Sotos syndrome.
作者信息
Holla R G, Prasad A N
机构信息
Consultant (Neonatology), Fortis Hospital, Shalimar Bagh, New Delhi.
Classified Specialist (Paediatrics), CH Chandimandir, Panchkula, Haryana.
出版信息
Med J Armed Forces India. 2011 Jul;67(3):288-90. doi: 10.1016/S0377-1237(11)60067-1. Epub 2011 Aug 7.
Abstract
摘要
相似文献
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Sotos syndrome.索托斯综合征
Med J Armed Forces India. 2011 Jul;67(3):288-90. doi: 10.1016/S0377-1237(11)60067-1. Epub 2011 Aug 7.
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Disrupted epigenetics in the Sotos syndrome neurobehavioral phenotype.Sotos 综合征神经行为表型中的表观遗传学失调。
Curr Opin Psychiatry. 2019 Mar;32(2):55-59. doi: 10.1097/YCO.0000000000000481.
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Cognition and Behaviour in Sotos Syndrome: A Systematic Review.索托斯综合征的认知与行为：一项系统综述。
PLoS One. 2016 Feb 12;11(2):e0149189. doi: 10.1371/journal.pone.0149189. eCollection 2016.
4
Spectrum of NSD1 mutations in Sotos and Weaver syndromes.索托斯综合征和韦弗综合征中 NSD1 突变谱。
J Med Genet. 2003 Jun;40(6):436-40. doi: 10.1136/jmg.40.6.436.
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Exploring the approximate number system in Sotos syndrome: insights from a dot comparison task.探索 Sotos 综合征中的近似数量系统：来自点比较任务的启示。
J Intellect Disabil Res. 2019 Aug;63(8):917-925. doi: 10.1111/jir.12604. Epub 2019 Feb 7.
6
Cervical instability in Sotos syndrome: a case report.索托斯综合征中的颈椎不稳：一例报告
Spine (Phila Pa 1976). 2004 Apr 1;29(7):E153-6. doi: 10.1097/01.brs.0000116996.95518.f7.
7
Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes.NSD1基因的突变是导致索托斯综合征的原因，但在其他过度生长表型中并不常见。
Eur J Hum Genet. 2003 Nov;11(11):858-65. doi: 10.1038/sj.ejhg.5201050.
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The cognitive profile of Sotos syndrome.Sotos 综合征的认知特征。
J Neuropsychol. 2019 Jun;13(2):240-252. doi: 10.1111/jnp.12146. Epub 2018 Jan 15.
9
Accelerated linear growth and advanced bone age in Sotos syndrome is not associated with abnormalities of collagen metabolism.索托斯综合征中加速的线性生长和骨龄提前与胶原代谢异常无关。
Clin Biochem. 1998 Jun;31(4):241-9. doi: 10.1016/s0009-9120(98)00023-x.
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Chronic renal failure in a patient with Sotos syndrome due to autosomal dominant polycystic kidney disease.一名患有常染色体显性多囊肾病的索托斯综合征患者出现慢性肾衰竭。
Int J Clin Pract. 2002 May;56(4):316-8.
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Children (Basel). 2023 Jun 26;10(7):1111. doi: 10.3390/children10071111.
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Biotinidase Deficiency With Suspected Sotos Syndrome: A Rare Entity.伴有疑似索托斯综合征的生物素酶缺乏症：一种罕见病症。
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本文引用的文献
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A clinical study of Sotos syndrome patients with review of the literature.索托斯综合征患者的临床研究及文献综述
Pediatr Neurol. 2009 May;40(5):357-64. doi: 10.1016/j.pediatrneurol.2008.11.013.
2
Sotos syndrome caused by a paracentric inversion disrupting the NSD1 gene.由臂内倒位破坏NSD1基因引起的索托斯综合征。
Clin Genet. 2008 Jan;73(1):89-91. doi: 10.1111/j.1399-0004.2007.00916.x. Epub 2007 Nov 27.
3
Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome.116例索托斯综合征患者中NSD1改变的异质性。
Hum Mutat. 2007 Nov;28(11):1098-107. doi: 10.1002/humu.20568.
4
Psychosocial, cognitive, and motor functioning in patients with suspected Sotos syndrome: a comparison between patients with and without NSD1 gene alterations.疑似索托斯综合征患者的心理社会、认知和运动功能：有无NSD1基因改变患者之间的比较。
Dev Med Child Neurol. 2006 Jul;48(7):582-8. doi: 10.1017/S0012162206001228.
5
NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratory.索托斯综合征的 NSD1 分析：临床实验室的见解与观点
Genet Med. 2005 Oct;7(8):524-33. doi: 10.1097/01.GIM.0000178503.15559.d3.
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Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations.索托斯综合征的基因型-表型关联：对266例NSD1畸变个体的分析
Am J Hum Genet. 2005 Aug;77(2):193-204. doi: 10.1086/432082. Epub 2005 Jun 7.
7
Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth.对一组59例先天性过度生长患者的NSD1基因进行突变分析。
Am J Med Genet A. 2005 Apr 30;134(3):247-53. doi: 10.1002/ajmg.a.30492.
8
Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome.贝克威思-维德曼综合征中的矛盾性NSD1突变与索托斯综合征中的11p15异常。
Am J Hum Genet. 2004 Apr;74(4):715-20. doi: 10.1086/383093. Epub 2004 Mar 1.
9
CEREBRAL GIGANTISM IN CHILDHOOD. A SYNDROME OF EXCESSIVELY RAPID GROWTH AND ACROMEGALIC FEATURES AND A NONPROGRESSIVE NEUROLOGIC DISORDER.儿童脑性巨人症。一种生长过速及肢端肥大症特征与非进行性神经疾病的综合征。
N Engl J Med. 1964 Jul 16;271:109-16. doi: 10.1056/NEJM196407162710301.
10
Sotos syndrome: a study of the diagnostic criteria and natural history.索托斯综合征：诊断标准与自然病史研究
J Med Genet. 1994 Jan;31(1):20-32. doi: 10.1136/jmg.31.1.20.
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