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Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism.
Schänzer A, Achleitner MT, Trümbach D, Hubert L, Munnich A, Ahlemeyer B, AlAbdulrahim MM, Greif PA, Vosberg S, Hummer B, Feichtinger RG, Mayr JA, Wortmann SB, Aichner H, Rudnik-Schöneborn S, Ruiz A, Gabau E, Sánchez JP, Ellard S, Homfray T, Stals KL, Wurst W, Neubauer BA, Acker T, Bohlander SK, Asensio C, Besmond C, Alkuraya FS, AlSayed MD, Hahn A, Weber A. Schänzer A, et al. Among authors: bohlander sk. Ann Neurol. 2021 Jul;90(1):143-158. doi: 10.1002/ana.26127. Epub 2021 Jun 5. Ann Neurol. 2021. PMID: 33999436 Free PMC article.
CBL exon 8/9 mutants activate the FLT3 pathway and cluster in core binding factor/11q deletion acute myeloid leukemia/myelodysplastic syndrome subtypes.
Reindl C, Quentmeier H, Petropoulos K, Greif PA, Benthaus T, Argiropoulos B, Mellert G, Vempati S, Duyster J, Buske C, Bohlander SK, Humphries KR, Hiddemann W, Spiekermann K. Reindl C, et al. Among authors: bohlander sk. Clin Cancer Res. 2009 Apr 1;15(7):2238-47. doi: 10.1158/1078-0432.CCR-08-1325. Epub 2009 Mar 10. Clin Cancer Res. 2009. PMID: 19276253
The CALM and CALM/AF10 interactor CATS is a marker for proliferation.
Archangelo LF, Greif PA, Hölzel M, Harasim T, Kremmer E, Przemeck GK, Eick D, Deshpande AJ, Buske C, de Angelis MH, Saad ST, Bohlander SK. Archangelo LF, et al. Among authors: bohlander sk. Mol Oncol. 2008 Dec;2(4):356-67. doi: 10.1016/j.molonc.2008.08.001. Epub 2008 Sep 4. Mol Oncol. 2008. PMID: 19383357 Free PMC article.
GATA2 zinc finger 1 mutations associated with biallelic CEBPA mutations define a unique genetic entity of acute myeloid leukemia.
Greif PA, Dufour A, Konstandin NP, Ksienzyk B, Zellmeier E, Tizazu B, Sturm J, Benthaus T, Herold T, Yaghmaie M, Dörge P, Hopfner KP, Hauser A, Graf A, Krebs S, Blum H, Kakadia PM, Schneider S, Hoster E, Schneider F, Stanulla M, Braess J, Sauerland MC, Berdel WE, Büchner T, Woermann BJ, Hiddemann W, Spiekermann K, Bohlander SK. Greif PA, et al. Among authors: bohlander sk. Blood. 2012 Jul 12;120(2):395-403. doi: 10.1182/blood-2012-01-403220. Epub 2012 May 30. Blood. 2012. PMID: 22649106 Free article. Clinical Trial.
RUNX1 mutations in cytogenetically normal acute myeloid leukemia are associated with a poor prognosis and up-regulation of lymphoid genes.
Greif PA, Konstandin NP, Metzeler KH, Herold T, Pasalic Z, Ksienzyk B, Dufour A, Schneider F, Schneider S, Kakadia PM, Braess J, Sauerland MC, Berdel WE, Büchner T, Woermann BJ, Hiddemann W, Spiekermann K, Bohlander SK. Greif PA, et al. Among authors: bohlander sk. Haematologica. 2012 Dec;97(12):1909-15. doi: 10.3324/haematol.2012.064667. Epub 2012 Jun 11. Haematologica. 2012. PMID: 22689681 Free PMC article.
193 results