出处
《中国实用儿科杂志》
CSCD
北大核心
2004年第6期374-376,共3页
Chinese Journal of Practical Pediatrics
基金
国家自然科学基金 (3 0 2 70 72 7)
参考文献19
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1Knight SJL,Flint J.Perfect ending:a review of subtelomeric probes and their use in clinical diagnosis.J Med Genet,2000,37:401-409
-
2Flint J,Bates GP,Clarc K,et al.Sequence of comparison of human and yeast telomeres identifies structurally distinct subtelomeric domain.Hum Mol Genet,1997,6:1305-1313
-
3Riethman H,Xiang Z,Paul S,et al.Integration of telomere sequences with the draft human genome sequence.Nature,2001,409:948-950
-
4Flint J,Thomas K,Micklem G,et al.The relationship between chromosome structure and function at a human telomeric region.Nat Genet,1997,15:252-257
-
5Viot G,Gosset P,Fert S,et al.Cryptic subtelomeric rearrangement detected by FISH in mentally retarded and dysmorphic patients.Am J Hum Genet,,1998,63(suppl):A10
-
6Vorsanova SG,Koloti D,Sharonin VO,et al.FISH analysis of microaberration at telomeric and subtelomeric regions in chromosomes of children with mental retardation.Am J Hum Genet,1998,65(suppl):A154
-
7Knight SJL,Regan R,Nicod A,et al.Subtle chromosomal rearrangments in children with unexplained mental retardation.Lancet,1999,354:1676-1681
-
8Hlias-Rodzewicz Z,Bocian Z,Stankiewicz Z.Subtelomeric rearrangements detected by FISH in three of 33 families with idiopathic mental retardation and minor physical anomalies.J Med Genet,2002,39:e53
-
9Baralle D.Chromosomal aberrations,subtelomeric defects,and mental retardation.Lancet,2001,358:7-8
-
10De VriesBBA,White SM,Knight SJL,et al.Clinical studies on submicroscopic subtelomeric rearrangements:a checklist.J Med Genet,2001,38:145-150
同被引文献8
-
1Yatsenko SA,Brundage EK,Roney EK,et al.Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome[J].Human Mol Genet,2009,18:1924-1936.
-
2Balemans MC,Ansar M,Oudakker AR,et al.Reduced euchromatin histone methyltransferase 1 causes developmental delay,hypotonia,and cranial abnormalities associated with increased bone gene expression in Kleefstra syndrome mice[J].Dev Biol,2014,386:395-407.
-
3Knight SJ,Regan R,Nicod A,et al.Subtle chromosomal rearrangements in children with unexplained mental retardation[J].Lancet,1999,354:1676-1681.
-
4Kleefstra T,Smidt M,Banning MJ,et al.Disruption of the gene euchromatin histone methyl transferasel (Eu-HMTasel) is associated with the 9q34 subtelomeric deletion syndrome[J].J Med Genet,2005,42:299-306.
-
5Willemsen MH,Vulto-van Silfhout AT,Nillesen WM,et al.Update on Kleefstra syndrome[J].Mol syndromol,2011,2:202-212.
-
6Willemsen MH,Beunders G,Callaghan M,et al.Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions[J].Clin Genet,2011,80:31-38.
-
7季涛云,吴晔,王静敏,肖静,王慧芳,李洁,赵海娟,杨艳玲,秦炯,吴希如,姜玉武.检测不明原因智力障碍/脑发育迟缓儿染色体亚端粒重组突变[J].国际生殖健康／计划生育杂志,2011,30(3):173-177. 被引量：5
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8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. 被引量：5
二级引证文献3
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1吕楠,李东晓,李靖婕,尚清,马彩云.Kleefstra综合征1型并9号环状染色体一例[J].中华医学遗传学杂志,2019,36(8):837-840. 被引量：1
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2龚育红,朱晓明,李雯,董桂珍,徐彪,赵红玲.三例Kleefstra综合征患儿的基因变异分析[J].中华医学遗传学杂志,2021,38(4):347-350.
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3周陶成,童光磊,朱丽娟,李少新,李红,董文旭.三例Kleefstra综合征患儿临床和遗传学分析[J].中华医学遗传学杂志,2022,39(2):148-151.
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1陈光财,李倩.早期综合干预对首发精神分裂症患者预后影响分析[J].解放军预防医学杂志,2016,34(S1):28-28. 被引量：4
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2申万红.脑梗死患者合并易发病进展的原因[J].中国医药指南,2010,8(13):195-196. 被引量：1
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3沈盈,俞惠民.一氧化氮及诱导型一氧化氮合酶与早产儿脑室周围白质软化[J].国际儿科学杂志,2006,33(1):55-57. 被引量：2
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4陈锋,高雅娟,李纯颖,让蔚清,龙鼎新.湖南株洲攸县某村智力残疾病因学研究[J].中国公共卫生,2002,18(7):840-841. 被引量：1
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5游咏,成志.原发性脑出血患者的预后与发病24h内平均动脉血压的关系[J].南华大学学报（医学版）,2001,29(1):32-33.
-
6杨宏彦,王晓民.帕金森病动物模型:揭开人类帕金森病奥秘的钥匙[J].生命科学,2002,14(5):275-278. 被引量：3
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7郑丽华,陈阳美.苔藓纤维出芽机制研究进展[J].卒中与神经疾病,2005,12(5):309-311. 被引量：3
-
8李力.宫颈炎为何反复发作[J].家庭医药（就医选药）,2009(3):53-53.
-
9铜铁摄入过量增加老年痴呆风险[J].中华妇幼临床医学杂志（电子版）,2011,7(3):180-180.
