[1] Marshall S,Teasell R,Bayona N,et al.Motor impairment rehabilitation post acquired brain injury[J].Brain Inj,2007,21(2):133-160.
[2] Caine A,Maltby AE,Pakin CA,et al.UK Association of Clinical Cytogenticists(ACC).Prenatal detection of Down's syndrome by rapid aneuploidy testing for chromosomes 13,18 and 21 by FISH or PCR without a full karyotype:a cytogenetic risk assessment[J].Lancet, 2005,366:123-128.
[3] Rai AK,Singh S,Mehta S,et al.MTHFR C677T and A1298C polymorphisms are risk factors for Down's syndrome in Indian mothers[J].J Hum Genet,2006,51(4):278-283.
[4] Acacio GL,Barini R,Bertuzzo CS,et al.Methylenetetra hydrofolate reductase gene polymorphisms and their associationwith trisomy 21[J].Prenat Diagn,2005,25(13):1196-1199.
[5] Silva LR,Vergani N,GaldieriLde C,et al.Relationship between polymorphisms in genes involved in homocysteine metabolism and maternal risk for Down syndrome in Brazil[J].Am J Med Genet A,2005,135(3):263-267. [6] Farina A,LeShane ES,Lambert-Messerlian GM,et al.Evaluation of cell-free fetal DNA as a second-trimester matertal serum arker of Down syndrome pregnancy[J].Clin Chem,2003,49:239-242.
[7] 王靖,陈汉平.唐氏综合征高危孕妇血浆游离胎儿DNA 的检测[J].中国优生与遗传杂志,2011,19(1):33-34.
[8] Miller JL,Lynn CH,Driscoll DC,et al.Nutritional phases in Prader-Willi syndrome[J].Am J Med Genet A,2011,155A(5):1040-1049.
[9] 朱丽娜,何玺玉,王春枝,等.Prader-Willi综合征的分子遗传学的诊断与机制研究[J].山西医科大学学报,2008,39(12):1064-1067.
[10] Lorson CL,Rindt H,Shababi M.Spinalmuscular atrophy:mechanisms and therapeutic strategies[J].Hum Mol Genet,2010,19(R1):111-118.
[11] Park GH,Kariya S,Monani UR.Spinalmuscul aratrophy:new and emerging insights from modelmice[J].Curr Neurol Neurosci Rep,2010,10(2):108-117.
[12] Kang SH,Cho SI,Chae JH,et al.False homozygous deletions of SMN1 exon 7 using Dra I PCR-RFLP caused by a novel mutation in spinal muscular atrophy[J].Genet Test Mol Biomarkers,2009,13(4):511-513.
[13] Klein AF,Gasnier E,Furling D.Gain of RNA function in pathological cases:Focus on myotonic dystrophy[J].Biochimie,2011,93(11):1-7.
[14] Sparks SE,Escolar DM.Congenital muscular dystrophies[J].Handb Clin Neurol,2011,101:47-79.
[15] Sarkissian CN,Gámez A,Scriver CR.What we know that could influence future treatment of phenylketonuria[J].J Inherit Metab Dis,2009,32(1):3-9.
[16] Filipowicz HR,Emst SL,Carrie L,et al.Metabolic changes associatedwith hyperammonemia in patients with propionic academia[J].J Mol Genet Metab,2006,88:123-130.
[17] Tucker EJ,Compton AG,Thorburn DR.Recent advances in the genetics of mitochondrial encephalopathies[J].Curr Neurol Neurosci Rep,2010,10:277-285.
[18] Ronchi D,Cosi A,Tonduti D,et al.Clinical and molecular features of an infant patient affected by leigh disease associated to m.14459G>A mitochondrial DNA mutation:a case report[J].BMC Neurol,2011,12:11-85.
[19] Kartikasalwah A,Lh N.Leigh syndrome:MRI findings in two children[J].Biomed Imaging Interv J,2010,6(1):6-10. |
