一名努南综合征患者的急性淋巴细胞白血病原始细胞中，由于获得性单亲二体导致种系PTPN11突变的克隆性复制。 - Suppr

Clonal duplication of a germline PTPN11 mutation due to acquired uniparental disomy in acute lymphoblastic leukemia blasts from a patient with Noonan syndrome.

作者信息

Karow A, Steinemann D, Göhring G, Hasle H, Greiner J, Harila-Saari A, Flotho C, Zenker M, Schlegelberger B, Niemeyer C M, Kratz C P

出版信息

Leukemia. 2007 Jun;21(6):1303-5. doi: 10.1038/sj.leu.2404651. Epub 2007 Mar 15.

DOI:10.1038/sj.leu.2404651

PMID:17361219

Abstract

摘要

相似文献

Clonal duplication of a germline PTPN11 mutation due to acquired uniparental disomy in acute lymphoblastic leukemia blasts from a patient with Noonan syndrome.

Leukemia. 2007 Jun;21(6):1303-5. doi: 10.1038/sj.leu.2404651. Epub 2007 Mar 15.

Acute lymphoblastic leukaemia in Noonan syndrome.

Br J Haematol. 2006 May;133(4):448-50. doi: 10.1111/j.1365-2141.2006.06092.x.

PTPN11, RAS and FLT3 mutations in childhood acute lymphoblastic leukemia.

Leuk Res. 2006 Sep;30(9):1085-9. doi: 10.1016/j.leukres.2006.02.004. Epub 2006 Mar 14.

Pediatr Blood Cancer. 2007 Jan;48(1):101-4. doi: 10.1002/pbc.20527.

Acute myeloid leukemia in an adult Noonan syndrome patient with PTPN11 mutation.

Am J Hematol. 2005 Jun;79(2):171-2. doi: 10.1002/ajh.20326.

Acute lymphoblastic leukemia developing in a patient with Noonan syndrome harboring a PTPN11 germline mutation.

J Pediatr Hematol Oncol. 2014 Mar;36(2):e136-9. doi: 10.1097/MPH.0000000000000002.

Activating mutations of the noonan syndrome-associated SHP2/PTPN11 gene in human solid tumors and adult acute myelogenous leukemia.

Cancer Res. 2004 Dec 15;64(24):8816-20. doi: 10.1158/0008-5472.CAN-04-1923.

The spectrum of cardiac anomalies in Noonan syndrome as a result of mutations in the PTPN11 gene.

Pediatrics. 2007 Jun;119(6):e1325-31. doi: 10.1542/peds.2006-0211. Epub 2007 May 21.

Germline gain-of-function mutations in SOS1 cause Noonan syndrome.

Nat Genet. 2007 Jan;39(1):70-4. doi: 10.1038/ng1926. Epub 2006 Dec 3.

Mild variable Noonan syndrome in a family with a novel PTPN11 mutation.

Eur J Med Genet. 2007 Jan-Feb;50(1):43-7. doi: 10.1016/j.ejmg.2006.08.003. Epub 2006 Sep 14.

引用本文的文献

Congenital Chylothorax as the Initial Presentation of PTPN11-Associated Noonan Syndrome.

J Pediatr. 2017 Jun;185:248-248.e1. doi: 10.1016/j.jpeds.2017.02.042. Epub 2017 Mar 28.

Noonan syndrome - a new survey.

Arch Med Sci. 2017 Feb 1;13(1):215-222. doi: 10.5114/aoms.2017.64720. Epub 2016 Dec 19.

Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes.

Br J Cancer. 2015 Apr 14;112(8):1392-7. doi: 10.1038/bjc.2015.75. Epub 2015 Mar 5.

Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes.

Am J Med Genet C Semin Med Genet. 2011 May 15;157C(2):83-9. doi: 10.1002/ajmg.c.30300. Epub 2011 Apr 15.

Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation.

Eur J Hum Genet. 2011 Aug;19(8):870-4. doi: 10.1038/ejhg.2011.37. Epub 2011 Mar 16.

Association between acquired uniparental disomy and homozygous mutations and HER2/ER/PR status in breast cancer.

PLoS One. 2010 Nov 30;5(11):e15094. doi: 10.1371/journal.pone.0015094.

Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome.

Eur J Hum Genet. 2009 Apr;17(4):420-5. doi: 10.1038/ejhg.2008.188. Epub 2008 Oct 15.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验

Clonal duplication of a germline PTPN11 mutation due to acquired uniparental disomy in acute lymphoblastic leukemia blasts from a patient with Noonan syndrome.

作者信息

Karow A, Steinemann D, Göhring G, Hasle H, Greiner J, Harila-Saari A, Flotho C, Zenker M, Schlegelberger B, Niemeyer C M, Kratz C P

出版信息

Leukemia. 2007 Jun;21(6):1303-5. doi: 10.1038/sj.leu.2404651. Epub 2007 Mar 15.

DOI:10.1038/sj.leu.2404651

PMID:17361219

Abstract

摘要

相似文献

Clonal duplication of a germline PTPN11 mutation due to acquired uniparental disomy in acute lymphoblastic leukemia blasts from a patient with Noonan syndrome.

Leukemia. 2007 Jun;21(6):1303-5. doi: 10.1038/sj.leu.2404651. Epub 2007 Mar 15.

Acute lymphoblastic leukaemia in Noonan syndrome.

Br J Haematol. 2006 May;133(4):448-50. doi: 10.1111/j.1365-2141.2006.06092.x.

PTPN11, RAS and FLT3 mutations in childhood acute lymphoblastic leukemia.

Leuk Res. 2006 Sep;30(9):1085-9. doi: 10.1016/j.leukres.2006.02.004. Epub 2006 Mar 14.

Pediatr Blood Cancer. 2007 Jan;48(1):101-4. doi: 10.1002/pbc.20527.

Acute myeloid leukemia in an adult Noonan syndrome patient with PTPN11 mutation.

Am J Hematol. 2005 Jun;79(2):171-2. doi: 10.1002/ajh.20326.

Acute lymphoblastic leukemia developing in a patient with Noonan syndrome harboring a PTPN11 germline mutation.

J Pediatr Hematol Oncol. 2014 Mar;36(2):e136-9. doi: 10.1097/MPH.0000000000000002.

Activating mutations of the noonan syndrome-associated SHP2/PTPN11 gene in human solid tumors and adult acute myelogenous leukemia.

Cancer Res. 2004 Dec 15;64(24):8816-20. doi: 10.1158/0008-5472.CAN-04-1923.

The spectrum of cardiac anomalies in Noonan syndrome as a result of mutations in the PTPN11 gene.

Pediatrics. 2007 Jun;119(6):e1325-31. doi: 10.1542/peds.2006-0211. Epub 2007 May 21.

Germline gain-of-function mutations in SOS1 cause Noonan syndrome.

Nat Genet. 2007 Jan;39(1):70-4. doi: 10.1038/ng1926. Epub 2006 Dec 3.

Mild variable Noonan syndrome in a family with a novel PTPN11 mutation.

Eur J Med Genet. 2007 Jan-Feb;50(1):43-7. doi: 10.1016/j.ejmg.2006.08.003. Epub 2006 Sep 14.

引用本文的文献

Congenital Chylothorax as the Initial Presentation of PTPN11-Associated Noonan Syndrome.

J Pediatr. 2017 Jun;185:248-248.e1. doi: 10.1016/j.jpeds.2017.02.042. Epub 2017 Mar 28.

Noonan syndrome - a new survey.

Arch Med Sci. 2017 Feb 1;13(1):215-222. doi: 10.5114/aoms.2017.64720. Epub 2016 Dec 19.

Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes.

Br J Cancer. 2015 Apr 14;112(8):1392-7. doi: 10.1038/bjc.2015.75. Epub 2015 Mar 5.

Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes.

Am J Med Genet C Semin Med Genet. 2011 May 15;157C(2):83-9. doi: 10.1002/ajmg.c.30300. Epub 2011 Apr 15.

Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation.

Eur J Hum Genet. 2011 Aug;19(8):870-4. doi: 10.1038/ejhg.2011.37. Epub 2011 Mar 16.

Association between acquired uniparental disomy and homozygous mutations and HER2/ER/PR status in breast cancer.

PLoS One. 2010 Nov 30;5(11):e15094. doi: 10.1371/journal.pone.0015094.

Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome.

Eur J Hum Genet. 2009 Apr;17(4):420-5. doi: 10.1038/ejhg.2008.188. Epub 2008 Oct 15.

Clonal duplication of a germline PTPN11 mutation due to acquired uniparental disomy in acute lymphoblastic leukemia blasts from a patient with Noonan syndrome.

作者信息

出版信息

相似文献

引用本文的文献

文献AI研究员

用中文搜PubMed

文档翻译

Suppr 超能文献

Clonal duplication of a germline PTPN11 mutation due to acquired uniparental disomy in acute lymphoblastic leukemia blasts from a patient with Noonan syndrome.

作者信息

出版信息

相似文献

引用本文的文献