Abnormal circadian rhythm of melatonin in Smith-Magenis syndrome patients with RAI1 point mutations.
作者信息
Boone Philip M, Reiter Russel J, Glaze Daniel G, Tan Dun-Xian, Lupski James R, Potocki Lorraine
机构信息
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
出版信息
Am J Med Genet A. 2011 Aug;155A(8):2024-7. doi: 10.1002/ajmg.a.34098. Epub 2011 Jul 7.
Abstract
摘要
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Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models.拷贝数变异的表型后果：来自 Smith-Magenis 和 Potocki-Lupski 综合征小鼠模型的见解。
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Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases.史密斯-马吉尼斯综合征的性别、基因型和表型差异：105例病例的荟萃分析
Clin Genet. 2007 Jun;71(6):540-50. doi: 10.1111/j.1399-0004.2007.00815.x.
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RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome.非缺失型史密斯-马吉尼斯综合征中的RAI1点突变、CAG重复变异及单核苷酸多态性分析
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Inverted rhythm of melatonin secretion in Smith-Magenis syndrome: from symptoms to treatment.史密斯-马吉尼斯综合征中褪黑素分泌的倒置节律：从症状到治疗
Trends Endocrinol Metab. 2006 Sep;17(7):291-8. doi: 10.1016/j.tem.2006.07.007. Epub 2006 Aug 4.
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Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum.史密斯-马吉尼斯综合征的基因型-表型相关性：17p11.2区域多个基因对临床谱有贡献的证据
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Neurologic and developmental features of the Smith-Magenis syndrome (del 17p11.2).史密斯-马吉尼斯综合征（17p11.2缺失）的神经学和发育特征。
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RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions.无17p11.2缺失的史密斯-马吉尼斯综合征患者的RAI1基因变异
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