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https://dora.health.qld.gov.au/qldresearchjspui/handle/1/3839| Title: | A novel germline SAMD9L mutation in a family with ataxia-pancytopenia syndrome and pediatric acute lymphoblastic leukemia | Authors: | Phillips, Kerry Guandalini, Michael Scott, Hamish S. Hahn, Christopher N. Poplawski, Nicola Cheah, Jesse J. C. Brown, Anna L. Schreiber, Andreas W. Feng, Jinghua Babic, Milena Moore, Sarah Wilson, Peter Young, Chun-Chun Fine, Miriam |
Issue Date: | 2019 | Source: | 104, (7), 2019, p. e318-e321 | Pages: | e318-e321 | Journal: | Haematologica | Abstract: | Blood. 2015 Nov 26;126(22):2484-90. (PMID: 26492932); Nat Genet. 2016 Jul;48(7):792-7. (PMID: 27182967); Leukemia. 2018 May;32(5):1106-1115. (PMID: 29535429); PLoS Genet. 2015 Jun 23;11(6):e1005262. (PMID: 26102509); Blood. 2017 Apr 20;129(16):2266-2279. (PMID: 28202457); Semin Hematol. 2017 Apr;54(2):60-68. (PMID: 28637618); JCI Insight. 2018 Jul 26;3(14):. (PMID: 30046003); Blood. 2016 May 19;127(20):2391-405. (PMID: 27069254); Blood. 2018 Feb 15;131(7):717-732. (PMID: 29146883); Haematologica. 2018 Mar;103(3):427-437. (PMID: 29217778); Blood Cells Mol Dis. 2007 Jul-Aug;39(1):107-14. (PMID: 17434765); Am J Hum Genet. 2016 Jun 2;98(6):1146-1158. (PMID: 27259050); Nature. 2017 May 25;545(7655):432-438. (PMID: 28514439); Blood. 2017 Jul 27;130(4):424-432. (PMID: 28600339). Linking ISSN: 03906078. Subset: MEDLINE; Date of Electronic Publication: 2019 Mar 28. Current Imprints: Publication: 1999- : Pavia, Italy : Ferrata Storti Foundation; Original Imprints: Publication: Pavia [etc.] | DOI: | 10.3324/haematol.2018.207316 | Resources: | https://search.ebscohost.com/login.aspx?direct=true&AuthType=ip,athens&db=mdc&AN=30923096&site=ehost-live | Keywords: | Male;Precursor Cell Lymphoblastic Leukemia-Lymphoma/complications;Precursor Cell Lymphoblastic Leukemia-Lymphoma/pathology;Prognosis;Cerebellar Ataxia/*geneticsPancytopenia/*genetics;Precursor Cell Lymphoblastic Leukemia-Lymphoma/*genetics;Tumor Suppressor Proteins/*genetics;Adolescent;Adult;Cerebellar Ataxia/complications;Cerebellar Ataxia/pathology;Child, Preschool;Chromosome Aberrations;Female;Germ-Line Mutation;Humans;Infant;Pancytopenia/complications;Pancytopenia/pathology;Pedigree;Syndrome | Type: | Article |
| Appears in Sites: | Children's Health Queensland Publications |
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