Array analysis and molecular studies of INI1 in an infant with deletion 22q13 (Phelan-McDermid syndrome) and atypical teratoid/rhabdoid tumor.
作者信息
Sathyamoorthi Shyam, Morales Jaime, Bermudez Jose, McBride Lori, Luquette Mark, McGoey Robin, Oates Nora, Hales Stephen, Biegel Jaclyn A, Lacassie Yves
机构信息
Volunteer student at Children's Hospital currently pre-med student at Tulane University, New Orleans, Louisiana 70118, USA.
出版信息
Am J Med Genet A. 2009 May;149A(5):1067-9. doi: 10.1002/ajmg.a.32775.
Abstract
摘要
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Array analysis and molecular studies of INI1 in an infant with deletion 22q13 (Phelan-McDermid syndrome) and atypical teratoid/rhabdoid tumor.对一名患有22q13缺失（费伦-麦克德米德综合征）及非典型畸胎样/横纹肌样瘤的婴儿进行INI1的阵列分析和分子研究。
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本文引用的文献
1
Deletion 22q13.3 syndrome.22q13.3缺失综合征
Orphanet J Rare Dis. 2008 May 27;3:14. doi: 10.1186/1750-1172-3-14.
2
22q13.3 deletion syndrome: a recognizable malformation syndrome associated with marked speech and language delay.22q13.3缺失综合征：一种与明显言语和语言发育迟缓相关的可识别的畸形综合征。
Am J Med Genet C Semin Med Genet. 2007 Nov 15;145C(4):393-8. doi: 10.1002/ajmg.c.30155.
3
The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome.后基因组时代微缺失综合征的发现：新的1q41q42微缺失综合征的方法学及特征综述
Genet Med. 2007 Sep;9(9):607-16. doi: 10.1097/gim.0b013e3181484b49.
4
Central nervous system atypical teratoid/rhabdoid tumor: results of therapy in children enrolled in a registry.中枢神经系统非典型畸胎样/横纹肌样瘤：登记注册儿童的治疗结果
J Clin Oncol. 2004 Jul 15;22(14):2877-84. doi: 10.1200/JCO.2004.07.073.
5
Immunohistochemical analysis of hSNF5/INI1 in pediatric CNS neoplasms.小儿中枢神经系统肿瘤中hSNF5/INI1的免疫组织化学分析
Am J Surg Pathol. 2004 May;28(5):644-50. doi: 10.1097/00000478-200405000-00013.
6
7
Germ-line and acquired mutations of INI1 in atypical teratoid and rhabdoid tumors.非典型畸胎样和横纹肌样肿瘤中INI1的种系突变和获得性突变。
Cancer Res. 1999 Jan 1;59(1):74-9.
8
Atypical teratoid/rhabdoid tumor of the central nervous system: a highly malignant tumor of infancy and childhood frequently mistaken for medulloblastoma: a Pediatric Oncology Group study.中枢神经系统非典型畸胎样/横纹肌样瘤：一种婴幼儿期高度恶性肿瘤，常被误诊为髓母细胞瘤：一项儿科肿瘤学组研究
Am J Surg Pathol. 1998 Sep;22(9):1083-92. doi: 10.1097/00000478-199809000-00007.
9
Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer.侵袭性儿童癌症中hSNF5/INI1的截短突变
Nature. 1998 Jul 9;394(6689):203-6. doi: 10.1038/28212.
10
Central nervous system atypical teratoid/rhabdoid tumors of infancy and childhood: definition of an entity.婴幼儿及儿童中枢神经系统非典型畸胎样/横纹肌样肿瘤：一种实体的定义
J Neurosurg. 1996 Jul;85(1):56-65. doi: 10.3171/jns.1996.85.1.0056.
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