{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T17:48:55Z","timestamp":1791136135837,"version":"4.1.0"},"reference-count":18,"publisher":"Springer Science and Business Media LLC","issue":"8","license":[{"start":{"date-parts":[[2008,5,14]],"date-time":"2008-05-14T00:00:00Z","timestamp":1210723200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2008,8]]},"DOI":"10.1038\/ejhg.2008.89","type":"journal-article","created":{"date-parts":[[2008,5,14]],"date-time":"2008-05-14T10:39:27Z","timestamp":1210761567000},"page":"1014-1018","source":"Crossref","is-referenced-by-count":87,"title":["Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions"],"prefix":"10.1038","volume":"16","author":[{"given":"Myl\u00e8ne","family":"B\u00e9ri-Dexheimer","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V\u00e9ronique","family":"Latger-Cannard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christophe","family":"Philippe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9line","family":"Bonnet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascal","family":"Chambon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virginie","family":"Roth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Jos\u00e9","family":"Gr\u00e9goire","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre","family":"Bordigoni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Lecompte","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Leheup","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe","family":"Jonveaux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2008,5,14]]},"reference":[{"key":"BFejhg200889_CR1","doi-asserted-by":"crossref","first-page":"5218","DOI":"10.1182\/blood.V87.12.5218.bloodjournal87125218","volume":"87","author":"CY Ho","year":"1996","unstructured":"Ho CY, Otterud B, Legare RD et al: Linkage of a familial platelet disorder with a propensity to develop myeloid malignancies to human chromosome 21q22.1\u201322.2. Blood 1996; 87: 5218\u20135224.","journal-title":"Blood"},{"key":"BFejhg200889_CR2","doi-asserted-by":"publisher","first-page":"166","DOI":"10.1038\/13793","volume":"23","author":"WJ Song","year":"1999","unstructured":"Song WJ, Sullivan MG, Legare RD et al: Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. Nat Genet 1999; 23: 166\u2013175.","journal-title":"Nat Genet"},{"key":"BFejhg200889_CR3","doi-asserted-by":"publisher","first-page":"2856","DOI":"10.1182\/blood.V98.9.2856","volume":"98","author":"A Buijs","year":"2001","unstructured":"Buijs A, Poddighe P, van Wijk R et al: A novel CBFA2 single-nucleotide mutation in familial platelet disorder with propensity to develop myeloid malignancies. Blood 2001; 98: 2856\u20132858.","journal-title":"Blood"},{"key":"BFejhg200889_CR4","doi-asserted-by":"publisher","first-page":"1364","DOI":"10.1182\/blood.V99.4.1364","volume":"99","author":"J Michaud","year":"2002","unstructured":"Michaud J, Wu F, Osato M et al: In vitro analyses of known and novel RUNX1\/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis. Blood 2002; 99: 1364\u20131372.","journal-title":"Blood"},{"key":"BFejhg200889_CR5","doi-asserted-by":"publisher","first-page":"878","DOI":"10.1046\/j.1365-2141.2002.03512.x","volume":"117","author":"LC Walker","year":"2002","unstructured":"Walker LC, Stevens J, Campbell H et al: A novel inherited mutation of the transcription factor RUNX1 causes thrombocytopenia and may predispose to acute myeloid leukaemia. Br J Haematol 2002; 117: 878\u2013881.","journal-title":"Br J Haematol"},{"key":"BFejhg200889_CR6","doi-asserted-by":"publisher","first-page":"948","DOI":"10.1182\/blood-2003-07-2299","volume":"103","author":"L Sun","year":"2004","unstructured":"Sun L, Mao G, Rao AK : Association of CBFA2 mutation with decreased platelet PKC-theta and impaired receptor-mediated activation of GPIIb-IIIa and pleckstrin phosphorylation: proteins regulated by CBFA2 play a role in GPIIb-IIIa activation. Blood 2004; 103: 948\u2013954.","journal-title":"Blood"},{"key":"BFejhg200889_CR7","doi-asserted-by":"publisher","first-page":"4664","DOI":"10.1182\/blood-2005-01-0050","volume":"105","author":"PG Heller","year":"2005","unstructured":"Heller PG, Glembotsky AC, Gandhi MJ et al: Low Mpl receptor expression in a pedigree with familial platelet disorder with predisposition to acute myelogenous leukemia and a novel AML1 mutation. Blood 2005; 105: 4664\u20134670.","journal-title":"Blood"},{"key":"BFejhg200889_CR8","doi-asserted-by":"publisher","first-page":"117","DOI":"10.1111\/j.1365-2141.1995.tb08901.x","volume":"89","author":"N Gordon","year":"1995","unstructured":"Gordon N, Thom J, Cole C, Baker R : Rapid detection of hereditary and acquired platelet storage pool deficiency by flow cytometry. Br J Haematol 1995; 89: 117\u2013123.","journal-title":"Br J Haematol"},{"key":"BFejhg200889_CR9","doi-asserted-by":"publisher","first-page":"380","DOI":"10.1111\/j.1365-2141.1995.tb03315.x","volume":"89","author":"J Wall","year":"1995","unstructured":"Wall J, Buijs-Wilts M, Arnold J et al: A flow cytometry assay using mepacrine for study of uptake and release of platelet dense granule contents. Br J Haematol 1995; 89: 380\u2013385.","journal-title":"Br J Haematol"},{"key":"BFejhg200889_CR10","doi-asserted-by":"publisher","first-page":"89","DOI":"10.1038\/nrm1310","volume":"5","author":"LE Maquat","year":"2004","unstructured":"Maquat LE : Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics. Nat Rev Mol Cell Biol 2004; 5: 89\u201399.","journal-title":"Nat Rev Mol Cell Biol"},{"key":"BFejhg200889_CR11","doi-asserted-by":"publisher","first-page":"465","DOI":"10.1007\/s00401-006-0057-9","volume":"111","author":"A Korshunov","year":"2006","unstructured":"Korshunov A, Sycheva R, Golanov A : Genetically distinct and clinically relevant subtypes of glioblastoma defined by array-based comparative genomic hybridization. Acta Neuropathol 2006; 111: 465\u2013474.","journal-title":"Acta Neuropathol"},{"key":"BFejhg200889_CR12","first-page":"62","volume":"57","author":"Z Chettouh","year":"1995","unstructured":"Chettouh Z, Croquette MF, Delobel B et al: Molecular mapping of 21 features associated with partial monosomy 21: involvement of the APP-SOD1 region. Am J Hum Genet 1995; 57: 62\u201371.","journal-title":"Am J Hum Genet"},{"key":"BFejhg200889_CR13","doi-asserted-by":"publisher","first-page":"161","DOI":"10.1002\/ajmg.1320590209","volume":"59","author":"DS Theodoropoulos","year":"1995","unstructured":"Theodoropoulos DS, Cowan JM, Elias ER, Cole C : Physical findings in 21q22 deletion suggest critical region for 21q- phenotype in q22. Am J Med Genet 1995; 59: 161\u2013163.","journal-title":"Am J Med Genet"},{"key":"BFejhg200889_CR14","doi-asserted-by":"publisher","first-page":"629","DOI":"10.1136\/jmg.2007.050914","volume":"44","author":"J Hoyer","year":"2007","unstructured":"Hoyer J, Dreweke A, Becker C et al: Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays. J Med Genet 2007; 44: 629\u2013636.","journal-title":"J Med Genet"},{"key":"BFejhg200889_CR15","doi-asserted-by":"publisher","first-page":"546","DOI":"10.1073\/pnas.0307813100","volume":"101","author":"SY Lee","year":"2004","unstructured":"Lee SY, Wenk MR, Kim Y et al: Regulation of synaptojanin 1 by cyclin-dependent kinase 5 at synapses. Proc Natl Acad Sci USA 2004; 101: 546\u2013551.","journal-title":"Proc Natl Acad Sci USA"},{"key":"BFejhg200889_CR16","doi-asserted-by":"publisher","first-page":"379","DOI":"10.1523\/JNEUROSCI.4683-06.2007","volume":"27","author":"E Evergren","year":"2007","unstructured":"Evergren E, Gad H, Walther K et al: Intersectin is a negative regulator of dynamin recruitment to the synaptic endocytic zone in the central synapse. J Neurosci 2007; 27: 379\u2013390.","journal-title":"J Neurosci"},{"key":"BFejhg200889_CR17","doi-asserted-by":"publisher","first-page":"13161","DOI":"10.1523\/JNEUROSCI.3974-07.2007","volume":"28","author":"CA Hoeffer","year":"2007","unstructured":"Hoeffer CA, Dey A, Sachan N et al: The Down syndrome critical region protein RCAN1 regulates long-term potentiation and memory via inhibition of phosphatase signaling. J Neurosci 2007; 28: 13161\u201313172.","journal-title":"J Neurosci"},{"key":"BFejhg200889_CR18","doi-asserted-by":"publisher","first-page":"47","DOI":"10.1016\/S0169-328X(03)00283-3","volume":"117","author":"N Griffon","year":"2003","unstructured":"Griffon N, Jeanneteau F, Prieur F et al: CLIC6 a member of the intracellular chloride channel family, interacts with dopamine D(2)-like receptors. Brain Res Mol Brain Res 2003; 117: 47\u201357.","journal-title":"Brain Res Mol Brain Res"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ejhg200889.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg200889","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg200889.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T16:57:06Z","timestamp":1684429026000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ejhg200889"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,5,14]]},"references-count":18,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2008,8]]}},"alternative-id":["BFejhg200889"],"URL":"https:\/\/doi.org\/10.1038\/ejhg.2008.89","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,5,14]]}}}