journal1 ›› 2013, Vol. 21 ›› Issue (1): 54-56.
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Received:
2012-03-27
Online:
2013-01-06
Published:
2013-01-06
杨尧,王芳,何玺玉
通讯作者:
何玺玉,E-mail:hxyjs2001@yahoo.com.cn
作者简介:
杨尧 (1981-),男,博士学位,研究方向为遗传病诊断和机制。基金资助:
CLC Number:
杨尧,王芳,何玺玉. 智力障碍的遗传因素研究进展[J]. 中国儿童保健杂志, 2013, 21(1): 54-56.
[1] Luis SC,Geoffrey MR,Leila MV,et al.Intellectual developmental disorders:towards a new name,definition and framework for 'mental retardation/intellectual disability' in ICD-11[J].World Psychiatry,2011,10(3):175-180. [2] Moeschler JB.Medical genetics diagnostic evaluation of the child with globaldevelopmental delay or intellectual disability[J].Curr Opin Neurol,2008,21(2):117-122. [3] Guo L,Li BX,Deng M,et al.Etiological analysis of neurodevelopmental disabilities:single-center eight-year clinical experience in south China[J].J Biomed Biotechnol,2011,doi:10.1155/2011/318616. [4] Stevenson RE,Procopio-Allen AM,Schoroer RJ,et al.Genetic syndromes among individuals with mental retardation[J].Am J Med Genet A,2003,123A:29-32. [5] Harada N,Hatchwell E,Okamoto N,et al.Subtelomere specific microarray based comparative genomic hybridisation:a rapid detection system for cryptic rearrangements in idiopathic mental retardation[J].J Med Genet,2004,41:130-136. [6] Inlow JK,Restifo LL.Molecular and comparative genetics of mental retardation[J].Genetics,2004,166(2):835-881. [7] Tsai LP,Lee KF,Fang JS,et al.Molecular cytogenetic analysis and clinical manifestations of a case with de novo mosaic ring chromosome 7[J].Molecular Cytogenetics,2011,4:5-9. [8] Iourov IY,Vorsanova SG,Yurov YB,et al.Molecular cytogenetics and cytogenomics of brain diseases[J].Current Genomics,2008,9:452-465. [9] Gijsbers AC,Hollander NS,Helderman-van de Enden AT,et al.X-chromosome duplications in males with mental retardation:pathogenic or benign variants?[J].Clin Genet,2011,79(1):71-78. [10] Khan MA,Rafiq MA,Noor A,et al.A novel deletion mutation in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability[J].BMC Med Genet,2011,12:56-59. [11] Rooms LE,Reyniers.Subtelomeric rearrangements in the mentally retarded:a comparison of detection methods[J].Hum Muta,2005,25(6):513-524. [12] Wu Y,Ji T,Wang J,et al.Submicroscopic subtelomeric aberrations in Chinese patients with unexplained developmental delay/mental retardation[J].BMC Med Genet,2010,5(11):72-84. [13] Redon R,Ishikawa S,Fitch KR,et al.Global variation in copy number in the human genome[J].Nature,2006,444:444-454. [14] Lee C,Iafrate AJ,Brothman AR,et al.Copy number variations andclinical cytogenetie diagnosis of cormtitutional disorders[J].Nat Genet,2007,39(S):48-54. [15] Bernardini L,Alesi V,Loddo S,et al.High-resolution SNP arrays in mental retardation diagnostics:how much do we gain?[J].Eur J Hum Genet,2010,18:178-185. [16] David SC.Copy number variation and schizophrenia[J].Schizophrenia Bulletin,2009,35(1):9-12. [17] Need AC,Ge D,Weale ME,et al.A genome-wide investigation of SNPs and CNVs in schizophrenia[J].PLoS Genet,2009,5(2):e1000373. [18] Kuang SQ,Guo DC,Prakash SK,et al.Recurrent chromosome 16p13.1 duplications are a risk factor for aortic dissections[J].PLoS Genet,2011,7(6):e1002118. [19] Gijsbers AC,Lew JY,Bosch CA,et al.A new diagnositic workflow for patients with mental retardation and/or multiple congentital abnormalities:test arrays first[J].Eur J Hum Genet,2009,17:1394-1402. [20] Jayne YH,Nienke W,Caleb W,et al.Accurate distinction of pathogenic from benign CNVs in mental retardation[J].PLoS Comput Biol,2010,6(4):e1000752. [21] Buysse K,Delle Chiaie B,Van Coster R,et al.Challenges for CNV interpretation in clinical molecular karyotyping:Lessons learned from a 1001 sample experience[J].Eur J Med Genet,2009,52:398-403. [22] Xie C,Tammi MT.CNV-seq,a new method to detect copy number variation using high-throughput sequencing[J].BMC Bioinformatics,2009,10:80-85. |
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