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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1992 1
1993 1
1996 1
1997 1
1998 1
1999 1
2001 2
2002 3
2003 4
2004 7
2005 3
2007 1
2008 5
2009 2
2010 1
2011 5
2012 4
2013 5
2014 7
2015 4
2016 13
2017 11
2018 6
2019 4
2020 5
2021 6
2022 4
2023 6
2024 5

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101 results

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6 articles found by citation matching
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Page 1
Natural history study of patients with familial platelet disorder with associated myeloid malignancy.
Cunningham L, Merguerian M, Calvo KR, Davis J, Deuitch NT, Dulau-Florea A, Patel N, Yu K, Sacco K, Bhattacharya S, Passi M, Ozkaya N, De Leon S, Chong S, Craft K, Diemer J, Bresciani E, O'Brien K, Andrews EJ, Park N, Hathaway L, Cowen EW, Heller T, Ryan K, Barochia A, Nghiem K, Niemela J, Rosenzweig S, Young DJ, Frischmeyer-Guerrerio PA, Braylan R, Liu PP. Cunningham L, et al. Blood. 2023 Dec 21;142(25):2146-2158. doi: 10.1182/blood.2023019746. Blood. 2023. PMID: 37738626
Deleterious germ line RUNX1 variants cause the autosomal dominant familial platelet disorder with associated myeloid malignancy (FPDMM), characterized by thrombocytopenia, platelet dysfunction, and a predisposition to hematologic malignan …
Deleterious germ line RUNX1 variants cause the autosomal dominant familial platelet disorder with associated myeloid …
RUNX1 deficiency (familial platelet disorder with predisposition to myeloid leukemia, FPDMM).
Schlegelberger B, Heller PG. Schlegelberger B, et al. Semin Hematol. 2017 Apr;54(2):75-80. doi: 10.1053/j.seminhematol.2017.04.006. Epub 2017 Apr 13. Semin Hematol. 2017. PMID: 28637620 Review.
Familial platelet disorder with predisposition to myeloid leukemia (FPDMM) typically presents with (1) mild to moderate thrombocytopenia with normal-sized platelets; (2) functional platelets defects leading to prolonged bleeding; and (3) …
Familial platelet disorder with predisposition to myeloid leukemia (FPDMM) typically presents with …
Downregulation of TREM-like transcript-1 and collagen receptor alpha2 subunit, two novel RUNX1-targets, contributes to platelet dysfunction in familial platelet disorder with predisposition to acute myelogenous leukemia.
Glembotsky AC, Sliwa D, Bluteau D, Balayn N, Marin Oyarzún CP, Raimbault A, Bordas M, Droin N, Pirozhkova I, Washington V, Goette NP, Marta RF, Favier R, Raslova H, Heller PG. Glembotsky AC, et al. Haematologica. 2019 Jun;104(6):1244-1255. doi: 10.3324/haematol.2018.188904. Epub 2018 Dec 13. Haematologica. 2019. PMID: 30545930 Free PMC article.
Germline RUNX1 mutations lead to thrombocytopenia and platelet dysfunction in familial platelet disorder with predisposition to acute myelogenous leukemia (AML). ...In conclusion, we show that gene expression profiling of RU …
Germline RUNX1 mutations lead to thrombocytopenia and platelet dysfunction in familial platelet disorder with …
Inherited thrombocytopenia and platelet disorders with germline predisposition to myeloid neoplasia.
Galera P, Dulau-Florea A, Calvo KR. Galera P, et al. Int J Lab Hematol. 2019 May;41 Suppl 1:131-141. doi: 10.1111/ijlh.12999. Int J Lab Hematol. 2019. PMID: 31069978 Review.
Progression to myelodysplastic syndrome/ acute myeloid leukemia (MDS/AML) may be accompanied by progressive bi- or pancytopenia, multilineage dysplasia, increased blasts, cytogenetic abnormalities, acquisition of bi-allelic mutations in the underlying gene wi …
Progression to myelodysplastic syndrome/ acute myeloid leukemia (MDS/AML) may be accompanied by progressive bi- or panc …
Familial platelet disorder due to germline exonic deletions in RUNX1: a diagnostic challenge with distinct alterations of the transcript isoform equilibrium.
Engvall M, Karlsson Y, Kuchinskaya E, Jörnegren Å, Mathot L, Pandzic T, Palle J, Ljungström V, Cavelier L, Hellström Lindberg E, Cammenga J, Baliakas P. Engvall M, et al. Leuk Lymphoma. 2022 Oct;63(10):2311-2320. doi: 10.1080/10428194.2022.2067997. Epub 2022 May 9. Leuk Lymphoma. 2022. PMID: 35533071 Free article.
Germline pathogenic variants in RUNX1 are associated with familial platelet disorder with predisposition to myeloid malignancies (FPD/MM) with intragenic deletions in RUNX1 accounting for almost 7% of all reported variants. ...Expression analysi …
Germline pathogenic variants in RUNX1 are associated with familial platelet disorder with predisposition to m …
Inherited predisposition to acute myeloid leukemia.
Godley LA. Godley LA. Semin Hematol. 2014 Oct;51(4):306-21. doi: 10.1053/j.seminhematol.2014.08.001. Epub 2014 Aug 12. Semin Hematol. 2014. PMID: 25311743
Germline testing for familial predisposition to myeloid malignancies is becoming more common with the recognition of multiple familial syndromes. Currently, Clinical Laboratory Improvement Amendments-approved testing exists for the following: famili …
Germline testing for familial predisposition to myeloid malignancies is becoming more common with the recognition of mu …
Unrelated hematopoietic stem cell transplantation for familial platelet disorder/acute myeloid leukemia with germline RUNX1 mutations.
Toratani K, Watanabe M, Kanda J, Oka T, Hyuga M, Arai Y, Iwasaki M, Sakurada M, Nannya Y, Ogawa S, Yamada T, Takaori-Kondo A. Toratani K, et al. Int J Hematol. 2023 Sep;118(3):400-405. doi: 10.1007/s12185-023-03575-1. Epub 2023 Mar 10. Int J Hematol. 2023. PMID: 36897502
Germline mutations in RUNX1 result in rare autosomal-dominant familial platelet disorder with predisposition to acute myeloid leukemia (FPD/AML). As genetic analysis is becoming increasingly prevalent, the diagnosis rate of FPD/AML …
Germline mutations in RUNX1 result in rare autosomal-dominant familial platelet disorder with predisposition to …
Shwachman-Diamond Syndrome.
Nelson A, Myers K. Nelson A, et al. 2008 Jul 17 [updated 2024 Sep 19]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2008 Jul 17 [updated 2024 Sep 19]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301722 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: Shwachman-Diamond syndrome (SDS) is characterized by exocrine pancreatic dysfunction with malabsorption, malnutrition, and growth failure; hematologic abnormalities with single- or multilineage cytopenias and susceptibility to myelodysplastic synd …
CLINICAL CHARACTERISTICS: Shwachman-Diamond syndrome (SDS) is characterized by exocrine pancreatic dysfunction with malabsorption, malnutrit …
101 results