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Volumn 14, Issue 10, 2012, Pages 877-882

Diagnostic approaches to apparent homozygosity

Author keywords

allele dropout; apparent homozygosity; array CGH; autosomal recessive; SNP array

Indexed keywords

ALGORITHM; ALLELE; ARTICLE; DIAGNOSTIC PROCEDURE; GENE DOSAGE; GENETIC SCREENING; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; LABORATORY TEST; MOLECULAR DYNAMICS; MUTATIONAL ANALYSIS; POINT MUTATION; SANGER SEQUENCE; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; UNIPARENTAL DISOMY;

EID: 84867216418     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2012.58     Document Type: Article
Times cited : (32)

References (14)
  • 1
    • 78349301287 scopus 로고    scopus 로고
    • The first three years of screening for medium chain acyl-CoA dehydrogenase deficiency (MCADD) by newborn screening ontario
    • Kennedy S, Potter BK, Wilson K, et al. The first three years of screening for medium chain acyl-CoA dehydrogenase deficiency (MCADD) by newborn screening ontario. BMC Pediatr 2010;10:82.
    • (2010) BMC Pediatr , vol.10 , pp. 82
    • Kennedy, S.1    Potter, B.K.2    Wilson, K.3
  • 2
    • 77953020257 scopus 로고    scopus 로고
    • Allelic diversity in MCAD deficiency: The biochemical classification of 54 variants identified during 5 years of ACADM sequencing
    • Smith EH, Thomas C, McHugh D, et al. Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing. Mol Genet Metab 2010;100:241-250.
    • (2010) Mol Genet Metab , vol.100 , pp. 241-250
    • Smith, E.H.1    Thomas, C.2    McHugh, D.3
  • 3
    • 0036258208 scopus 로고    scopus 로고
    • Cystic fibrosis: A worldwide analysis of CFTR mutations-correlation with incidence data and application to screening
    • Bobadilla JL, Macek M Jr, Fine JP, Farrell PM. Cystic fibrosis: a worldwide analysis of CFTR mutations-correlation with incidence data and application to screening. Hum Mutat 2002;19:575-606.
    • (2002) Hum Mutat , vol.19 , pp. 575-606
    • Bobadilla, J.L.1    Macek Jr., M.2    Fine, J.P.3    Farrell, P.M.4
  • 5
    • 67149083352 scopus 로고    scopus 로고
    • Apparent homozygosity of a novel frame shift mutation in the CFTR gene because of a large deletion
    • Hantash FM, Rebuyon A, Peng M, Redman JB, Sun W, Strom CM. Apparent homozygosity of a novel frame shift mutation in the CFTR gene because of a large deletion. J Mol Diagn 2009;11:253-256.
    • (2009) J Mol Diagn , vol.11 , pp. 253-256
    • Hantash, F.M.1    Rebuyon, A.2    Peng, M.3    Redman, J.B.4    Sun, W.5    Strom, C.M.6
  • 6
    • 33644514003 scopus 로고    scopus 로고
    • Allele dropout in PCR-based diagnosis of Wilson disease: Mechanisms and solutions
    • Lam CW, Mak CM. Allele dropout in PCR-based diagnosis of Wilson disease: mechanisms and solutions. Clin Chem 2006;52:517-520.
    • (2006) Clin Chem , vol.52 , pp. 517-520
    • Lam, C.W.1    Mak, C.M.2
  • 7
    • 36849078874 scopus 로고    scopus 로고
    • Allelic drop-out in the LDLR gene affects mutation detection in familial hypercholesterolemia
    • Laios E, Glynou K. Allelic drop-out in the LDLR gene affects mutation detection in familial hypercholesterolemia. Clin Biochem 2008;41:38-40.
    • (2008) Clin Biochem , vol.41 , pp. 38-40
    • Laios, E.1    Glynou, K.2
  • 8
    • 79960892330 scopus 로고    scopus 로고
    • Expanded molecular features of carnitine acyl-carnitine translocase (CACT) deficiency by comprehensive molecular analysis
    • Wang GL, Wang J, Douglas G, et al. Expanded molecular features of carnitine acyl-carnitine translocase (CACT) deficiency by comprehensive molecular analysis. Mol Genet Metab 2011;103:349-357.
    • (2011) Mol Genet Metab , vol.103 , pp. 349-357
    • Wang, G.L.1    Wang, J.2    Douglas, G.3
  • 9
    • 79956274753 scopus 로고    scopus 로고
    • Utilization of targeted array comparative genomic hybridization, MitoMet, in prenatal diagnosis of metabolic disorders
    • Landsverk ML, Wang J, Schmitt ES, Pursley AN, Wong LJ. Utilization of targeted array comparative genomic hybridization, MitoMet, in prenatal diagnosis of metabolic disorders. Mol Genet Metab 2011;103:148-152.
    • (2011) Mol Genet Metab , vol.103 , pp. 148-152
    • Landsverk, M.L.1    Wang, J.2    Schmitt, E.S.3    Pursley, A.N.4    Wong, L.J.5
  • 10
    • 84255188649 scopus 로고    scopus 로고
    • Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysis
    • Douglas GV, Wiszniewska J, Lipson MH, et al. Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysis. J Hum Genet 2011;56:834-839.
    • (2011) J Hum Genet , vol.56 , pp. 834-839
    • Douglas, G.V.1    Wiszniewska, J.2    Lipson, M.H.3
  • 11
    • 84857064069 scopus 로고    scopus 로고
    • Extended newborn screening: An update for the general paediatrician
    • Coman D, Bhattacharya K. Extended newborn screening: an update for the general paediatrician. J Paediatr Child Health 2012;48:E68-E72.
    • (2012) J Paediatr Child Health , vol.48
    • Coman, D.1    Bhattacharya, K.2
  • 12
    • 60749128990 scopus 로고    scopus 로고
    • Recent decline in nonpaternity rates: A cross-temporal meta-analysis
    • Voracek M, Haubner T, Fisher ML. Recent decline in nonpaternity rates: a cross-temporal meta-analysis. Psychol Rep 2008;103:799-811.
    • (2008) Psychol Rep , vol.103 , pp. 799-811
    • Voracek, M.1    Haubner, T.2    Fisher, M.L.3
  • 13
    • 0033028864 scopus 로고    scopus 로고
    • Estimation of nonpaternity in the Mexican population of Nuevo Leon: A validation study with blood group markers
    • Cerda-Flores RM, Barton SA, Marty-Gonzalez LF, Rivas F, Chakraborty R. Estimation of nonpaternity in the Mexican population of Nuevo Leon: a validation study with blood group markers. Am J Phys Anthropol 1999;109:281-293.
    • (1999) Am J Phys Anthropol , vol.109 , pp. 281-293
    • Cerda-Flores, R.M.1    Barton, S.A.2    Marty-Gonzalez, L.F.3    Rivas, F.4    Chakraborty, R.5
  • 14
    • 0028062086 scopus 로고
    • Estimating the frequency of nonpaternity in Switzerland
    • Sasse G, Müller H, Chakraborty R, Ott J. Estimating the frequency of nonpaternity in Switzerland. Hum Hered 1994;44:337-343.
    • (1994) Hum Hered , vol.44 , pp. 337-343
    • Sasse, G.1    Müller, H.2    Chakraborty, R.3    Ott, J.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.