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Page 1
Infantile Myelofibrosis and Myeloproliferation with CDC42 Dysfunction.
Verboon JM, Mahmut D, Kim AR, Nakamura M, Abdulhay NJ, Nandakumar SK, Gupta N, Akie TE, Geddis AE, Manes B, Kapp ME, Hofmann I, Gabriel SB, Klein DE, Williams DA, Frangoul HA, Parkhurst SM, Crane GM, Cantor AB, Sankaran VG. Verboon JM, et al. Among authors: hofmann i. J Clin Immunol. 2020 May;40(4):554-566. doi: 10.1007/s10875-020-00778-7. Epub 2020 Apr 17. J Clin Immunol. 2020. PMID: 32303876 Free PMC article.
CTC1 Mutations in a patient with dyskeratosis congenita.
Keller RB, Gagne KE, Usmani GN, Asdourian GK, Williams DA, Hofmann I, Agarwal S. Keller RB, et al. Among authors: hofmann i. Pediatr Blood Cancer. 2012 Aug;59(2):311-4. doi: 10.1002/pbc.24193. Epub 2012 Apr 24. Pediatr Blood Cancer. 2012. PMID: 22532422 Free PMC article.
Congenital X-linked neutropenia with myelodysplasia and somatic tetraploidy due to a germline mutation in SEPT6.
Renella R, Gagne K, Beauchamp E, Fogel J, Perlov A, Sola M, Schlaeger T, Hofmann I, Shimamura A, Ebert BL, Schmitz-Abe K, Markianos K, Murphy K, Sun L, Rockowitz S, Sliz P, Campagna DR, Springer TA, Bahl C, Agarwal S, Fleming MD, Williams DA. Renella R, et al. Among authors: hofmann i. Am J Hematol. 2022 Jan 1;97(1):18-29. doi: 10.1002/ajh.26382. Epub 2021 Nov 3. Am J Hematol. 2022. PMID: 34677878 Free PMC article.
Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity.
Zhang MY, Keel SB, Walsh T, Lee MK, Gulsuner S, Watts AC, Pritchard CC, Salipante SJ, Jeng MR, Hofmann I, Williams DA, Fleming MD, Abkowitz JL, King MC, Shimamura A. Zhang MY, et al. Among authors: hofmann i. Haematologica. 2015 Jan;100(1):42-8. doi: 10.3324/haematol.2014.113456. Epub 2014 Sep 19. Haematologica. 2015. PMID: 25239263 Free PMC article.
Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy.
Zhang MY, Churpek JE, Keel SB, Walsh T, Lee MK, Loeb KR, Gulsuner S, Pritchard CC, Sanchez-Bonilla M, Delrow JJ, Basom RS, Forouhar M, Gyurkocza B, Schwartz BS, Neistadt B, Marquez R, Mariani CJ, Coats SA, Hofmann I, Lindsley RC, Williams DA, Abkowitz JL, Horwitz MS, King MC, Godley LA, Shimamura A. Zhang MY, et al. Among authors: hofmann i. Nat Genet. 2015 Feb;47(2):180-5. doi: 10.1038/ng.3177. Epub 2015 Jan 12. Nat Genet. 2015. PMID: 25581430 Free PMC article.
TGFβ signaling underlies hematopoietic dysfunction and bone marrow failure in Shwachman-Diamond Syndrome.
Joyce CE, Saadatpour A, Ruiz-Gutierrez M, Bolukbasi OV, Jiang L, Thomas DD, Young S, Hofmann I, Sieff CA, Myers KC, Whangbo J, Libermann TA, Nusbaum C, Yuan GC, Shimamura A, Novina CD. Joyce CE, et al. Among authors: hofmann i. J Clin Invest. 2019 Jun 18;129(9):3821-3826. doi: 10.1172/JCI125375. J Clin Invest. 2019. PMID: 31211692 Free PMC article.
Congenital macrothrombocytopenia with focal myelofibrosis due to mutations in human G6b-B is rescued in humanized mice.
Hofmann I, Geer MJ, Vögtle T, Crispin A, Campagna DR, Barr A, Calicchio ML, Heising S, van Geffen JP, Kuijpers MJE, Heemskerk JWM, Eble JA, Schmitz-Abe K, Obeng EA, Douglas M, Freson K, Pondarré C, Favier R, Jarvis GE, Markianos K, Turro E, Ouwehand WH, Mazharian A, Fleming MD, Senis YA. Hofmann I, et al. Blood. 2018 Sep 27;132(13):1399-1412. doi: 10.1182/blood-2017-08-802769. Epub 2018 Jun 13. Blood. 2018. PMID: 29898956 Free PMC article.
Myeloproliferative Neoplasms in Children.
Hofmann I. Hofmann I. J Hematop. 2015 Sep;8(3):143-157. doi: 10.1007/s12308-015-0256-1. Epub 2015 Aug 2. J Hematop. 2015. PMID: 26609329 Free PMC article.
205 results