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Volumn 13, Issue 1, 2011, Pages 3-6

Population carrier screening for spinal muscular atrophy: A position statement of the association for molecular pathology

Author keywords

[No Author keywords available]

Indexed keywords

AUTOSOMAL RECESSIVE DISORDER; ETHNICITY; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; SHORT SURVEY; SPINAL MUSCULAR ATROPHY;

EID: 78651109303     PISSN: 15251578     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jmoldx.2010.11.012     Document Type: Short Survey
Times cited : (26)

References (14)
  • 1
    • 78651101562 scopus 로고    scopus 로고
    • Spinal muscular atrophy: Molecular genetics and diagnostics
    • Ogino S and Wilson RB: Spinal muscular atrophy: molecular genetics and diagnostics. Expert Rev Mol Diagn 2004, 111:477-500
    • (2004) Expert Rev Mol Diagn , vol.111 , pp. 477-500
    • Ogino, S.1    Wilson, R.B.2
  • 2
    • 78650115906 scopus 로고    scopus 로고
    • Perspective and diagnostic considerations in spinal muscular atrophy
    • Prior TW: Perspective and diagnostic considerations in spinal muscular atrophy. Genet Med 2010, 12:145-152
    • (2010) Genet Med , vol.12 , pp. 145-152
    • Prior, T.W.1
  • 3
    • 45249106162 scopus 로고    scopus 로고
    • Spinal muscular atrophy
    • Lunn MR, Wang CH: Spinal muscular atrophy. Lancet 2008, 371:220-233
    • (2008) Lancet , vol.371 , pp. 220-233
    • Lunn, M.R.1    Wang, C.H.2
  • 4
    • 57449107362 scopus 로고    scopus 로고
    • Carrier screening for spinal muscular atrophy
    • Prior TW: Carrier screening for spinal muscular atrophy. Gen Med 2008, 10:840-842
    • (2008) Gen Med , vol.10 , pp. 840-842
    • Prior, T.W.1
  • 5
    • 10044220623 scopus 로고    scopus 로고
    • New insights into the evolution of the SMN1 and SMN2 region: Simulation and meta-analysis for allele and haplotype frequency calculations
    • Ogino S, Wilson RB, Gold B: New insights into the evolution of the SMN1 and SMN2 region: simulation and meta-analysis for allele and haplotype frequency calculations. Eur J Hum Genet 2004, 12:1015-1023
    • (2004) Eur J Hum Genet , vol.12 , pp. 1015-1023
    • Ogino, S.1    Wilson, R.B.2    Gold, B.3
  • 7
    • 0030782363 scopus 로고    scopus 로고
    • De novo rearrangements found in 2% of index patients with spinal muscular atrophy: Mutational mechanisms, parental origin, mutation rate, and implications for genetic counseling
    • Wirth B, Schmidt T, Hahnen E, Rudnik-Schöneborn S, Krawczak M, Müller-Myhsok B, Schönling J, Zerres K: De novo rearrangements found in 2% of index patients with spinal muscular atrophy: mutational mechanisms, parental origin, mutation rate, and implications for genetic counseling. Am J Hum Genet 1997, 61:1102-1111
    • (1997) Am J Hum Genet , vol.61 , pp. 1102-1111
    • Wirth, B.1    Schmidt, T.2    Hahnen, E.3    Rudnik-Schöneborn, S.4    Krawczak, M.5    Müller-Myhsok, B.6    Schönling, J.7    Zerres, K.8
  • 8
    • 54949144695 scopus 로고    scopus 로고
    • Carrier frequency of spinal muscular atrophy
    • Wilson RB, Ogino S: Carrier frequency of spinal muscular atrophy. Lancet 2008, 1:1542
    • (2008) Lancet , vol.1 , pp. 1542
    • Wilson, R.B.1    Ogino, S.2
  • 9
    • 66149090002 scopus 로고    scopus 로고
    • ACOG Committee opinion No. 432: Spinal muscular atrophy
    • Committee on Genetics
    • Committee on Genetics: ACOG Committee opinion No. 432: spinal muscular atrophy. Obstet Gynec 2009, 5:1194-1196
    • (2009) Obstet Gynec , vol.5 , pp. 1194-1196
  • 10
    • 65949098420 scopus 로고    scopus 로고
    • Grading quality of evidence and strength of recommendations for diagnostics tests and strategies
    • Horvath AR: Grading quality of evidence and strength of recommendations for diagnostics tests and strategies. Clin Chem 2009, 55:853-855
    • (2009) Clin Chem , vol.55 , pp. 853-855
    • Horvath, A.R.1
  • 14
    • 0036942226 scopus 로고    scopus 로고
    • Genetic testing and risk assessment for spinal muscular atrophy (SMA)
    • DOI 10.1007/s00439-002-0828-x
    • Ogino S, Wilson RB: Genetic testing and risk assessment for spinal muscular atrophy (SMA). Hum Genet 2002, 111:477-500 (Pubitemid 36075081)
    • (2002) Human Genetics , vol.111 , Issue.6 , pp. 477-500
    • Ogino, S.1    Wilson, R.B.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.