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Syndromic thrombocytopenia and predisposition to acute myelogenous leukemia caused by constitutional microdeletions on chromosome 21q.

Shinawi M, Erez A, Shardy DL, Lee B, Naeem R, Weissenberger G, Chinault AC, Cheung SW, Plon SE.

Blood. 2008 Aug 15;112(4):1042-7. doi: 10.1182/blood-2008-01-135970.


Syndromic mental retardation with thrombocytopenia due to 21q22.11q22.12 deletion: Report of three patients.

Katzaki E, Morin G, Pollazzon M, Papa FT, Buoni S, Hayek J, Andrieux J, Lecerf L, Popovici C, Receveur A, Mathieu-Dramard M, Renieri A, Mari F, Philip N.

Am J Med Genet A. 2010 Jul;152A(7):1711-7. doi: 10.1002/ajmg.a.33478.


Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia.

Song WJ, Sullivan MG, Legare RD, Hutchings S, Tan X, Kufrin D, Ratajczak J, Resende IC, Haworth C, Hock R, Loh M, Felix C, Roy DC, Busque L, Kurnit D, Willman C, Gewirtz AM, Speck NA, Bushweller JH, Li FP, Gardiner K, Poncz M, Maris JM, Gilliland DG.

Nat Genet. 1999 Oct;23(2):166-75.


Molecular pathways mediating MDS/AML with focus on AML1/RUNX1 point mutations.

Harada Y, Harada H.

J Cell Physiol. 2009 Jul;220(1):16-20. doi: 10.1002/jcp.21769. Review.


Constitutional RUNX1 deletion presenting as non-syndromic thrombocytopenia with myelodysplasia: 21q22 ITSN1 as a candidate gene in mental retardation.

van der Crabben S, van Binsbergen E, Ausems M, Poot M, Bierings M, Buijs A.

Leuk Res. 2010 Jan;34(1):e8-12. doi: 10.1016/j.leukres.2009.06.030. No abstract available.


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.

Michaud J, Wu F, Osato M, Cottles GM, Yanagida M, Asou N, Shigesada K, Ito Y, Benson KF, Raskind WH, Rossier C, Antonarakis SE, Israels S, McNicol A, Weiss H, Horwitz M, Scott HS.

Blood. 2002 Feb 15;99(4):1364-72.


Level of RUNX1 activity is critical for leukemic predisposition but not for thrombocytopenia.

Antony-Debré I, Manchev VT, Balayn N, Bluteau D, Tomowiak C, Legrand C, Langlois T, Bawa O, Tosca L, Tachdjian G, Leheup B, Debili N, Plo I, Mills JA, French DL, Weiss MJ, Solary E, Favier R, Vainchenker W, Raslova H.

Blood. 2015 Feb 5;125(6):930-40. doi: 10.1182/blood-2014-06-585513.


Fanconi anemia-like presentation in an infant with constitutional deletion of 21q including the RUNX1 gene.

Click ES, Cox B, Olson SB, Grompe M, Akkari Y, Moreau LA, Shimamura A, Sternen DL, Liu YJ, Leppig KA, Matthews DC, Parisi MA.

Am J Med Genet A. 2011 Jul;155A(7):1673-9. doi: 10.1002/ajmg.a.34024.


MYH10 protein expression in platelets as a biomarker of RUNX1 and FLI1 alterations.

Antony-Debré I, Bluteau D, Itzykson R, Baccini V, Renneville A, Boehlen F, Morabito M, Droin N, Deswarte C, Chang Y, Leverger G, Solary E, Vainchenker W, Favier R, Raslova H.

Blood. 2012 Sep 27;120(13):2719-22.


Haematological spectrum and genotype-phenotype correlations in nine unrelated families with RUNX1 mutations from the French network on inherited platelet disorders.

Latger-Cannard V, Philippe C, Bouquet A, Baccini V, Alessi MC, Ankri A, Bauters A, Bayart S, Cornillet-Lefebvre P, Daliphard S, Mozziconacci MJ, Renneville A, Ballerini P, Leverger G, Sobol H, Jonveaux P, Preudhomme C, Nurden P, Lecompte T, Favier R.

Orphanet J Rare Dis. 2016 Apr 26;11:49. doi: 10.1186/s13023-016-0432-0.


Gene expression profiling of minimally differentiated acute myeloid leukemia: M0 is a distinct entity subdivided by RUNX1 mutation status.

Silva FP, Swagemakers SM, Erpelinck-Verschueren C, Wouters BJ, Delwel R, Vrieling H, van der Spek P, Valk PJ, Giphart-Gassler M.

Blood. 2009 Oct 1;114(14):3001-7. doi: 10.1182/blood-2009-03-211334.


Array comparative genome hybridization analysis of acute lymphoblastic leukaemia and acute megakaryoblastic leukaemia in patients with Down syndrome.

Lo KC, Chalker J, Strehl S, Neat M, Smith O, Dastugue N, Kearney L, Izraeli S, Kempski H, Cowell JK.

Br J Haematol. 2008 Sep;142(6):934-45. doi: 10.1111/j.1365-2141.2008.07280.x.


Involvement of der(12)t(12;21)(p13;q22) and as well as additional rearrangements of chromosome 12 homolog in ETV6/RUNX1-positive acute lymphoblastic leukemia.

Stanchescu R, Betts DR, Rechavi G, Amariglio N, Trakhtenbrot L.

Cancer Genet Cytogenet. 2009 Apr 1;190(1):26-32. doi: 10.1016/j.cancergencyto.2008.12.003.


RUNX1 DNA-binding mutants, associated with minimally differentiated acute myelogenous leukemia, disrupt myeloid differentiation.

Cammenga J, Niebuhr B, Horn S, Bergholz U, Putz G, Buchholz F, Löhler J, Stocking C.

Cancer Res. 2007 Jan 15;67(2):537-45.


AML1 deletion in adult mice causes splenomegaly and lymphomas.

Putz G, Rosner A, Nuesslein I, Schmitz N, Buchholz F.

Oncogene. 2006 Feb 9;25(6):929-39.


Familial mutations of the transcription factor RUNX1 (AML1, CBFA2) predispose to acute myeloid leukemia.

Ganly P, Walker LC, Morris CM.

Leuk Lymphoma. 2004 Jan;45(1):1-10. Review.


Complex t(2;21;8)(p12;q22;q22): a variant t(8;21) in a patient with acute myeloid leukemia (AML-M2).

Wang H, Yang W, Shao H, Zhang J, Qi L, Liao A, Li Y, Liu Z.

Cancer Genet Cytogenet. 2009 Jan 15;188(2):95-8. doi: 10.1016/j.cancergencyto.2008.08.007. Retraction in: Cancer Genet Cytogenet. 2009 Jul;192(1):54.


Gain of chromosome 21 or amplification of chromosome arm 21q is one mechanism for increased ERG expression in acute myeloid leukemia.

Weber S, Haferlach C, Jeromin S, Nadarajah N, Dicker F, Noël L, Zenger M, Alpermann T, Kern W, Haferlach T, Schnittger S.

Genes Chromosomes Cancer. 2016 Feb;55(2):148-57. doi: 10.1002/gcc.22321.


Acute myeloid leukemia (M2) with a cryptic RUNX1/RUNX1T1 t(1;21;8)(p36;q22;q22) variant.

Tirado CA, Chen W, Valdez FJ, Henderson S, Doolittle J, Garcia R, Patel S, Holdridge S, Chastain C, Collins RH.

Cancer Genet Cytogenet. 2009 Aug;193(1):67-9. doi: 10.1016/j.cancergencyto.2009.03.004. No abstract available.


A neonate with congenital amegakaryocytic thrombocytopenia associated with a chromosomal microdeletion at 21q22.11 including the gene RUNX1.

Christensen RD, Wiedmeier SE, Yaish HM.

J Perinatol. 2013 Mar;33(3):242-4. doi: 10.1038/jp.2012.53.

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