Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Ebru Tugrul Saribeyoglu"'
Autor:
Yöntem Yaman, Yeşim Oymak, Canan Vergin, Ebru Tugrul Saribeyoglu, Fahri Yüce Ayhan, Sultan Aydin Köker, Ferah Genel, Can Acipayam
Publikováno v:
Central European Journal of Immunology, Vol 44, Iss 2, Pp 206-209 (2019)
Central-European Journal of Immunology
Central-European Journal of Immunology
Leukocyte adhesion deficiency type II (LAD II) is a rare, autosomal, recessive inherited immunodeficiency disease that induces frequent and recurrent infections, persistent leukocytosis, severe mental and growth retardation, and impaired wound healin
Autor:
Brigitte Schlegelberger, Melanie Boerries, Ulf Tedgård, Brigitte Strahm, Gerhard Ehninger, Miriam Erlacher, John C. Achermann, Matthias Voss, Hauke Busch, Jochen Hochrein, Irith Baumann, Victor B Pastor, Lennart Nilsson, Marena R. Niewisch, Yenan T. Bryceson, Dirk Lebrecht, Jessica Boklan, Georg C. Schwabe, Ebru Tugrul Saribeyoglu, Charlotte M. Niemeyer, Henrik Hasle, Sushree Sangita Sahoo, Akiko Shimamura, Marcin W. Wlodarski
Publikováno v:
Haematologica
Pastor, V B, Sahoo, S, Boklan, J, Schwabe, G C, Saribeyoglu, E, Strahm, B, Lebrecht, D, Voss, M, Bryceson, Y T, Erlacher, M, Ehninger, G, Niewisch, M, Schlegelberger, B, Baumann, I, Achermann, J C, Shimamura, A, Hochrein, J, Tedgård, U, Nilsson, L, Hasle, H, Boerries, M, Busch, H, Niemeyer, C M & Wlodarski, M W 2018, ' Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7 ', Haematologica, vol. 103, no. 3, pp. 427-437 . https://doi.org/10.3324/haematol.2017.180778
Pastor, V B, Sahoo, S, Boklan, J, Schwabe, G C, Saribeyoglu, E, Strahm, B, Lebrecht, D, Voss, M, Bryceson, Y T, Erlacher, M, Ehninger, G, Niewisch, M, Schlegelberger, B, Baumann, I, Achermann, J C, Shimamura, A, Hochrein, J, Tedgård, U, Nilsson, L, Hasle, H, Boerries, M, Busch, H, Niemeyer, C M & Wlodarski, M W 2018, ' Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7 ', Haematologica, vol. 103, no. 3, pp. 427-437 . https://doi.org/10.3324/haematol.2017.180778
Familial myelodysplastic syndromes arise from haploinsufficiency of genes involved in hematopoiesis and are primarily associated with early-onset disease. Here we describe a familial syndrome in seven patients from four unrelated pedigrees presenting
Autor:
Jan-Inge Henter, Yenan T. Bryceson, Merja Möttönen, H. Haluk Akar, Johanna Hästbacka, Magnus Nordenskjöld, Miguel R. Abboud, Sule Unal, Turkan Patiroglu, Hans Christian Erichsen, Omer Devecioglu, Kristina Lagerstedt-Robinson, Tor Henrik Anderson Tvedt, Magnus Sabel, Ayşegül Ünüvar, Susana Nunes, Marie Meeths, Zühre Kaya, Burcu Fatma Belen, Ekrem Unal, Bianca Tesi, Samuel C. C. Chiang, Zehra Fadoo, Ebru Tugrul Saribeyoglu, Allen Eng Juh Yeoh, Eya Ben Bdira
Publikováno v:
Genome Medicine
Background: Hemophagocytic lymphohistiocytosis (HLH) is a rapid-onset, potentially fatal hyperinflammatory syndrome. A prompt molecular diagnosis is crucial for appropriate clinical management. Here, we validated and prospectively evaluated a targete