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Items: 15


De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive.

Tokita MJ, Braxton AA, Shao Y, Lewis AM, Vincent M, Küry S, Besnard T, Isidor B, Latypova X, Bézieau S, Liu P, Motter CS, Melver CW, Robin NH, Infante EM, McGuire M, El-Gharbawy A, Littlejohn RO, McLean SD, Bi W, Bacino CA, Lalani SR, Scott DA, Eng CM, Yang Y, Schaaf CP, Walkiewicz MA.

Am J Hum Genet. 2016 Sep 1;99(3):720-727. doi: 10.1016/j.ajhg.2016.06.035. Epub 2016 Aug 18.


Intronic cleavage and polyadenylation regulates gene expression during DNA damage response through U1 snRNA.

Devany E, Park JY, Murphy MR, Zakusilo G, Baquero J, Zhang X, Hoque M, Tian B, Kleiman FE.

Cell Discov. 2016 Jun 14;2:16013. doi: 10.1038/celldisc.2016.13. eCollection 2016.


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.


Proximal 21q deletion as a result of a de novo unbalanced t(12;21) translocation in a patient with dysmorphic features, hepatomegaly, thick myocardium and delayed psychomotor development.

Jespersgaard C, Damgaard IN, Cornelius N, Bache I, Knabe N, Miranda MJ, Tümer Z.

Mol Cytogenet. 2016 Feb 4;9:11. doi: 10.1186/s13039-016-0220-5. eCollection 2016.


Genetic basis of myeloid transformation in familial platelet disorder/acute myeloid leukemia patients with haploinsufficient RUNX1 allele.

Sakurai M, Kasahara H, Yoshida K, Yoshimi A, Kunimoto H, Watanabe N, Shiraishi Y, Chiba K, Tanaka H, Harada Y, Harada H, Kawakita T, Kurokawa M, Miyano S, Takahashi S, Ogawa S, Okamoto S, Nakajima H.

Blood Cancer J. 2016 Feb 5;6:e392. doi: 10.1038/bcj.2015.81. No abstract available.


Clinical utility gene card for: Familial platelet disorder with associated myeloid malignancies.

Ripperger T, Tawana K, Kratz C, Schlegelberger B, Fitzgibbon J, Steinemann D.

Eur J Hum Genet. 2016 Aug;24(8). doi: 10.1038/ejhg.2015.278. Epub 2016 Jan 27. No abstract available.


Deletion of the App-Runx1 region in mice models human partial monosomy 21.

Arbogast T, Raveau M, Chevalier C, Nalesso V, Dembele D, Jacobs H, Wendling O, Roux M, Duchon A, Herault Y.

Dis Model Mech. 2015 Jun;8(6):623-34. doi: 10.1242/dmm.017814. Epub 2015 Apr 16.


Hereditary leukemia due to rare RUNX1c splice variant (L472X) presents with eczematous phenotype.

Sorrell A, Espenschied C, Wang W, Weitzel J, Chu S, Parker P, Saldivar S, Bhatia R.

Int J Clin Med. 2012 Dec 1;3(7). doi: 10.4236/ijcm.2012.37110.


Biological and clinical features of trisomy 21 in adult patients with acute myeloid leukemia.

Strati P, Daver N, Ravandi F, Pemmaraju N, Pierce S, Garcia-Manero G, Nazha A, Kadia T, Jabbour E, Borthakur G, Faderl S, Quintas-Cardama A, Kantarjian H, Cortes J.

Clin Lymphoma Myeloma Leuk. 2013 Sep;13 Suppl 2:S276-81. doi: 10.1016/j.clml.2013.05.020. Epub 2013 Aug 19.


Recognizing familial myeloid leukemia in adults.

Nickels EM, Soodalter J, Churpek JE, Godley LA.

Ther Adv Hematol. 2013 Aug;4(4):254-69. doi: 10.1177/2040620713487399.


Application of microarray-based comparative genomic hybridization in prenatal and postnatal settings: three case reports.

Liu J, Bernier F, Lauzon J, Lowry RB, Chernos J.

Genet Res Int. 2011;2011:976398. doi: 10.4061/2011/976398. Epub 2011 Aug 7.


Managing individuals with propensity to myeloid malignancies due to germline RUNX1 deficiency.

Ripperger T, Tauscher M, Haase D, Griesinger F, Schlegelberger B, Steinemann D.

Haematologica. 2011 Dec;96(12):1892-4. doi: 10.3324/haematol.2011.053710. Epub 2011 Aug 31. No abstract available.


Familial myelodysplastic syndromes: a review of the literature.

Liew E, Owen C.

Haematologica. 2011 Oct;96(10):1536-42. doi: 10.3324/haematol.2011.043422. Epub 2011 May 23. Review.


Distinctive Phenotypic Abnormalities Associated with Submicroscopic 21q22 Deletion Including DYRK1A.

Oegema R, de Klein A, Verkerk AJ, Schot R, Dumee B, Douben H, Eussen B, Dubbel L, Poddighe PJ, van der Laar I, Dobyns WB, van der Spek PJ, Lequin MH, de Coo IF, de Wit MC, Wessels MW, Mancini GM.

Mol Syndromol. 2010 Sep;1(3):113-120. Epub 2010 Sep 14.


Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results.

Kang SH, Shaw C, Ou Z, Eng PA, Cooper ML, Pursley AN, Sahoo T, Bacino CA, Chinault AC, Stankiewicz P, Patel A, Lupski JR, Cheung SW.

Am J Med Genet A. 2010 May;152A(5):1111-26. doi: 10.1002/ajmg.a.33278.

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