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Volumn 3, Issue 3, 1999, Pages 255-258

Prenatal diagnosis of spinal muscular atrophy by direct molecular analysis: Efficacy and potential pitfalls

Author keywords

[No Author keywords available]

Indexed keywords

AMNION FLUID CYTOLOGY; ARTICLE; CHORION VILLUS SAMPLING; CONTAMINATION; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; FETUS; GENE DELETION; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; SPINAL MUSCULAR ATROPHY;

EID: 0032859520     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/109065799316554     Document Type: Article
Times cited : (5)

References (22)
  • 3
    • 0030863569 scopus 로고    scopus 로고
    • When is a deletion not a deletion? When it is converted
    • BURGHES, A.H.M. (1997). When is a deletion not a deletion? When it is converted. Am. J. Hum. Genet. 61, 9-15.
    • (1997) Am. J. Hum. Genet. , vol.61 , pp. 9-15
    • Burghes, A.H.M.1
  • 8
    • 0028785098 scopus 로고
    • Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: Evidence of homozygous deletions of the SMN gene in unaffected individuals
    • HAHNEN, E., FORKERT, R., MARKE, C., RUDNIK-SCHONEBORN, S., SCHONLING, J., ZERRES, K., and WIRTH, B. (1995). Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals. Hum. Mol. Genet. 4, 1927-1933.
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 1927-1933
    • Hahnen, E.1    Forkert, R.2    Marke, C.3    Rudnik-Schoneborn, S.4    Schonling, J.5    Zerres, K.6    Wirth, B.7
  • 11
    • 0028812154 scopus 로고
    • Genes for SMA: Multurn in Parvo
    • LEWIN, B. (1995). Genes for SMA: Multurn In Parvo. Cell 80, 1-5.
    • (1995) Cell , vol.80 , pp. 1-5
    • Lewin, B.1
  • 15
    • 0025299356 scopus 로고
    • Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14. the French Spinal Muscular Atrophy Investigators
    • MELKI, J., SHETH, P., ABDELHAK, S., BURLET, P., BACHELOT, M.F., LATHROP, M.G., FEZAL, J., and MUNNICH, A. (1990b). Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14. The French Spinal Muscular Atrophy Investigators. Lancet 336, 271-273.
    • (1990) Lancet , vol.336 , pp. 271-273
    • Melki, J.1    Sheth, P.2    Abdelhak, S.3    Burlet, P.4    Bachelot, M.F.5    Lathrop, M.G.6    Fezal, J.7    Munnich, A.8
  • 17
    • 0028905919 scopus 로고
    • Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy
    • RODRIGUES, N.R., OWEN, N., TALBOT, K., IGNATIUS, J., DUBOWITZ, V., and DAVIES, K.E. (1995). Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy. Hum. Mol. Genet. 4, 631-634.
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 631-634
    • Rodrigues, N.R.1    Owen, N.2    Talbot, K.3    Ignatius, J.4    Dubowitz, V.5    Davies, K.E.6
  • 19
    • 0028206815 scopus 로고
    • Autosomal recessive proximal spinal muscular atrophy in 101 sibs out of 48 families: Clinical picture, influence of gender, and genetic implications
    • RUDNIK-SCHONEBORN, S., ROHRIG, D., MORGAN, G., WIRTH, B., and ZERRES, K. (1994). Autosomal recessive proximal spinal muscular atrophy in 101 sibs out of 48 families: Clinical picture, influence of gender, and genetic implications. Am. J. Med. Genet. 51, 70-76.
    • (1994) Am. J. Med. Genet. , vol.51 , pp. 70-76
    • Rudnik-Schoneborn, S.1    Rohrig, D.2    Morgan, G.3    Wirth, B.4    Zerres, K.5
  • 22
    • 0029034444 scopus 로고
    • Prenatal prediction in families with autosomal recessive proximal spinal muscular atrophy (5q11.2-q13.3): Molecular genetics and clinical experience in 109 cases
    • WIRTH, B., RUDNIK-SCHONEBORN, S., HAHNEN, E., ROHRIG, D., and ZERRES, K. (1995). Prenatal prediction in families with autosomal recessive proximal spinal muscular atrophy (5q11.2-q13.3): Molecular genetics and clinical experience in 109 cases. Prenat. Diagn. 15, 407-417.
    • (1995) Prenat. Diagn. , vol.15 , pp. 407-417
    • Wirth, B.1    Rudnik-Schoneborn, S.2    Hahnen, E.3    Rohrig, D.4    Zerres, K.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.