaicism for trisomy 17

Author keywords

[No Author keywords available]

Indexed keywords

DNA MARKER;

EID: 0030033537     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF00218835     Document Type: Article
Times cited : (40)

References (23)
  • 1
    • 0000901401 scopus 로고
    • 46,XY/47,XY,+17 mosaicism in a newborn with severe malformations
    • Bullerdiek J, Bartnitzke S (1982) 46,XY/47,XY,+17 mosaicism in a newborn with severe malformations. Hum Genet 60:296
    • (1982) Hum Genet , vol.60 , pp. 296
    • Bullerdiek, J.1    Bartnitzke, S.2
  • 3
    • 0027972378 scopus 로고
    • Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17
    • Chance PF, Abbas N, Lensch MW, Pentao L, Roa BB, Patel PI, Lupski JR (1994) Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17. Hum Mol Genet 3:223-228
    • (1994) Hum Mol Genet , vol.3 , pp. 223-228
    • Chance, P.F.1    Abbas, N.2    Lensch, M.W.3    Pentao, L.4    Roa, B.B.5    Patel, P.I.6    Lupski, J.R.7
  • 4
    • 0025878403 scopus 로고
    • Mosaic trisomy 17 in amniotic fluid cells not confirmed in the newborn
    • Djalali M, Barbi G, Grab D (1991) Mosaic trisomy 17 in amniotic fluid cells not confirmed in the newborn. Prenat Diagn 11: 399-402
    • (1991) Prenat Diagn , vol.11 , pp. 399-402
    • Djalali, M.1    Barbi, G.2    Grab, D.3
  • 9
    • 0027518166 scopus 로고
    • Nerve conduction studies in Charcot-Marie-Tooth poly neuropathy associated with a segmental duplication of chromosome 17
    • Kaku DA, Parry GJ, Malamut R, Lupski JR, Garcia CA (1993) Nerve conduction studies in Charcot-Marie-Tooth poly neuropathy associated with a segmental duplication of chromosome 17, Neurology 43:1806-1808
    • (1993) Neurology , vol.43 , pp. 1806-1808
    • Kaku, D.A.1    Parry, G.J.2    Malamut, R.3    Lupski, J.R.4    Garcia, C.A.5
  • 11
    • 0001910626 scopus 로고
    • Charcot-Marie-Tooth polyneuropathy syndrome: Clinical, electrophysiological, and genetic aspects
    • Appel S (ed) Mosby-Yearbook, Chicago
    • Lupski JR, Garcia CA, Parry GJ, Patel PI (1991b) Charcot-Marie-Tooth polyneuropathy syndrome: clinical, electrophysiological, and genetic aspects. In: Appel S (ed) Current neurology. Mosby-Yearbook, Chicago, pp 1-25
    • (1991) Current Neurology , pp. 1-25
    • Lupski, J.R.1    Garcia, C.A.2    Parry, G.J.3    Patel, P.I.4
  • 13
    • 0027366552 scopus 로고
    • Inherited primary peripheral neuropathies: Molecular genetics and clinical implications of CMT1A and HNPP
    • Lupski JR, Chance PF, Garcia CA (1993) Inherited primary peripheral neuropathies: Molecular genetics and clinical implications of CMT1A and HNPP. JAMA 270:2326-2330
    • (1993) JAMA , vol.270 , pp. 2326-2330
    • Lupski, J.R.1    Chance, P.F.2    Garcia, C.A.3
  • 15
    • 0028231331 scopus 로고
    • Charcot-Marie-Tooth disease: A new paradigm for the mechanism of inherited disease
    • Patel PI, Lupski JR (1994) Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease. Trends Genet 10:128-133
    • (1994) Trends Genet , vol.10 , pp. 128-133
    • Patel, P.I.1    Lupski, J.R.2
  • 17
    • 0027722433 scopus 로고
    • Gene dosage as a mechanism for a common autosomal dominant peripheral neuropathy: Charcot-Marie-Tooth disease type IA. (The phenotypic mapping of Down syndrome and other aneuploid conditions)
    • Roa BB, Garcia CA, Wise CA, Anderson K, Greenberg F, Patel PI. Lupski JR (1993) Gene dosage as a mechanism for a common autosomal dominant peripheral neuropathy: Charcot-Marie-Tooth disease type IA. (The phenotypic mapping of Down syndrome and other aneuploid conditions) Prog Clin Biol Res 384:187-205
    • (1993) Prog Clin Biol Res , vol.384 , pp. 187-205
    • Roa, B.B.1    Garcia, C.A.2    Wise, C.A.3    Anderson, K.4    Greenberg, F.5    Patel, P.I.6    Lupski, J.R.7
  • 18
    • 0027160691 scopus 로고
    • Genetic syndromes and uniparental disomy: A study of 16 cases of Brachmann-de Lange syndrome
    • Shaffer LG, Overhauser J, Jackson L, Ledbetter DH (1993) Genetic syndromes and uniparental disomy: a study of 16 cases of Brachmann-de Lange syndrome. Am J Med Genet 47:383-386
    • (1993) Am J Med Genet , vol.47 , pp. 383-386
    • Shaffer, L.G.1    Overhauser, J.2    Jackson, L.3    Ledbetter, D.H.4
  • 20
    • 0021278927 scopus 로고
    • New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13
    • Stratton RF, Dobyns WB, Airhart SD, Ledbetter DH (1984) New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13. Hum Genet 67:193-200
    • (1984) Hum Genet , vol.67 , pp. 193-200
    • Stratton, R.F.1    Dobyns, W.B.2    Airhart, S.D.3    Ledbetter, D.H.4
  • 23
    • 0027374931 scopus 로고
    • Molecular analysis of unrelated Charcot-Marie-Tooth (CMT) disease patients suggests a high frequency of the CMT la duplication
    • Wise CA, Garcia CA, Davis SN, Heju Z, Pentao L, Patel PI, Lupski JR (1993) Molecular analysis of unrelated Charcot-Marie-Tooth (CMT) disease patients suggests a high frequency of the CMT LA duplication. Am J Hum Genet 53:853-863
    • (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, P.I.6    Lupski, J.R.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.