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Volumn 77, Issue 2, 2009, Pages 103-109

Prenatal molecular diagnosis in a carrying fetus of the alelo for distrofia muscular of Duchenne by means of biopsy of hairinesses corionicas. A case report and literature review;Diagnóstico prenatal molecular en un feto portador del alelo para distrofia muscular de Duchenne mediante biopsia de vellosidades coriónicas. Reporte de un caso y revisión bibliográfica

Author keywords

Chorionic villus sampling; Duchenne and Becker muscular dystrophies; Prenatal and molecular diagnosis

Indexed keywords

DNA;

EID: 67649550641     PISSN: 03009041     EISSN: 03009041     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (1)

References (21)
  • 1
    • 0037160782 scopus 로고    scopus 로고
    • The muscular dystrophies
    • DOI 10.1016/S0140-6736(02)07815-7
    • Emery AE. The muscular dystrophies. Lancet 2002;359:687-695 (Pubitemid 34203773)
    • (2002) Lancet , vol.359 , Issue.9307 , pp. 687-695
    • Emery, A.E.H.1
  • 3
    • 0025774523 scopus 로고
    • A convenient multiplex PCR system for the detection of dystrophin gene deletions: A comparative analysis with cDNA hybridisation shows mistypings by both methods
    • Abbs S, Yau SC, Mathew CG, Bobrow M. A convenient multiplex PCR system for the detection of dystrophin gene deletions: a comparative analysis with cDNA hybridisation shows mistypings by both methods. J Med Genet 1991;28:304-311 (Pubitemid 21922605)
    • (1991) Journal of Medical Genetics , vol.28 , Issue.5 , pp. 304-311
    • Abbs, S.1    Yau, S.C.2    Clark, S.3    Mathew, C.G.4    Bobrow, M.5
  • 4
    • 0038769897 scopus 로고    scopus 로고
    • Molecular diagnosis of Duchenne/Becker muscular dystrophy by polymerase chain reaction and microsatellite analysis
    • Kim UK, Chae JJ, Lee SH, Lee CC, Namkoong Y. Molecular diagnosis of Duchenne/Becker muscular dystrophy by polymerase chain reaction and microsatellite analysis. Mol Cells 2002;13:385-388 (Pubitemid 41582999)
    • (2002) Molecules and Cells , vol.13 , Issue.3 , pp. 385-388
    • Kim, U.K.1    Chae, J.J.2    Lee, S.H.3    Lee, C.C.4    Namkoong, Y.5
  • 6
    • 0030453801 scopus 로고    scopus 로고
    • Prenatal diagnosis of Duchenne and Becker muscular dystrophy
    • DOI 10.1002/(SICI)1097-0223(199612)16:13<1187::AID-PD94>3.0.CO;2-2
    • Abbs S. Prenatal diagnosis of Duchenne and Becker muscular dystrophy. Prenat Diagn 1996;16:1187-1198 (Pubitemid 27107723)
    • (1996) Prenatal Diagnosis , vol.16 , Issue.13 , pp. 1187-1198
    • Abbs, S.1
  • 7
    • 0034755465 scopus 로고    scopus 로고
    • Carrier detection and prenatal molecular diagnosis in a duchenne muscular dystrophy family without any affected relative available
    • DOI 10.1016/S0003-3995(01)01084-X
    • Alcantara M, Garcia-Cavazos R, Hernández UE, Gonzalezdel Angel A, et al. Carrier detection and prenatal molecular diagnosis in a Duchenne muscular dystrophy family without any affected relative available. Ann Genet 2001;44:149-153 (Pubitemid 33044384)
    • (2001) Annales de Genetique , vol.44 , Issue.3 , pp. 149-153
    • Alcantara, M.A.1    Garcia-Cavazos, R.2    Hernandez-U, E.3    Gonzalez-Del Angel, A.4    Carnevale, A.5    Orozco, L.6
  • 9
    • 0020621218 scopus 로고
    • Efficient direct chromosomal analysis and enzyme determination from chorionic villi samples in the first trimester of pregnancy
    • Simoni G, Brambati B, Danesino C, Rossella F, et al. Efficient direct chromosomal analysis and enzyme determination from chorionic villi samples in the first trimester of pregnancy. Hum Genet 1983;63:349-357
    • (1983) Hum Genet , vol.63 , pp. 349-357
    • Simoni, G.1    Brambati, B.2    Danesino, C.3    Rossella, F.4
  • 10
    • 0022047795 scopus 로고
    • Prenatal genetic diagnosis by chorionic villus sampling (CVS)
    • Jackson L. Prenatal genetic diagnosis by chorionic villus sampling (CVS). Sem Perinatol 1985;9:209-218
    • (1985) Sem Perinatol , vol.9 , pp. 209-218
    • Jackson, L.1
  • 12
    • 0026649684 scopus 로고
    • First-trimester biochemical and molecular diagnoses using chorionic villi: High accuracy in the U.S. collaborative study
    • Desnick RJ, Schuette JL, Golbus MS, Jackson L, et al. First-trimester biochemical and molecular diagnoses using chorionic villi: high accuracy in the U.S. collaborative study. Prenat Diagn 1992; 12:357-372.
    • (1992) Prenat Diagn , vol.12 , pp. 357-372
    • Desnick, R.J.1    Schuette, J.L.2    Golbus, M.S.3    Jackson, L.4
  • 14
    • 0032774179 scopus 로고    scopus 로고
    • Rapid prenatal diagnosis of aneuploidies in uncultured amniocytes by fluorescence in situ hybridization. Evaluation of 3,000 cases
    • Eiben B, Trawicki W, Hammans W, Goebel R, et al. Rapid prenatal diagnosis of aneuploidies in uncultured amniocytes by fluorescence in situ hybridization. Evaluation of 3,000 cases. Fetal Diagn Ther 1999;14:193-197
    • (1999) Fetal Diagn Ther , vol.14 , pp. 193-197
    • Eiben, B.1    Trawicki, W.2    Hammans, W.3    Goebel, R.4
  • 15
    • 0032753807 scopus 로고    scopus 로고
    • Analysis of five Duchenne muscular dystrophy exons and gender determination using conventional duplex polymerase chain reaction on single cells
    • DOI 10.1093/molehr/5.11.1089
    • Hussey ND, Donggui H, Froiland DAH, et al. Analysis of five Duchenne muscular dystrophy exons and gender determination using conventional duplex polymerase chain reaction on single cells. Mol Hum Reprod 1999;5:1089-1094 (Pubitemid 29518915)
    • (1999) Molecular Human Reproduction , vol.5 , Issue.11 , pp. 1089-1094
    • Hussey, N.D.1    Donggui, H.2    Froiland, D.A.H.3    Hussey, D.J.4    Haan, E.A.5    Matthews, C.D.6    Craig, J.E.7
  • 18
    • 30444436185 scopus 로고    scopus 로고
    • Attitudes towards carrier testing in minors: A systematic review
    • Borry P, Fryns JP, Schotsmans P, Dierickx K. Attitudes towards carrier testing in minors: a systematic review. Genet Couns 2005; 16:341-352 (Pubitemid 43075613)
    • (2005) Genetic Counseling , vol.16 , Issue.4 , pp. 341-352
    • Borry, P.1    Fryns, J.P.2    Schotsmans, P.3    Dierickx, K.4
  • 19
    • 0028872836 scopus 로고
    • Points to consider: Ethical legal, and psychosocial implications of genetic testing in childhood and adolescents
    • American Society of Human Genetics, American College of Medical Genetics (ASHG/ACMG)
    • American Society of Human Genetics, American College of Medical Genetics (ASHG/ACMG). Points to consider: ethical legal, and psychosocial implications of genetic testing in childhood and adolescents. Am J Hum Genet 1995;57:1233-1241
    • (1995) Am J Hum Genet , vol.57 , pp. 1233-1241
  • 20
    • 31344443014 scopus 로고    scopus 로고
    • Carrier testing in minors: A systematic review of guidelines and position papers
    • DOI 10.1038/sj.ejhg.5201509, PII 5201509
    • Borry P, Schotsmans P, Fryns JP, Dierickx K. Carrier testing in minors: a systematic review of guidelines and positions statements. Eur J Hum Genet 2006;14:133-138 (Pubitemid 43135853)
    • (2006) European Journal of Human Genetics , vol.14 , Issue.2 , pp. 133-138
    • Borry, P.1    Fryns, J.-P.2    Schotsmans, P.3    Dierickx, K.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.