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Application of whole-exome sequencing to direct the specific functional testing and diagnosis of rare inherited bleeding disorders in patients from the Öresund Region, Scandinavia.
Leinøe E, Zetterberg E, Kinalis S, Østrup O, Kampmann P, Norström E, Andersson N, Klintman J, Qvortrup K, Nielsen FC, Rossing M. Leinøe E, et al. Br J Haematol. 2017 Oct;179(2):308-322. doi: 10.1111/bjh.14863. Epub 2017 Jul 27. Br J Haematol. 2017. PMID: 28748566 Free PMC article. Clinical Trial.
A novel variant Glanzmann thrombasthenia due to co-inheritance of a loss- and a gain-of-function mutation of ITGB3: evidence of a dominant effect of gain-of-function mutations.
Bury L, Zetterberg E, Leinøe EB, Falcinelli E, Marturano A, Manni G, Nurden AT, Gresele P. Bury L, et al. Among authors: leinoe eb. Haematologica. 2018 Jun;103(6):e259-e263. doi: 10.3324/haematol.2017.180927. Epub 2018 Feb 8. Haematologica. 2018. PMID: 29439184 Free PMC article. No abstract available.
Genetic screening of children with suspected inherited bleeding disorders.
Andersson NG, Rossing M, Fager Ferrari M, Gabrielaite M, Leinøe E, Ljung R, Mårtensson A, Norström E, Zetterberg E. Andersson NG, et al. Among authors: leinoe e. Haemophilia. 2020 Mar;26(2):314-324. doi: 10.1111/hae.13948. Epub 2020 Feb 26. Haemophilia. 2020. PMID: 32100410
Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome.
Sims MC, Mayer L, Collins JH, Bariana TK, Megy K, Lavenu-Bombled C, Seyres D, Kollipara L, Burden FS, Greene D, Lee D, Rodriguez-Romera A, Alessi MC, Astle WJ, Bahou WF, Bury L, Chalmers E, Da Silva R, De Candia E, Deevi SVV, Farrow S, Gomez K, Grassi L, Greinacher A, Gresele P, Hart D, Hurtaud MF, Kelly AM, Kerr R, Le Quellec S, Leblanc T, Leinøe EB, Mapeta R, McKinney H, Michelson AD, Morais S, Nugent D, Papadia S, Park SJ, Pasi J, Podda GM, Poon MC, Reed R, Sekhar M, Shalev H, Sivapalaratnam S, Steinberg-Shemer O, Stephens JC, Tait RC, Turro E, Wu JKM, Zieger B; NIHR BioResource; Kuijpers TW, Whetton AD, Sickmann A, Freson K, Downes K, Erber WN, Frontini M, Nurden P, Ouwehand WH, Favier R, Guerrero JA. Sims MC, et al. Among authors: leinoe eb. Blood. 2020 Oct 22;136(17):1956-1967. doi: 10.1182/blood.2019004776. Blood. 2020. PMID: 32693407 Free PMC article.
34 results