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Volumn 35, Issue 10, 2015, Pages 1018-1021

A new approach for Next Generation Sequencing in prenatal diagnosis applied to a case of Charcot-Marie-Tooth syndrome

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

EID: 84943351507     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.4627     Document Type: Article
Times cited : (2)

References (9)
  • 1
    • 84896691791 scopus 로고    scopus 로고
    • DNA sequencing versus standard prenatal aneuploidy screening
    • Bianchi DW, Parker RL, Wentworth J, et al. DNA sequencing versus standard prenatal aneuploidy screening. N Engl J Med 2014;370(9):799-808, DOI:10.1056/NEJMoa1311037.
    • (2014) N Engl J Med , vol.370 , Issue.9 , pp. 799-808
    • Bianchi, D.W.1    Parker, R.L.2    Wentworth, J.3
  • 2
    • 84897589453 scopus 로고    scopus 로고
    • Non-invasive prenatal testing for fetal chromosomal abnormalities by low-coverage whole-genome sequencing of maternal plasma DNA: review of 1982 consecutive cases in a single center
    • Lau TK, Cheung SW, Lo PSS, et al. Non-invasive prenatal testing for fetal chromosomal abnormalities by low-coverage whole-genome sequencing of maternal plasma DNA: review of 1982 consecutive cases in a single center. Ultrasound Obstet Gynecol, Off J Int Soc Ultrasound Obstet Gynecol 2014;43(3):254-64, DOI:10.1002/uog.13277.
    • (2014) Ultrasound Obstet Gynecol Off J Int Soc Ultrasound Obstet Gynecol , vol.43 , Issue.3 , pp. 254-264
    • Lau, T.K.1    Cheung, S.W.2    Lo, P.S.S.3
  • 3
    • 84933673322 scopus 로고    scopus 로고
    • Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next generation sequencing allows for a safer, more accurate and comprehensive approach
    • Chitty LS, Mason S, Barrett AN, et al. Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next generation sequencing allows for a safer, more accurate and comprehensive approach. Prenat Diagn 2015;35(7):656-62, DOI:10.1002/pd.4583.
    • (2015) Prenat Diagn , vol.35 , Issue.7 , pp. 656-662
    • Chitty, L.S.1    Mason, S.2    Barrett, A.N.3
  • 4
    • 84943348860 scopus 로고    scopus 로고
    • Non-invasive prenatal diagnosis for cystic fibrosis: detection of paternal mutations, exploration of patient preferences and cost analysis
    • Hill M, Twiss P, Verhoef TI, et al. Non-invasive prenatal diagnosis for cystic fibrosis: detection of paternal mutations, exploration of patient preferences and cost analysis. Prenat Diagn 2015;35(10):950-8, DOI:10.1002/pd.4585.
    • (2015) Prenat Diagn , vol.35 , Issue.10 , pp. 950-958
    • Hill, M.1    Twiss, P.2    Verhoef, T.I.3
  • 5
    • 84943233998 scopus 로고    scopus 로고
    • Exome sequencing for gene discovery in lethal fetal disorders-harnessing the value of extreme phenotypes
    • Filges I, Friedman JM. Exome sequencing for gene discovery in lethal fetal disorders-harnessing the value of extreme phenotypes. Prenat Diagn 2015;35(10):1005-9, DOI:10.1002/pd.4464.
    • (2015) Prenat Diagn , vol.35 , Issue.10 , pp. 1005-1009
    • Filges, I.1    Friedman, J.M.2
  • 6
    • 84870568851 scopus 로고    scopus 로고
    • Clinical diagnosis by whole-genome sequencing of a prenatal sample
    • Talkowski ME, Ordulu Z, Pillalamarri V, et al. Clinical diagnosis by whole-genome sequencing of a prenatal sample. N Engl J Med 2012;367(23):2226-32. DOI:10.1056/NEJMoa1208594.
    • (2012) N Engl J Med , vol.367 , Issue.23 , pp. 2226-2232
    • Talkowski, M.E.1    Ordulu, Z.2    Pillalamarri, V.3
  • 7
    • 77951559072 scopus 로고    scopus 로고
    • Phenotypic spectrum of MFN2 mutations in the Spanish population
    • Casasnovas C, Banchs I, Cassereau J, et al. Phenotypic spectrum of MFN2 mutations in the Spanish population. J Med Genet 2010;47(4):249-56. DOI:10.1136/jmg.2009.072488.
    • (2010) J Med Genet , vol.47 , Issue.4 , pp. 249-256
    • Casasnovas, C.1    Banchs, I.2    Cassereau, J.3
  • 8
    • 84878847340 scopus 로고    scopus 로고
    • Mitofusin 2 mutations affect mitochondrial function by mitochondrial DNA depletion
    • Vielhaber S, Debska-Vielhaber G, Peeva V, et al. Mitofusin 2 mutations affect mitochondrial function by mitochondrial DNA depletion. Acta Neuropathol (Berl) 2013;125(2):245-56. DOI:10.1007/s00401-012-1036-y.
    • (2013) Acta Neuropathol (Berl) , vol.125 , Issue.2 , pp. 245-256
    • Vielhaber, S.1    Debska-Vielhaber, G.2    Peeva, V.3
  • 9
    • 84905996534 scopus 로고    scopus 로고
    • Charcot-Marie-Tooth disease type 2A: from typical to rare phenotypic and genotypic features
    • Bombelli F, Stojkovic T, Dubourg O, et al. Charcot-Marie-Tooth disease type 2A: from typical to rare phenotypic and genotypic features. JAMA Neurol 2014;71(8):1036-42. DOI:10.1001/jamaneurol.2014.629.
    • (2014) JAMA Neurol , vol.71 , Issue.8 , pp. 1036-1042
    • Bombelli, F.1    Stojkovic, T.2    Dubourg, O.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.