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The Coffin-Lowry syndrome.

作者信息

Young I D

机构信息

Department of Child Health, Leicester Royal Infirmary.

出版信息

J Med Genet. 1988 May;25(5):344-8. doi: 10.1136/jmg.25.5.344.

DOI:10.1136/jmg.25.5.344
PMID:3290491
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1050463/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fc53/1050463/19bf4cfc17b2/jmedgene00067-0057-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fc53/1050463/a2e9ccde3d28/jmedgene00067-0057-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fc53/1050463/19bf4cfc17b2/jmedgene00067-0057-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fc53/1050463/a2e9ccde3d28/jmedgene00067-0057-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fc53/1050463/19bf4cfc17b2/jmedgene00067-0057-b.jpg

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The Coffin-Lowry syndrome.科芬-洛里综合征
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[Coffin-Lowry syndrome. Description of a clinical case].[科芬-洛里综合征。一例临床病例描述]
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How wide is the clinical spectrum of the acrocallosal syndrome? Report of a mild case.胼胝体发育不全综合征的临床谱有多广?1例轻症报告。
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本文引用的文献

1
Brief clinical report: early recognition of the Coffin-Lowry syndrome.简要临床报告:科芬-洛里综合征的早期识别
Am J Med Genet. 1981;8(2):215-20. doi: 10.1002/ajmg.1320080212.
2
The Coffin-Lowry syndrome. Experience from four centres.考芬-洛里综合征。来自四个中心的经验。
Clin Genet. 1982 May;21(5):321-35. doi: 10.1111/j.1399-0004.1982.tb01379.x.
3
Orodental findings and genetic disorders.口腔牙齿检查结果与遗传疾病
PLoS One. 2007 Jan 17;2(1):e151. doi: 10.1371/journal.pone.0000151.
4
The S6KII (rsk) gene of Drosophila melanogaster differentially affects an operant and a classical learning task.果蝇的S6KII(rsk)基因对操作性学习任务和经典学习任务有不同影响。
J Neurosci. 2004 Nov 3;24(44):9745-51. doi: 10.1523/JNEUROSCI.3211-04.2004.
5
Unusual splice-site mutations in the RSK2 gene and suggestion of genetic heterogeneity in Coffin-Lowry syndrome.RSK2基因中异常的剪接位点突变及科芬-洛里综合征的遗传异质性提示
Am J Hum Genet. 2002 Jun;70(6):1421-33. doi: 10.1086/340607. Epub 2002 Apr 25.
6
RSK2 represses HSF1 activation during heat shock.在热休克期间,RSK2抑制HSF1的激活。
Cell Stress Chaperones. 2000 Nov;5(5):432-7. doi: 10.1379/1466-1268(2000)005<0432:rrhadh>2.0.co;2.
7
Altered extracellular signal-regulated kinase signaling and glycogen metabolism in skeletal muscle from p90 ribosomal S6 kinase 2 knockout mice.p90核糖体S6激酶2基因敲除小鼠骨骼肌中细胞外信号调节激酶信号传导及糖原代谢的改变
Mol Cell Biol. 2001 Jan;21(1):81-7. doi: 10.1128/MCB.21.1.81-87.2001.
8
A unique form of mental retardation with a distinctive phenotype maps to Xq26-q27.一种具有独特表型的独特形式的智力迟钝定位于Xq26 - q27。
Am J Hum Genet. 2000 Feb;66(2):469-79. doi: 10.1086/302772.
9
Mutation analysis of the RSK2 gene in Coffin-Lowry patients: extensive allelic heterogeneity and a high rate of de novo mutations.科芬-洛里综合征患者中RSK2基因的突变分析:广泛的等位基因异质性和高频率的新发突变。
Am J Hum Genet. 1998 Dec;63(6):1631-40. doi: 10.1086/302153.
10
Rapid immunoblot and kinase assay tests for a syndromal form of X linked mental retardation: Coffin-Lowry syndrome.针对一种X连锁智力障碍综合征形式——科芬-洛里综合征的快速免疫印迹和激酶检测。
J Med Genet. 1998 Nov;35(11):890-4. doi: 10.1136/jmg.35.11.890.
Birth Defects Orig Artic Ser. 1982;18(1):79-120.
4
Coffin-Lowry syndrome in an Afro-American family.
Am J Med Genet. 1982 Mar;11(3):373-5. doi: 10.1002/ajmg.1320110317.
5
Abnormal proteodermatan sulfate in three patients with Coffin-Lowry syndrome.三名患有科芬-洛里综合征患者的异常硫酸皮肤素蛋白聚糖
Pediatr Res. 1983 Nov;17(11):926-9. doi: 10.1203/00006450-198311000-00018.
6
The Coffin-Lowry syndrome. A study of two new index patients and their families.
Eur J Pediatr. 1984 Dec;143(2):82-6. doi: 10.1007/BF00445790.
7
Forearm fullness in Coffin-Lowry syndrome: a misleading yet possible early diagnostic clue.科芬-洛里综合征中的前臂丰满:一个具有误导性但可能的早期诊断线索。
Am J Med Genet. 1984 Jun;18(2):195-9. doi: 10.1002/ajmg.1320180203.
8
A new dominant gene mental retardation syndrome. Association with small stature, tapering fingers, characteristic facies, and possible hydrocephalus.一种新的显性基因所致智力发育迟缓综合征。与身材矮小、手指细长、特殊面容以及可能的脑积水相关。
Am J Dis Child. 1971 Jun;121(6):496-500.
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[The coffin, Siris, Wegienka syndrome].[棺材,西里斯,韦吉恩卡综合征]
G Psichiatr Neuropatol. 1969;97(3):449-58.
10
Mental retardation, abnormal fingers, and skeletal anomalies: Coffin's syndrome.
Am J Dis Child. 1972 Aug;124(2):258-61. doi: 10.1001/archpedi.1972.02110140108016.