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Successful matched sibling cord blood transplant for ALL in a child with constitutional mismatch repair deficiency syndrome.

作者信息

Heath J A, Campbell M, Tiedemann K, Downie P A

机构信息

Department of Oncology, Sidra Medical and Research Center, Doha, Qatar.

Children's Cancer Centre, Royal Children's Hospital, Parkville, Victoria, Australia.

出版信息

Bone Marrow Transplant. 2016 Jun;51(6):848-9. doi: 10.1038/bmt.2015.353. Epub 2016 Jan 25.

DOI:10.1038/bmt.2015.353
PMID:26808570
Abstract
摘要

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Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort.先天性错配修复缺陷综合征：法国队列中的临床描述
J Med Genet. 2015 Nov;52(11):770-8. doi: 10.1136/jmedgenet-2015-103299. Epub 2015 Aug 28.
2
Management of Acute Myeloblastic Leukemia in a Child With Biallelic Mismatch Repair Deficiency.
J Pediatr Hematol Oncol. 2015 Nov;37(8):e490-3. doi: 10.1097/MPH.0000000000000415.
3
Lynch syndrome: an updated review.林奇综合征：更新综述。
A Constitutional Mismatch Repair Deficiency Syndrome Presented With an Advanced Rectal Cancer in a Juvenile Female: A Case Report and Literature Review.
一名青少年女性患晚期直肠癌伴发的遗传性错配修复缺陷综合征：病例报告及文献综述
Cureus. 2022 Apr 30;14(4):e24615. doi: 10.7759/cureus.24615. eCollection 2022 Apr.
4
B-cell acute lymphoblastic leukemia with high mutation burden presenting in a child with constitutional mismatch repair deficiency.伴有高突变负担的 B 细胞急性淋巴细胞白血病，发生于存在错配修复缺陷的儿童。
Blood Adv. 2019 Jun 25;3(12):1795-1798. doi: 10.1182/bloodadvances.2019000358.
Genes (Basel). 2014 Jun 27;5(3):497-507. doi: 10.3390/genes5030497.
4
Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium 'care for CMMRD' (C4CMMRD).先天性错配修复缺陷综合征的诊断标准：欧洲“关爱CMMRD”（C4CMMRD）联盟的建议
J Med Genet. 2014 Jun;51(6):355-65. doi: 10.1136/jmedgenet-2014-102284. Epub 2014 Apr 15.
5
Mismatch repair pathway: molecules, functions, and role in colorectal carcinogenesis.错配修复途径：分子、功能及其在结直肠癌发生中的作用
Eur J Cancer Prev. 2014 Jul;23(4):246-57. doi: 10.1097/CEJ.0000000000000019.
6
Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European Consortium "Care for CMMR-D" (C4CMMR-D).欧洲“关爱宪法性错配修复缺陷患者”联盟（C4CMMR-D）提出的宪法性错配修复缺陷个体监测指南。
J Med Genet. 2014 May;51(5):283-93. doi: 10.1136/jmedgenet-2013-102238. Epub 2014 Feb 20.
7
Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium.遗传和临床决定因素导致的错配修复缺陷综合征：来自错配修复缺陷综合征联盟的报告。
Eur J Cancer. 2014 Mar;50(5):987-96. doi: 10.1016/j.ejca.2013.12.005. Epub 2014 Jan 15.
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Constitutional mismatch repair deficiency and childhood leukemia/lymphoma--report on a novel biallelic MSH6 mutation.错配修复缺陷与儿童白血病/淋巴瘤——一种新型的 MSH6 双等位基因突变报告。
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Hum Genet. 2008 Sep;124(2):105-22. doi: 10.1007/s00439-008-0542-4. Epub 2008 Aug 18.
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JAMA. 2006 Sep 27;296(12):1479-87. doi: 10.1001/jama.296.12.1479.