메뉴 건너뛰기




Volumn 82, Issue 6, 2008, Pages 441-452

Refinement of 2q and 7p loci in a large multiplex NTD family

(31)  Stamm, Demetra S a,b   Siegel, Deborah G a   Mehltretter, Lorraine a   Connelly, Jessica J a   Trott, Alison a   Ellis, Nathen a   Zismann, Victoria c   Stephan, Dietrich A c   George, Timothy M d   Vekemans, Michel e   Ashley Koch, Allison a   Gilbert, John R f   Gregory, Simon G a   Speer, Marcy C a   Aben, Joanna g   Aylsworth, Arthur b   Powell, Cynthia b   Mackey, Joanne a   Worley, Gordon a   Brei, Timothy h   more..


Author keywords

Array CGH; Candidate genes; Gene mapping; Neural tube defects (NTDs); Spina bifida

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOME 2; CHROMOSOME 7; CHROMOSOME ABERRATION; FAMILIAL DISEASE; FAMILY STUDY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE ISOLATION; GENOTYPE; HAPLOTYPE; HUMAN; HUMAN CELL; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; NEURAL TUBE DEFECT; NUCLEOTIDE SEQUENCE; PEDIGREE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 46649109586     PISSN: 15420752     EISSN: 15420760     Source Type: Journal    
DOI: 10.1002/bdra.20462     Document Type: Article
Times cited : (11)

References (46)
  • 2
    • 0022792421 scopus 로고
    • Estimating the power of a proposed linkage study: A practical computer simulation approach
    • Boehnke M. 1986. Estimating the power of a proposed linkage study: a practical computer simulation approach. Am J Hum Genet 39:513-527.
    • (1986) Am J Hum Genet , vol.39 , pp. 513-527
    • Boehnke, M.1
  • 3
    • 0030881661 scopus 로고    scopus 로고
    • Accurate inference of relationships in sib-pair linkage studies
    • Boehnke M, Cox NJ. 1997. Accurate inference of relationships in sib-pair linkage studies. Am J Hum Genet 61:423-429.
    • (1997) Am J Hum Genet , vol.61 , pp. 423-429
    • Boehnke, M.1    Cox, N.J.2
  • 4
    • 23844506823 scopus 로고    scopus 로고
    • Linkage disequilibrium inflates type 1 error rates in multipoint linkage analysis when parental genotypes are missing
    • Boyles AL, Scott WK, Martin ER, et al. 2005. Linkage disequilibrium inflates type 1 error rates in multipoint linkage analysis when parental genotypes are missing. Hum Hered 59:220-227.
    • (2005) Hum Hered , vol.59 , pp. 220-227
    • Boyles, A.L.1    Scott, W.K.2    Martin, E.R.3
  • 5
    • 0346373654 scopus 로고    scopus 로고
    • Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium
    • Carlson CS, Eberle MA, Rieder MJ, et al. 2004. Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium. Am J Hum Genet 74:106-120.
    • (2004) Am J Hum Genet , vol.74 , pp. 106-120
    • Carlson, C.S.1    Eberle, M.A.2    Rieder, M.J.3
  • 8
    • 20444424616 scopus 로고    scopus 로고
    • Human neural tube defects: Developmental biology, epidemiology, and genetics
    • Detrait ER, George TM, Etchevers HC, et al. 2005. Human neural tube defects: developmental biology, epidemiology, and genetics. Neurotoxicol Teratol 27:515-524.
    • (2005) Neurotoxicol Teratol , vol.27 , pp. 515-524
    • Detrait, E.R.1    George, T.M.2    Etchevers, H.C.3
  • 9
    • 0014683567 scopus 로고
    • Inheritance of chronic granulomatous disease
    • Edwards JH. 1969. Inheritance of chronic granulomatous disease. Lancet 2:850-851.
    • (1969) Lancet , vol.2 , pp. 850-851
    • Edwards, J.H.1
  • 10
    • 0033759689 scopus 로고    scopus 로고
    • Improved inference of relationship for pairs of individuals
    • Epstein MP, Duren WL, Boehnke M. 2000. Improved inference of relationship for pairs of individuals. Am J Hum Genet 67:1219-1231.
    • (2000) Am J Hum Genet , vol.67 , pp. 1219-1231
    • Epstein, M.P.1    Duren, W.L.2    Boehnke, M.3
  • 11
    • 0037376804 scopus 로고    scopus 로고
    • DNA microarrays for comparative genomic hybridization based on DOP-PCR amplification of BAC and PAC clones 1
    • Fiegler H, Carr P, Douglas EJ, et al. 2003. DNA microarrays for comparative genomic hybridization based on DOP-PCR amplification of BAC and PAC clones 1. Genes Chrom Can 36:361-374.
    • (2003) Genes Chrom Can , vol.36 , pp. 361-374
    • Fiegler, H.1    Carr, P.2    Douglas, E.J.3
  • 12
    • 0019423285 scopus 로고
    • Possible teratogenicity of valproic acid
    • Gomez MR. 1981. Possible teratogenicity of valproic acid. J Pediatr 98:508-509.
    • (1981) J Pediatr , vol.98 , pp. 508-509
    • Gomez, M.R.1
  • 13
    • 17844390637 scopus 로고    scopus 로고
    • Mouse models of neural tube defects: Investigating preventive mechanisms
    • Greene ND, Copp AJ. 2005. Mouse models of neural tube defects: investigating preventive mechanisms. Am J Med Genet C Semin Med Genet 135:31-41.
    • (2005) Am J Med Genet C Semin Med Genet , vol.135 , pp. 31-41
    • Greene, N.D.1    Copp, A.J.2
  • 14
    • 0034098774 scopus 로고    scopus 로고
    • Allegro, a new computer program for multipoint linkage analysis
    • Gudbjartsson DF, Jonasson K, Frigge ML, et al. 2000. Allegro, a new computer program for multipoint linkage analysis. Nat Genet 25:12-13.
    • (2000) Nat Genet , vol.25 , pp. 12-13
    • Gudbjartsson, D.F.1    Jonasson, K.2    Frigge, M.L.3
  • 15
    • 0024264487 scopus 로고
    • Clinical, genetic, and epidemiological factors in neural tube defects
    • Hall JG, Friedman JM, Kenna BA, et al. 1988. Clinical, genetic, and epidemiological factors in neural tube defects. Am J Hum Genet 43:827-837.
    • (1988) Am J Hum Genet , vol.43 , pp. 827-837
    • Hall, J.G.1    Friedman, J.M.2    Kenna, B.A.3
  • 16
    • 33947172588 scopus 로고    scopus 로고
    • Mouse mutants with neural tube closure defects and their role in understanding human neural tube defects. Birth Defects Res A Clin Mol
    • Harris MJ, Juriloff DM. 2007. Mouse mutants with neural tube closure defects and their role in understanding human neural tube defects. Birth Defects Res A Clin Mol Teratol 79:187-210.
    • (2007) Teratol , vol.79 , pp. 187-210
    • Harris, M.J.1    Juriloff, D.M.2
  • 17
    • 0003156643 scopus 로고
    • PEDIGENE: A comprehensive data management system to facilitate efficient and rapid disease gene mapping
    • Haynes C, Speer MC, Peedin M, et al. 1995. PEDIGENE: A comprehensive data management system to facilitate efficient and rapid disease gene mapping. Am J Hum Genet 57:A193.
    • (1995) Am J Hum Genet , vol.57
    • Haynes, C.1    Speer, M.C.2    Peedin, M.3
  • 18
    • 8844250042 scopus 로고    scopus 로고
    • Ignoring linkage disequilibrium among tightly linked markers induces false-positive evidence of linkage for affected sib pair analysis
    • Huang Q, Shete S, Amos CI. 2004. Ignoring linkage disequilibrium among tightly linked markers induces false-positive evidence of linkage for affected sib pair analysis. Am J Hum Genet 75:1106-1112.
    • (2004) Am J Hum Genet , vol.75 , pp. 1106-1112
    • Huang, Q.1    Shete, S.2    Amos, C.I.3
  • 19
    • 0030047177 scopus 로고    scopus 로고
    • Aneuploidy among prenatally detected neural tube defects
    • Hume RF, Drugan A, Reichler A, et al. 1996. Aneuploidy among prenatally detected neural tube defects. Am J Med Genet 61:171-173.
    • (1996) Am J Med Genet , vol.61 , pp. 171-173
    • Hume, R.F.1    Drugan, A.2    Reichler, A.3
  • 20
    • 0021133487 scopus 로고
    • Neural tube defects in Eastern Ontario and Western Quebec: Demography and family data
    • Hunter AG. 1984. Neural tube defects in Eastern Ontario and Western Quebec: demography and family data. Am J Med Genet 19:45-63.
    • (1984) Am J Med Genet , vol.19 , pp. 45-63
    • Hunter, A.G.1
  • 21
    • 0032557731 scopus 로고    scopus 로고
    • Prenatally diagnosed neural tube defects: Ultrasound, chromosome, and autopsy or postnatal findings in 212 cases
    • Kennedy D, Chitayat D, Winsor EJT, et al. 1998. Prenatally diagnosed neural tube defects: Ultrasound, chromosome, and autopsy or postnatal findings in 212 cases. Am J Med Genet 77:317-321.
    • (1998) Am J Med Genet , vol.77 , pp. 317-321
    • Kennedy, D.1    Chitayat, D.2    Winsor, E.J.T.3
  • 22
    • 0028940267 scopus 로고
    • Epidemiological evaluation of the use of genetics to improve the predictive value of disease risk factors
    • Khoury MJ, Wagener DK. 1995. Epidemiological evaluation of the use of genetics to improve the predictive value of disease risk factors. Am J Hum Genet 56:835-844.
    • (1995) Am J Hum Genet , vol.56 , pp. 835-844
    • Khoury, M.J.1    Wagener, D.K.2
  • 23
    • 0030728925 scopus 로고    scopus 로고
    • Allele-sharing models: LOD scores and accurate linkage tests
    • Kong A, Cox NJ. 1997. Allele-sharing models: LOD scores and accurate linkage tests. Am J Hum Genet 61:1179-1188.
    • (1997) Am J Hum Genet , vol.61 , pp. 1179-1188
    • Kong, A.1    Cox, N.J.2
  • 24
    • 24344442909 scopus 로고    scopus 로고
    • Human subtelomeres are hot spots of interchromosomal recombination and segmental duplication
    • Linardopoulou EV, Williams EM, Fan Y, et al. 2005. Human subtelomeres are hot spots of interchromosomal recombination and segmental duplication. Nature 437:94-100.
    • (2005) Nature , vol.437 , pp. 94-100
    • Linardopoulou, E.V.1    Williams, E.M.2    Fan, Y.3
  • 25
    • 0022571613 scopus 로고
    • In-utero exposure to valproate and neural tube defects (letter)
    • Lindhout D, Schmidt D. 1986. In-utero exposure to valproate and neural tube defects (letter). Lancet 1:1392-1393.
    • (1986) Lancet , vol.1 , pp. 1392-1393
    • Lindhout, D.1    Schmidt, D.2
  • 26
    • 17844386819 scopus 로고    scopus 로고
    • Loeken MR. 2005. Current perspectives on the causes of neural tube defects resulting from diabetic pregnancy. Am J Med Genett C-Sem Med Genet 135G77-87.
    • Loeken MR. 2005. Current perspectives on the causes of neural tube defects resulting from diabetic pregnancy. Am J Med Genett C-Sem Med Genet 135G77-87.
  • 27
    • 17844368588 scopus 로고    scopus 로고
    • Non-multifactorial neural tube defects
    • Lynch SA. 2005. Non-multifactorial neural tube defects. Am J Med Genet C Semin Med Genet 135:69-76.
    • (2005) Am J Med Genet C Semin Med Genet , vol.135 , pp. 69-76
    • Lynch, S.A.1
  • 28
    • 11144357212 scopus 로고    scopus 로고
    • Fumonisins disrupt sphingolipid metabolism, folate transport, and neural tube development in embryo culture and in vivo: A potential risk factor for human neural tube defects among populations consuming fumonisin-contaminated maize
    • Marasas WF, Riley RT, Hendricks KA, et al. 2004. Fumonisins disrupt sphingolipid metabolism, folate transport, and neural tube development in embryo culture and in vivo: a potential risk factor for human neural tube defects among populations consuming fumonisin-contaminated maize. J Nutr 134:711-716.
    • (2004) J Nutr , vol.134 , pp. 711-716
    • Marasas, W.F.1    Riley, R.T.2    Hendricks, K.A.3
  • 31
    • 0004950137 scopus 로고    scopus 로고
    • Development of a standardized family history questionnaire for research purposes
    • Melvin EC, Scott WK, Speer MC, et al. 1998. Development of a standardized family history questionnaire for research purposes. J Genet Counsel 7:475.
    • (1998) J Genet Counsel , vol.7 , pp. 475
    • Melvin, E.C.1    Scott, W.K.2    Speer, M.C.3
  • 32
    • 0025863475 scopus 로고
    • Prevention of neural tube defects: Results of the Medical Research Council Vitamin Study
    • MRC Vitamin Study Research Group
    • MRC Vitamin Study Research Group. 1991. Prevention of neural tube defects: results of the Medical Research Council Vitamin Study. Lancet 338:131-137.
    • (1991) Lancet , vol.338 , pp. 131-137
  • 33
    • 0032231941 scopus 로고    scopus 로고
    • PedCheck: A program for identification of genotype incompatibilities in linkage analysis
    • O'Connell JR, Weeks DE. 1998. PedCheck: a program for identification of genotype incompatibilities in linkage analysis. Am J Hum Genet 63:259-266.
    • (1998) Am J Hum Genet , vol.63 , pp. 259-266
    • O'Connell, J.R.1    Weeks, D.E.2
  • 34
    • 33947534854 scopus 로고    scopus 로고
    • Standard mutation nomenclature in molecular diagnostics: Practical and educational challenges
    • Ogino S, Gulley ML, Den Dunnen JT, et al. 2007. Standard mutation nomenclature in molecular diagnostics: practical and educational challenges. J Mol Diagn 9:1-6.
    • (2007) J Mol Diagn , vol.9 , pp. 1-6
    • Ogino, S.1    Gulley, M.L.2    Den Dunnen, J.T.3
  • 35
    • 17344371740 scopus 로고    scopus 로고
    • High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays
    • Pinkel D, Segraves R, Sudar D, et al. 1998. High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays. Nat Genet 20:207-211.
    • (1998) Nat Genet , vol.20 , pp. 207-211
    • Pinkel, D.1    Segraves, R.2    Sudar, D.3
  • 36
    • 0024602536 scopus 로고
    • Estimating the power of a proposed linkage study for a complex genetic trait
    • Ploughman LM, Boehnke M. 1989. Estimating the power of a proposed linkage study for a complex genetic trait. Am J Hum Genet 44:543-551.
    • (1989) Am J Hum Genet , vol.44 , pp. 543-551
    • Ploughman, L.M.1    Boehnke, M.2
  • 37
    • 29144536192 scopus 로고    scopus 로고
    • Whole genome-wide linkage screen for Neural Tube Defects reveals regions of interest on chromosomes 7 and 10
    • Rampersaud E, Bassuk AG, Enterline DS, et al. 2005. Whole genome-wide linkage screen for Neural Tube Defects reveals regions of interest on chromosomes 7 and 10. J Med Genet 42:940-946.
    • (2005) J Med Genet , vol.42 , pp. 940-946
    • Rampersaud, E.1    Bassuk, A.G.2    Enterline, D.S.3
  • 38
    • 19944426643 scopus 로고    scopus 로고
    • Recurrence risks for neural tube defects in siblings of patients with ltpomyelomeningocele
    • Sebold CD, Melvin EC, Siegel D, et al. 2005. Recurrence risks for neural tube defects in siblings of patients with ltpomyelomeningocele. Genet Med 7:64-67.
    • (2005) Genet Med , vol.7 , pp. 64-67
    • Sebold, C.D.1    Melvin, E.C.2    Siegel, D.3
  • 39
    • 0029869817 scopus 로고    scopus 로고
    • Risk of neural tube defect-affected pregnancies among obese women
    • Shaw GM, Velie EM, Schaffer D. 1996. Risk of neural tube defect-affected pregnancies among obese women. JAMA 275:1093-1096.
    • (1996) JAMA , vol.275 , pp. 1093-1096
    • Shaw, G.M.1    Velie, E.M.2    Schaffer, D.3
  • 40
    • 33748285273 scopus 로고    scopus 로고
    • Stamm DS, Rampersaud E, Slifer SH, et al. 2006. High-density single nucleotide polymorphism screen in a large multiplex neural tube defect family refines linkage to loci at 7p21.1-pter and 2q33.1-q35. Birth Defects Res A Clin Mol Teratol 76:499-505.
    • Stamm DS, Rampersaud E, Slifer SH, et al. 2006. High-density single nucleotide polymorphism screen in a large multiplex neural tube defect family refines linkage to loci at 7p21.1-pter and 2q33.1-q35. Birth Defects Res A Clin Mol Teratol 76:499-505.
  • 41
    • 0034915909 scopus 로고    scopus 로고
    • Xenopus Dishevelled signaling regulates both neural and mesodermal convergent extension: Parallel forces elongating the body axis
    • Wallingford JB, Harland RM. 2001. Xenopus Dishevelled signaling regulates both neural and mesodermal convergent extension: parallel forces elongating the body axis. Development 128:2581-2592.
    • (2001) Development , vol.128 , pp. 2581-2592
    • Wallingford, J.B.1    Harland, R.M.2
  • 42
    • 0036922915 scopus 로고    scopus 로고
    • Neural tube closure requires Dishevelled-dependent convergent extension of the midline
    • Wallingford JB, Harland RM. 2002. Neural tube closure requires Dishevelled-dependent convergent extension of the midline. Development 129:5815-5825.
    • (2002) Development , vol.129 , pp. 5815-5825
    • Wallingford, J.B.1    Harland, R.M.2
  • 43
    • 0029799199 scopus 로고    scopus 로고
    • Is maternal obesity a risk factor for anencephaly and spina bifida?
    • Watkins ML, Scanlon KS, Mulinare J, et al. 1996. Is maternal obesity a risk factor for anencephaly and spina bifida? Epidemiology 7:507-512.
    • (1996) Epidemiology , vol.7 , pp. 507-512
    • Watkins, M.L.1    Scanlon, K.S.2    Mulinare, J.3
  • 44
    • 0029062606 scopus 로고
    • Computer programs for multilocus haplotyping of general pedigrees
    • Weeks DE, Sobel E, O'Connell JR, et al. 1995. Computer programs for multilocus haplotyping of general pedigrees. Am J Hum Genet 56:1506-1507.
    • (1995) Am J Hum Genet , vol.56 , pp. 1506-1507
    • Weeks, D.E.1    Sobel, E.2    O'Connell, J.R.3
  • 45
    • 0028301661 scopus 로고
    • A class of tests for linkage using affected pedigree members
    • Whittemore AS, Halpern J. 1994. A class of tests for linkage using affected pedigree members. Biometrics 50:118-127.
    • (1994) Biometrics , vol.50 , pp. 118-127
    • Whittemore, A.S.1    Halpern, J.2
  • 46
    • 0036019274 scopus 로고    scopus 로고
    • Prevalence of spina bifida and anencephaly during the transition to mandatory folic acid fortification in the United States
    • Williams LJ, Mai CT, Edmonds LD. 2002. Prevalence of spina bifida and anencephaly during the transition to mandatory folic acid fortification in the United States. Teratology 66:33-39.
    • (2002) Teratology , vol.66 , pp. 33-39
    • Williams, L.J.1    Mai, C.T.2    Edmonds, L.D.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.