22q11.2 deletion syndrome: A tiny piece leading to a big picture.
作者信息
McDonald-McGinn Donna M
机构信息
22q and You Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Clinical Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
出版信息
Am J Med Genet A. 2018 Oct;176(10):2055-2057. doi: 10.1002/ajmg.a.40653.
Abstract
摘要
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本文引用的文献
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Expanding the fetal phenotype: Prenatal sonographic findings and perinatal outcomes in a cohort of patients with a confirmed 22q11.2 deletion syndrome.扩展胎儿表型：一组经证实的 22q11.2 缺失综合征患者的产前超声表现及围产儿结局。
Am J Med Genet A. 2018 Aug;176(8):1735-1741. doi: 10.1002/ajmg.a.38665. Epub 2018 Jul 28.
2
Elucidating the diagnostic odyssey of 22q11.2 deletion syndrome.解析22q11.2缺失综合征的诊断历程。
Am J Med Genet A. 2018 Apr;176(4):936-944. doi: 10.1002/ajmg.a.38645.
3
Non-pharmacological treatment of psychiatric disorders in individuals with 22q11.2 deletion syndrome; a systematic review.22q11.2 缺失综合征个体的精神障碍的非药物治疗：系统评价。
Am J Med Genet A. 2018 Aug;176(8):1742-1747. doi: 10.1002/ajmg.a.38612. Epub 2018 Jan 24.
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22q11.2 deletion syndrome.22q11.2 缺失综合征。
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Practical guidelines for managing adults with 22q11.2 deletion syndrome.22q11.2缺失综合征成年患者管理实用指南。
Genet Med. 2015 Aug;17(8):599-609. doi: 10.1038/gim.2014.175. Epub 2015 Jan 8.
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Practical guidelines for managing patients with 22q11.2 deletion syndrome.22q11.2缺失综合征患者管理实用指南。
J Pediatr. 2011 Aug;159(2):332-9.e1. doi: 10.1016/j.jpeds.2011.02.039. Epub 2011 May 12.
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Multiplexed quantitative real-time PCR to detect 22q11.2 deletion in patients with congenital heart disease.多重实时定量 PCR 检测先天性心脏病患者 22q11.2 缺失。
Physiol Genomics. 2010 Sep;42A(1):52-60. doi: 10.1152/physiolgenomics.00073.2010. Epub 2010 Jun 15.
8
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Genet Med. 2001 Jan-Feb;3(1):23-9. doi: 10.1097/00125817-200101000-00006.
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