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American journal of clinical pathology, ISSN 0002-9173, 08/2019, Volume 152, Issue 3, pp. 258 - 276
The 2017 Workshop of the Society for Hematopathology/European Association for Haematopathology aimed to review clinical cases with germline predisposition to... 
Journal Article
Seminars in Hematology, ISSN 0037-1963, 01/2019, Volume 56, Issue 1, pp. 1 - 1
Journal Article
International Journal of Laboratory Hematology, ISSN 1751-5521, 05/2019, Volume 41, Issue S1, pp. 131 - 141
Advances in molecular genetic sequencing techniques have contributed to the elucidation of previously unknown germline mutations responsible for inherited... 
ANKRD26 | myelodysplasia | inherited thrombocytopenia | ETV6 | RUNX1 | RUNX1 MUTATIONS | LEUKEMIA SECONDARY | STEM-CELLS | FAMILIAL THROMBOCYTOPENIA | ANKRD26 GENE | SOMATIC MUTATIONS | AUTOSOMAL-DOMINANT THROMBOCYTOPENIA | HEMATOLOGICAL MALIGNANCIES | HEMATOLOGY | MYELODYSPLASTIC SYNDROMES | Hematologic Neoplasms - therapy | Genetic Diseases, Inborn - blood | Genetic Diseases, Inborn - genetics | Genetic Diseases, Inborn - therapy | Myelodysplastic Syndromes - blood | Genetic Counseling | Thrombocytopenia - genetics | Myelodysplastic Syndromes - therapy | Allografts | Genes, Dominant | Neoplasm Proteins | Germ-Line Mutation | Thrombocytopenia - therapy | Genetic Diseases, Inborn - diagnosis | Leukemia, Myeloid, Acute - therapy | Hematologic Neoplasms - diagnosis | Genetic Predisposition to Disease | Hematopoietic Stem Cell Transplantation | Leukemia, Myeloid, Acute - blood | Thrombocytopenia - blood | Myelodysplastic Syndromes - diagnosis | Leukemia, Myeloid, Acute - diagnosis | Hematologic Neoplasms - blood | Thrombocytopenia - diagnosis | Hematologic Neoplasms - genetics | Myelodysplastic Syndromes - genetics | Mutation | Leukemia, Myeloid, Acute - genetics | Thrombocytopenia | Development and progression | Genetic aspects | Gene mutations | Leukemia | Hematopoietic stem cells | Dysplasia | Myeloid leukemia | Stem cell transplantation | Runx1 protein | Idiopathic thrombocytopenic purpura | Malignancy | Myelodysplasia | Patients | Myelodysplastic syndrome | Hemopoiesis | Thrombocytopenic purpura | Genetic counseling | Purpura | Pancytopenia | Bone marrow | Platelets | Acute myeloid leukemia | Tumors
Journal Article
Haematologica, ISSN 0390-6078, 08/2019, p. haematol.2019.223370
Journal Article
Seminars in Hematology, ISSN 0037-1963, 01/2019, Volume 56, Issue 1, pp. 65 - 68
Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired condition in which, due to a mutation of the phosphatidylinositol glycan class A gene, hematopoietic... 
FLAER | Bone Marrow | Paroxysmal nocturnal hemoglobinuria (PNH) | DIAGNOSIS | CELLS | PERIPHERAL-BLOOD | FLOW-CYTOMETRY | PIG-A | PROTEINS | HEMATOLOGY | EXPRESSION | DEFICIENCY | Hemoglobinuria, Paroxysmal - pathology | Flow Cytometry | Hemoglobinuria, Paroxysmal - diagnosis | Humans
Journal Article
Clinical Infectious Diseases, ISSN 1058-4838, 07/2016, Volume 63, Issue 1, pp. 41 - 41
Most patients infected with Epstein-Barr virus (EBV) are asymptomatic, have nonspecific symptoms, or have self-limiting infectious mononucleosis. EBV, however,... 
Journal Article
Blood, ISSN 0006-4971, 12/2014, Volume 124, Issue 21, pp. 1247 - 1247
Abstract Background: Mutations in the zinc finger transcription factor GATA2 are responsible for: MonoMAC, monocytopenia with nontuberculous mycobacterial... 
Journal Article
by Klionsky, Daniel J and Abdalla, Fabio C and Abeliovich, Hagai and Abraham, Robert T and Acevedo-Arozena, Abraham and Adeli, Khosrow and Agholme, Lotta and Agnello, Maria and Agostinis, Patrizia and Aguirre-Ghiso, Julio A and Ahn, Hyung Jun and Ait-Mohamed, Ouardia and Ait-Si-Ali, Slimane and Akematsu, Takahiko and Akira, Shizuo and Al-Younes, Hesham M and Al-Zeer, Munir A and Albert, Matthew L and Albin, Roger L and Alegre-Abarrategui, Javier and Aleo, Maria Francesca and Alirezaei, Mehrdad and Almasan, Alexandru and Almonte-Becerril, Maylin and Amano, Atsuo and Amaravadi, Ravi K and Amarnath, Shoba and Amer, Amal O and Andrieu-Abadie, Nathalie and Anantharam, Vellareddy and Ann, David K and Anoopkumar-Dukie, Shailendra and Aoki, Hiroshi and Apostolova, Nadezda and Arancia, Giuseppe and Aris, John P and Asanuma, Katsuhiko and Asare, Nana Y.O and Ashida, Hisashi and Askanas, Valerie and Askew, David S and Auberger, Patrick and Baba, Misuzu and Backues, Steven K and Baehrecke, Eric H and Bahr, Ben A and Bai, Xue-Yuan and Bailly, Yannick and Baiocchi, Robert and Baldini, Giulia and Balduini, Walter and Ballabio, Andrea and Bamber, Bruce A and Bampton, Edward T.W and Juhász, Gábor and Bartholomew, Clinton R and Bassham, Diane C and Bast, Robert C and Batoko, Henri and Bay, Boon-Huat and Beau, Isabelle and Béchet, Daniel M and Begley, Thomas J and Behl, Christian and Behrends, Christian and Bekri, Soumeya and Bellaire, Bryan and Bendall, Linda J and Benetti, Luca and Berliocchi, Laura and Bernardi, Henri and Bernassola, Francesca and Besteiro, Sébastien and Bhatia-Kissova, Ingrid and Bi, Xiaoning and Biard-Piechaczyk, Martine and Blum, Janice S and Boise, Lawrence H and Bonaldo, Paolo and Boone, David L and Bornhauser, Beat C and Bortoluci, Karina R and Bossis, Ioannis and Bost, Frédéric and Bourquin, Jean-Pierre and Boya, Patricia and Boyer-Guittaut, Michaël and Bozhkov, Peter V and Brady, Nathan R and Brancolini, Claudio and Brech, Andreas and Brenman, Jay E and Brennand, Ana and Bresnick, Emery H and Brest, Patrick and Bridges, Dave and Bristol, Molly L and Brookes, Paul S and Brown, Eric J and Brumell, John H and ... and Linköpings universitet and Institutionen för klinisk och experimentell medicin and Geriatrik and Institutionen för medicin och hälsa and Farmakologi and Experimentell patologi and Hälsouniversitetet and Cellbiologi
Autophagy, ISSN 1554-8627, 04/2012, Volume 8, Issue 4, pp. 445 - 544
Journal Article
Lancet Oncology, The, ISSN 1470-2045, 2015, Volume 16, Issue 2, pp. 169 - 176
Journal Article
Blood, ISSN 0006-4971, 12/2014, Volume 124, Issue 21, pp. 1338 - 1338
Abstract Wiskott-Aldrich Syndrome (WAS) is a primary immunodeficiency that is associated with microthrombocytopenia. Autoimmunity is one of the defining... 
Journal Article