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Volumn 10, Issue 1, 2006, Pages 18-23

Detection of spinal muscular atrophy carriers by nested polymerase chain reaction of single sperm cells

Author keywords

[No Author keywords available]

Indexed keywords

RESTRICTION ENDONUCLEASE;

EID: 33645361728     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/gte.2006.10.18     Document Type: Article
Times cited : (4)

References (15)
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    • 0036154959 scopus 로고    scopus 로고
    • Quantitative analyses of SMN1 and SMN2 based on real-time light-Cycler PCR: Fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy
    • Feldkotter M, Schwarzer V, Wirth R, Wienker TF, Wirth B (2002) Quantitative analyses of SMN1 and SMN2 based on real-time light-Cycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy. Am J Hum Genet 70:358-368.
    • (2002) Am J Hum Genet , vol.70 , pp. 358-368
    • Feldkotter, M.1    Schwarzer, V.2    Wirth, R.3    Wienker, T.F.4    Wirth, B.5
  • 7
    • 0036098080 scopus 로고    scopus 로고
    • SMN dosage analysis and risk assessment for spinal muscular atrophy
    • Ogino S, Wilson RB (2002) SMN dosage analysis and risk assessment for spinal muscular atrophy [Letters to the Editor]. Am J Hum Genet 70:1596-1599.
    • (2002) Am J Hum Genet , vol.70 , pp. 1596-1599
    • Ogino, S.1    Wilson, R.B.2
  • 8
    • 0018906764 scopus 로고
    • Classification of spinal muscular atrophies
    • Pearn J (1980) Classification of spinal muscular atrophies. Lancet 1:919-922.
    • (1980) Lancet , vol.1 , pp. 919-922
    • Pearn, J.1
  • 10
    • 0034026614 scopus 로고    scopus 로고
    • SMA carrier testing-validation of hemizygous SMN exon 7 deletion test for the identification of proximal spinal muscular atrophy carriers and patients with a single allele deletion
    • Scheffer H, Cobben JM, Mensink RG, Stulp RP, van der Steege G, Buys CH (2000) SMA carrier testing-validation of hemizygous SMN exon 7 deletion test for the identification of proximal spinal muscular atrophy carriers and patients with a single allele deletion. Eur J Hum Genet 8:79-86.
    • (2000) Eur J Hum Genet , vol.8 , pp. 79-86
    • Scheffer, H.1    Cobben, J.M.2    Mensink, R.G.3    Stulp, R.P.4    Van Der Steege, G.5    Buys, C.H.6
  • 12
    • 34548083288 scopus 로고    scopus 로고
    • Detection of homozygous and heterozygous SMN deletions of spinal muscular atrophy in a single assay with multiplex ligation-dependent probe amplification
    • Tomaszewicz K, Kang P, Wu BL (2005) Detection of homozygous and heterozygous SMN deletions of spinal muscular atrophy in a single assay with multiplex ligation-dependent probe amplification. Beijing Da Xue Xue Bao 37:55-57.
    • (2005) Beijing Da Xue Xue Bao , vol.37 , pp. 55-57
    • Tomaszewicz, K.1    Kang, P.2    Wu, B.L.3
  • 15
    • 0033358719 scopus 로고    scopus 로고
    • Quantitative analysis of survival motor neuron copies: Identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling
    • Wirth B, Herz M, Wetter A, Moskau S, Hahnen E, Rudnik-Schoneborn S, Wienker T, Zerres K (1999) Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling. Am J Hum Genet 64:1340-1356.
    • (1999) Am J Hum Genet , vol.64 , pp. 1340-1356
    • Wirth, B.1    Herz, M.2    Wetter, A.3    Moskau, S.4    Hahnen, E.5    Rudnik-Schoneborn, S.6    Wienker, T.7    Zerres, K.8


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.