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Volumn 16, Issue 2, 2014, Pages 273-279

Development of a genomic DNA reference material panel for rett syndrome (MECP2-related disorders) genetic testing

(14)  Kalman, Lisa V a   Tarleton, Jack C b   Percy, Alan K c   Aradhya, Swaroop d   Bale, Sherri d   Barker, Shannon D e   Bayrak Toydemir, Pinar f   Bridges, Christina b   Buller Burckle, Arlene M g   Das, Soma h   Iyer, Ramaswamy K i   Vo, Timothy D j   Zvereff, Val V k   Toji, Lorraine H l  


Author keywords

[No Author keywords available]

Indexed keywords

CELL LINE; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; GENETIC TESTING; HUMANS; MALE; METHYL-CPG-BINDING PROTEIN 2; MULTIPLEX POLYMERASE CHAIN REACTION; REFERENCE STANDARDS; RETT SYNDROME; SEQUENCE ANALYSIS, DNA;

EID: 84894074271     PISSN: 15251578     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jmoldx.2013.11.004     Document Type: Article
Times cited : (8)

References (19)
  • 3
    • 0034891348 scopus 로고    scopus 로고
    • Rett syndrome in a boy with 47,XXY karyotype confirmed by a rare mutation in the MECP2 gene
    • J.S. Schwartzman, A. Bernadino, A. Nishimura, R.R. Gomes, and M. Zatz Rett syndrome in a boy with 47,XXY karyotype confirmed by a rare mutation in the MECP2 gene Neuropediatrics 32 2001 162 164
    • (2001) Neuropediatrics , vol.32 , pp. 162-164
    • Schwartzman, J.S.1    Bernadino, A.2    Nishimura, A.3    Gomes, R.R.4    Zatz, M.5
  • 4
    • 84863900133 scopus 로고    scopus 로고
    • MECP2-Related Disorders
    • Copyright University of Washington, Seattle. 1993-2013., last revised June 28, 2012
    • Christodoulou J, Ho G. MECP2-Related Disorders. In GeneReviews [Internet]. Copyright University of Washington, Seattle. 1993-2013. Available at http://www.ncbi.nlm.nih.gov/books/NBK1497, last revised June 28, 2012
    • GeneReviews [Internet]
    • Christodoulou, J.1    Ho, G.2
  • 9
    • 84894100627 scopus 로고    scopus 로고
    • International Organization For Standardization International Organization for Standardization Geneva
    • International Organization for Standardization ISO 15189 Medical Laboratories - Requirements for Quality and Competence 2012 International Organization for Standardization Geneva
    • (2012) ISO 15189 Medical Laboratories - Requirements for Quality and Competence
  • 11
    • 67449086899 scopus 로고    scopus 로고
    • Good laboratory practices for molecular genetic testing for heritable diseases and conditions
    • Centers for Disease Control and Prevention (CDC)
    • B. Chen, M. Gagnon, S. Shahangian, N.L. Anderson, D.A. Howerton, D.J. Boone Centers for Disease Control and Prevention (CDC) Good laboratory practices for molecular genetic testing for heritable diseases and conditions MMWR Recomm Rep 58 RR-6 2009 1 37
    • (2009) MMWR Recomm Rep , vol.58 , Issue.RR-6 , pp. 1-37
    • Chen, B.1    Gagnon, M.2    Shahangian, S.3    Anderson, N.L.4    Howerton, D.A.5    Boone, D.J.6
  • 12
    • 0033066787 scopus 로고    scopus 로고
    • Association for Molecular Pathology statement: Recommendations for in-house development and operation of molecular diagnostic tests
    • Association for Molecular Pathology statement: recommendations for in-house development and operation of molecular diagnostic tests Am J Clin Pathol 111 1999 449 463
    • (1999) Am J Clin Pathol , vol.111 , pp. 449-463
  • 13
    • 27644534226 scopus 로고    scopus 로고
    • Developing a sustainable process to provide quality control materials for genetic testing
    • B. Chen, C.D. O'Connell, D.J. Boone, J.A. Amos, J.C. Beck, and M.M. Chan et al. Developing a sustainable process to provide quality control materials for genetic testing Genet Med 7 2005 534 549
    • (2005) Genet Med , vol.7 , pp. 534-549
    • Chen, B.1    O'Connell, C.D.2    Boone, D.J.3    Amos, J.A.4    Beck, J.C.5    Chan, M.M.6
  • 18
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • S.A. Miller, D.D. Dykes, and H.F. Polesky A simple salting out procedure for extracting DNA from human nucleated cells Nucleic Acids Res 16 1988 1215
    • (1988) Nucleic Acids Res , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.