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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。
Am J Med Genet A. 2009 May;149A(5):1067-9. doi: 10.1002/ajmg.a.32775.
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A complex karyotype in an atypical teratoid/rhabdoid tumor: case report and review of the literature.复杂核型的非典型畸胎瘤/横纹肌样瘤：病例报告及文献复习。
J Neurooncol. 2011 Aug;104(1):375-80. doi: 10.1007/s11060-010-0478-0. Epub 2010 Dec 3.
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Atypical teratoid/rhabdoid tumor: short clinical description and insight into possible mechanism of the disease.非典型畸胎样/横纹肌样瘤：简短的临床描述和对疾病可能机制的深入了解。
Eur J Neurol. 2011 Jun;18(6):813-8. doi: 10.1111/j.1468-1331.2010.03277.x. Epub 2010 Dec 16.
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Description of a new oncogenic mechanism for atypical teratoid rhabdoid tumors in patients with ring chromosome 22.22号环状染色体患者非典型畸胎样横纹肌样瘤的一种新致癌机制描述
Am J Med Genet A. 2017 Jan;173(1):245-249. doi: 10.1002/ajmg.a.37993. Epub 2016 Oct 12.
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Atypical teratoid/rhabdoid tumor of the pineal region in an adult.成人松果体区非典型畸胎样/横纹肌样肿瘤。
J Neurosurg. 2010 Aug;113(2):374-9. doi: 10.3171/2009.10.JNS09964.
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Diagnosis of distal 22q11.2 deletion syndrome in a patient with a teratoid/rhabdoid tumour.一名患有畸胎样/横纹肌样肿瘤患者的22q11.2远端缺失综合征的诊断
Eur J Med Genet. 2011 May-Jun;54(3):295-8. doi: 10.1016/j.ejmg.2010.12.007. Epub 2010 Dec 25.
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Atypical teratoid/rhabdoid tumor of the brain in an adult with 22q deletion but no absence of INI1 protein: a case report and review of the literature.
Folia Neuropathol. 2015;53(1):80-5. doi: 10.5114/fn.2015.49977.
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Integrated genomics has identified a new AT/RT-like yet INI1-positive brain tumor subtype among primary pediatric embryonal tumors.整合基因组学在原发性儿童胚胎性肿瘤中鉴定出一种新的、类似非典型畸胎瘤/横纹肌样瘤（AT/RT）但INI1呈阳性的脑肿瘤亚型。
BMC Med Genomics. 2015 Jun 25;8:32. doi: 10.1186/s12920-015-0103-3.
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[Atypical teratoid/rhabdoid tumors of childhood].[儿童非典型畸胎样/横纹肌样肿瘤]
Arkh Patol. 2013 Sep-Oct;75(5):36-42.
引用本文的文献
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Updated consensus guidelines on the management of Phelan-McDermid syndrome.《关于 Phelan-McDermid 综合征管理的更新共识指南》。
Am J Med Genet A. 2023 Aug;191(8):2015-2044. doi: 10.1002/ajmg.a.63312. Epub 2023 Jul 1.
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Head Size in Phelan-McDermid Syndrome: A Literature Review and Pooled Analysis of 198 Patients Identifies Candidate Genes on 22q13.头围大小在 22q13 上确定 Phelan-McDermid 综合征的候选基因：198 例患者的文献回顾和汇总分析
Genes (Basel). 2023 Feb 21;14(3):540. doi: 10.3390/genes14030540.
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Whole-genome sequencing analysis of an atypical teratoid/rhabdoid tumor in a patient with Phelan-McDermid syndrome: a case report and systematic review.Phelan-McDermid 综合征患者非典型畸胎样/横纹肌样瘤的全基因组测序分析：病例报告和系统评价。
Brain Tumor Pathol. 2022 Oct;39(4):232-239. doi: 10.1007/s10014-022-00440-7. Epub 2022 Jun 24.
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State of the Science for Kidney Disorders in Phelan-McDermid Syndrome: UPK3A, FBLN1, WNT7B, and CELSR1 as Candidate Genes.佩兰-麦克德米德综合征肾脏疾病的科学现状：UPK3A、FBLN1、WNT7B 和 CELSR1 作为候选基因。
Genes (Basel). 2022 Jun 10;13(6):1042. doi: 10.3390/genes13061042.
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Case Report: The Emerging Role of Ring Chromosome 22 in Phelan-McDermid Syndrome With Atypical Teratoid/Rhabdoid Tumor: The First Child Treated With Growth Hormone.病例报告：22号环状染色体在伴有非典型畸胎样/横纹肌样肿瘤的费兰-麦克德米德综合征中的新作用：首例接受生长激素治疗的患儿
Front Neurol. 2021 Oct 29;12:741062. doi: 10.3389/fneur.2021.741062. eCollection 2021.
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Description of a new oncogenic mechanism for atypical teratoid rhabdoid tumors in patients with ring chromosome 22.22号环状染色体患者非典型畸胎样横纹肌样瘤的一种新致癌机制描述
Am J Med Genet A. 2017 Jan;173(1):245-249. doi: 10.1002/ajmg.a.37993. Epub 2016 Oct 12.
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Atypical teratoid rhabdoid brain tumor in an infant with ring chromosome 22.一名患有22号环状染色体的婴儿患非典型畸胎样横纹肌样脑肿瘤。
Korean J Pediatr. 2014 Jul;57(7):333-6. doi: 10.3345/kjp.2014.57.7.333. Epub 2014 Jul 23.
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The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome).22q13.3缺失综合征（费兰-麦克德米德综合征）
Mol Syndromol. 2012 Apr;2(3-5):186-201. doi: 10.1159/000334260. Epub 2011 Nov 22.
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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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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