Williams syndrome starts making sense.
作者信息
Ashkenas J
出版信息
Am J Hum Genet. 1996 Oct;59(4):756-61.
Abstract
摘要
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The elastin gene is disrupted in a family with a balanced translocation t(7;16)(q11.23;q13) associated with a variable expression of the Williams-Beuren syndrome.在一个患有与威廉姆斯-贝伦综合征可变表达相关的平衡易位t(7;16)(q11.23;q13)的家族中，弹性蛋白基因被破坏。
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[Genetic diagnosis of Williams syndrome].[威廉姆斯综合征的基因诊断]
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本文引用的文献
1
7q11.23 deletions in Williams syndrome arise as a consequence of unequal meiotic crossover.威廉姆斯综合征中的7q11.23缺失是减数分裂时不等交换的结果。
Am J Hum Genet. 1996 Oct;59(4):958-62.
2
Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth.威廉姆斯综合征中7号染色体缺失的分子定义及亲本来源对生长的影响。
Am J Hum Genet. 1996 Oct;59(4):781-92.
3
LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition.LIM激酶1半合子不足与视觉空间建构认知受损有关。
Cell. 1996 Jul 12;86(1):59-69. doi: 10.1016/s0092-8674(00)80077-x.
4
LIM-kinase deleted in Williams syndrome.威廉姆斯综合征中缺失的LIM激酶。
Nat Genet. 1996 Jul;13(3):272-3. doi: 10.1038/ng0796-272.
5
Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis.人类单亲二体：印记图谱的发展及其对产前诊断的意义。
Hum Mol Genet. 1995;4 Spec No:1757-64. doi: 10.1093/hmg/4.suppl_1.1757.
6
A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis.弹性蛋白基因内一个30 kb的缺失导致家族性主动脉瓣上狭窄。
Hum Mol Genet. 1995 Sep;4(9):1677-9. doi: 10.1093/hmg/4.9.1677.
7
Identification and characterization of a novel family of serine/threonine kinases containing two N-terminal LIM motifs.一个包含两个N端LIM基序的新型丝氨酸/苏氨酸激酶家族的鉴定与特征分析。
J Biol Chem. 1995 Dec 29;270(52):31321-30. doi: 10.1074/jbc.270.52.31321.
8
Supravalvular aortic stenosis cosegregates with a familial 6; 7 translocation which disrupts the elastin gene.瓣上主动脉狭窄与一种家族性6；7易位共同分离，该易位破坏了弹性蛋白基因。
Am J Med Genet. 1993 Jul 1;46(6):737-44. doi: 10.1002/ajmg.1320460634.
9
PKC gamma mutant mice exhibit mild deficits in spatial and contextual learning.蛋白激酶Cγ突变小鼠在空间和情境学习方面表现出轻微缺陷。
Cell. 1993 Dec 31;75(7):1263-71. doi: 10.1016/0092-8674(93)90614-v.
10
Modified hippocampal long-term potentiation in PKC gamma-mutant mice.蛋白激酶Cγ突变小鼠中修饰的海马长时程增强效应
Cell. 1993 Dec 31;75(7):1253-62. doi: 10.1016/0092-8674(93)90613-u.
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