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1. Full Text Delineation of EFTUD2 Haploinsufficiency‐Related Phenotypes Through a Series of 36 Patients
by Lehalle, Daphné and Gordon, Christopher T and Oufadem, Myriam and Goudefroye, Géraldine and Boutaud, Lucile and Alessandri, Jean‐Luc and Baena, Neus and Baujat, Geneviève and Baumann, Clarisse and Boute‐Benejean, Odile and Caumes, Roseline and Decaestecker, Charles and Gaillard, Dominique and Goldenberg, Alice and Gonzales, Marie and Holder‐Espinasse, Muriel and Jacquemont, Marie‐Line and Lacombe, Didier and Manouvrier‐Hanu, Sylvie and Marlin, Sandrine and Mathieu‐Dramard, Michèle and Morin, Gilles and Pasquier, Laurent and Petit, Florence and Rio, Marlène and Smigiel, Robert and Thauvin‐Robinet, Christel and Vasiljevic, Alexandre and Verloes, Alain and Malan, Valérie and Munnich, Arnold and Pontual, Loïc and Vekemans, Michel and Lyonnet, Stanislas and Attié‐Bitach, Tania and Amiel, Jeanne
Human mutation, ISSN 1059-7794, 04/2014, Volume 35, Issue 4, pp. 478 - 485
EFTUD2 | microcephaly | mandibulofacial dysostosis | spliceosome | Spliceosome | Microcephaly | Mandibulofacial dysostosis | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Abnormalities, Multiple - pathology | Peptide Elongation Factors - metabolism | Microcephaly - genetics | Ear, External - pathology | Humans | Mandibulofacial Dysostosis - pathology | Child, Preschool | Ribonucleoprotein, U5 Small Nuclear - metabolism | Infant | Male | Anus, Imperforate - pathology | Ribonucleoprotein, U5 Small Nuclear - genetics | Intellectual Disability - genetics | Thrombocytopenia - genetics | Mandibulofacial Dysostosis - genetics | Hearing Loss, Bilateral - pathology | Microcephaly - pathology | Female | Child | Peptide Elongation Factors - genetics | Abnormalities, Multiple - genetics | Diagnosis, Differential | Ophthalmoplegia - pathology | Prenatal Diagnosis | Intellectual Disability - pathology | Hearing Loss, Bilateral - genetics | Thrombocytopenia - pathology | Haploinsufficiency | Pregnancy | Phenotype | Hand Deformities, Congenital - genetics | Anus, Imperforate - genetics | Ophthalmoplegia - genetics | Mutation | Hand Deformities, Congenital - pathology | Genetic aspects | Genetic disorders | Birth defects | Index Medicus
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2. Full Text Placental Pathology in Down Syndrome-Associated Transient Abnormal Myelopoiesis
by Kuo, Enoch and Kumarapeli, Asangi R
Archives of pathology & laboratory medicine (1976), ISSN 0003-9985, 03/2020, Volume 144, Issue 3, pp. 388 - 393
Pathology | Life Sciences & Biomedicine | Medical Laboratory Technology | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Infants (Premature) | Hydrops fetalis | Down syndrome | Erythropoiesis | Neonates | Splenomegaly | Trisomy | Laboratories | Leukemia | Liver | Dermis | Blood | GATA-1 protein | Down's syndrome | Peripheral blood | Bone marrow | Skin diseases | Myelopoiesis | Chromosomes | Blast cells | Jaundice | Thrombocytopenia | Edema | Fetuses | Blood vessels | Myeloproliferative diseases | Hemopoiesis | Leukocytosis | Placenta | Chromosome 21 | Mosaicism | Skin | Umbilical cord | Mutation | Ascites | Cytoplasm | Veins & arteries | Index Medicus | Abridged Index Medicus
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3. Full Text Thrombocytopenic coagulopathy (Kasabach-Merritt Phenomenon) is associated with Kaposiform hemangioendothelioma and not with common infantile hemangioma
by Sarkar, Molly and Mulliken, John B and Kozakewich, Harry P. W and Robertson, Richard L and Burrows, Patricia E
Plastic and reconstructive surgery (1963), ISSN 0032-1052, 1997, Volume 100, Issue 6, pp. 1377 - 1386
Hematologic and hematopoietic diseases | Biological and medical sciences | Medical sciences | Platelet diseases and coagulopathies | Thoracic Neoplasms - therapy | Hemangioendothelioma - diagnosis | Blood Vessels - pathology | Humans | Retroperitoneal Neoplasms - therapy | Infant | Male | Antineoplastic Agents - therapeutic use | Recombinant Proteins | Ecchymosis - pathology | Basement Membrane - pathology | Retroperitoneal Neoplasms - diagnosis | Thrombocytopenia - complications | Hemangioendothelioma - pathology | Skin Neoplasms - diagnosis | Female | Retrospective Studies | Retroperitoneal Neoplasms - pathology | Infant, Newborn | Skin Neoplasms - pathology | Hemangioendothelioma - therapy | Skin Neoplasms - therapy | Adipose Tissue - pathology | Head and Neck Neoplasms - therapy | Interferon-alpha - therapeutic use | Thoracic Neoplasms - pathology | Retroperitoneal Neoplasms - complications | Hemangioma - diagnosis | Microscopy, Electron | Thrombocytopenia - pathology | Syndrome | Head and Neck Neoplasms - pathology | Skin Neoplasms - complications | Lymphoid Tissue - pathology | Magnetic Resonance Imaging | Purpura, Thrombocytopenic - pathology | Thoracic Neoplasms - diagnosis | Thoracic Neoplasms - complications | Interferon alpha-2 | Endothelium, Vascular - pathology | Head and Neck Neoplasms - complications | Head and Neck Neoplasms - diagnosis | Thrombocytopenia - diagnosis | Hemosiderin - analysis | Edema - pathology | Hemangioendothelioma - complications | Index Medicus | Abridged Index Medicus
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4. Full Text Inflammation and oxidative stress in viper bite: An insight within and beyond
by Sunitha, K and Hemshekhar, M and Thushara, R.M and Santhosh, M. Sebastin and Sundaram, M. Shanmuga and Kemparaju, K and Girish, K.S
Toxicon (Oxford), ISSN 0041-0101, 05/2015, Volume 98, pp. 89 - 97
Hyaluronidase | Oxidative stress | Damage associated molecular patterns (DAMPs) | SVMPs | Secondary complications | Viper venom | Damage associated molecular patterns | DAMPs | Pharmacology & Pharmacy | Toxicology | Life Sciences & Biomedicine | Science & Technology | Inflammation - pathology | Urogenital Abnormalities - etiology | Kidney - pathology | Humans | Homeostasis | Hemorrhage - prevention & control | Antivenins - therapeutic use | Necrosis - pathology | Snake Bites - pathology | Inflammation - drug therapy | Urogenital Abnormalities - prevention & control | Hemorrhage - etiology | Hypopituitarism - pathology | Hypopituitarism - prevention & control | Snake Bites - complications | Disease Models, Animal | Snake Bites - drug therapy | Thrombocytopenia - etiology | Hypopituitarism - etiology | Thrombocytopenia - pathology | Inflammation - etiology | Necrosis - prevention & control | Viper Venoms - toxicity | Antioxidants - therapeutic use | Urogenital Abnormalities - pathology | Animals | Kidney - abnormalities | Necrosis - etiology | Thrombocytopenia - prevention & control | Oxidative Stress - drug effects | Hemorrhage - pathology | Poisonous snakes | Antioxidants | Enzymes | Inflammation | Index Medicus | Stresses | Pathology | Turbulence | Fluid dynamics | Abnormalities | Disturbances | Exploration | Dampness
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5. Full Text Extracorporeal photochemotherapy for the treatment of steroid-resistant chronic GVHD
by Couriel, Daniel R and Hosing, Chitra and Saliba, Rima and Shpall, Elizabeth J and Anderlini, Paolo and Rhodes, Beverly and Smith, Veronica and Khouri, Issa and Giralt, Sergio and De Lima, Marcos and Hsu, Yvonne and Ghosh, Shubhra and Neumann, Joyce and Andersson, Borje and Qazilbash, Muzzafar and Hymes, Sharon and Kim, Stella and Champlin, Richard and Donato, Michele
Blood, ISSN 0006-4971, 04/2006, Volume 107, Issue 8, pp. 3074 - 3080
Life Sciences & Biomedicine | Hematology | Science & Technology | Anesthesia. Intensive care medicine. Transfusions. Cell therapy and gene therapy | Bone marrow, stem cells transplantation. Graft versus host reaction | Hemopathies | Transfusions. Complications. Transfusion reactions. Cell and gene therapy | Biological and medical sciences | Medical sciences | Radiotherapy. Instrumental treatment. Physiotherapy. Reeducation. Rehabilitation, orthophony, crenotherapy. Diet therapy and various other treatments (general aspects) | Anemia, Sickle Cell - pathology | Graft vs Host Disease - therapy | Eye - pathology | Liver - pathology | Immunosuppression - methods | Humans | Middle Aged | Child, Preschool | Male | Hematopoietic Stem Cell Transplantation - mortality | Anemia, Aplastic - therapy | Transplantation, Homologous | Breast Neoplasms - therapy | Immunosuppression - mortality | Anemia, Aplastic - mortality | Graft vs Host Disease - mortality | Immunosuppression - adverse effects | Photopheresis - mortality | Adult | Female | Photopheresis - methods | Retrospective Studies | Steroids - therapeutic use | Mouth Mucosa - pathology | Anemia, Aplastic - complications | Child | Graft vs Host Disease - etiology | Skin - pathology | Anemia, Aplastic - pathology | Steroids - adverse effects | Anemia, Sickle Cell - complications | Treatment Outcome | Drug Resistance - drug effects | Thrombocytopenia - pathology | Lymphoproliferative Disorders - pathology | Graft vs Host Disease - pathology | Anemia, Sickle Cell - therapy | Breast Neoplasms - complications | Disease-Free Survival | Lymphoproliferative Disorders - mortality | Anemia, Sickle Cell - mortality | Breast Neoplasms - pathology | Adolescent | Breast Neoplasms - mortality | Aged | Hematopoietic Stem Cell Transplantation - methods | Chronic Disease | Index Medicus | Abridged Index Medicus
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6. Full Text Only severe thrombocytopenia results in bleeding and defective thrombus formation in mice
by Morowski, Martina and Voegtle, Timo and Kraft, Peter and Kleinschnitz, Christoph and Stoll, Guido and Nieswandt, Bernhard
Blood, ISSN 0006-4971, 06/2013, Volume 121, Issue 24, pp. 4938 - 4947
Life Sciences & Biomedicine | Hematology | Science & Technology | Blood Platelets - pathology | Carotid Arteries - metabolism | Hemorrhage - blood | Aorta - metabolism | Thrombocytopenia - pathology | Thrombocytopenia - blood | Aorta - pathology | Stroke - blood | Stroke - pathology | Thrombosis - pathology | Animals | Platelet Count | Blood Platelets - metabolism | Carotid Arteries - pathology | Mice | Thrombosis - blood | Hemorrhage - pathology | Disease Models, Animal | Index Medicus | Abridged Index Medicus
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7. Full Text Allogeneic hematopoietic stem cell transplantation for inherited bone marrow failure syndromes
by Dalle, Jean-Hugues and de Latour, Régis Peffault
International journal of hematology, ISSN 0925-5710, 4/2016, Volume 103, Issue 4, pp. 373 - 379
Stem cell transplantation | Pediatrics | Oncology | Medicine & Public Health | Hematology | Inherited bone marrow failure disorders | Life Sciences & Biomedicine | Science & Technology | Humans | Hemoglobinuria, Paroxysmal - pathology | Lipomatosis - therapy | Anemia, Aplastic - therapy | Neutropenia - congenital | Thrombocytopenia - complications | Neutropenia - complications | Dyskeratosis Congenita - complications | Bone Marrow Diseases - therapy | Dyskeratosis Congenita - therapy | Lipomatosis - pathology | Anemia, Diamond-Blackfan - therapy | Neutropenia - pathology | Fanconi Anemia - pathology | Thrombocytopenia - therapy | Anemia, Diamond-Blackfan - complications | Anemia, Diamond-Blackfan - pathology | Anemia, Aplastic - complications | Anemia, Aplastic - pathology | Bone Marrow Diseases - complications | Exocrine Pancreatic Insufficiency - complications | Fanconi Anemia - complications | Exocrine Pancreatic Insufficiency - pathology | Bone Marrow Diseases - pathology | Thrombocytopenia - pathology | Exocrine Pancreatic Insufficiency - therapy | Bone Marrow - pathology | Dyskeratosis Congenita - pathology | Neutropenia - therapy | Lipomatosis - complications | Fanconi Anemia - therapy | Hematopoietic Stem Cell Transplantation - methods | Hemoglobinuria, Paroxysmal - therapy | Hemoglobinuria, Paroxysmal - complications | Leukemia | Stem cells | Bone marrow | Genetic aspects | Transplantation | Hematopoietic stem cells | Fanconi's anemia | Index Medicus
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8. Full Text Hairy cell leukemia: Uncommon clinical features, unusual sites of involvement and some rare associations
by Tadmor, Tamar and Polliack, Aaron
Best practice & research. Clinical haematology, ISSN 1521-6926, 2015, Volume 28, Issue 4, pp. 193 - 199
Hematology, Oncology and Palliative Medicine | Rare manifestations | Clinical features | Hairy cell leukemia (HCL) | Life Sciences & Biomedicine | Hematology | Science & Technology | Bone and Bones - pathology | Liver - pathology | Lymph Nodes - pathology | Humans | Male | Behcet Syndrome - pathology | Splenomegaly - pathology | Antiphospholipid Syndrome - complications | Thrombocytopenia - complications | Splenomegaly - complications | Splenomegaly - diagnosis | Liver - immunology | Anemia, Hemolytic, Autoimmune - pathology | Lymphatic Diseases - diagnosis | Anemia, Hemolytic, Autoimmune - diagnosis | Female | B-Lymphocytes - pathology | Leukemia, Hairy Cell - pathology | Skin - pathology | Skin - immunology | Leukemia, Hairy Cell - immunology | Antiphospholipid Syndrome - diagnosis | Lymphatic Diseases - immunology | Splenomegaly - immunology | Thrombocytopenia - immunology | Behcet Syndrome - complications | Lymphatic Diseases - complications | Anemia, Hemolytic, Autoimmune - complications | Lymph Nodes - immunology | Thrombocytopenia - pathology | Leukemia, Hairy Cell - diagnosis | Antiphospholipid Syndrome - immunology | B-Lymphocytes - drug effects | Leukemia, Hairy Cell - complications | Antiphospholipid Syndrome - pathology | Anemia, Hemolytic, Autoimmune - immunology | Sex Factors | Lymphatic Diseases - pathology | Thrombocytopenia - diagnosis | Behcet Syndrome - diagnosis | Bone and Bones - immunology | Behcet Syndrome - immunology | Leukemia, Hairy cell | Index Medicus
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9. Full Text Lethal Crimean-Congo Hemorrhagic Fever Virus Infection in Interferon α/β Receptor Knockout Mice Is Associated With High Viral Loads, Proinflammatory Responses, and Coagulopathy
by Marko Zivcec and David Safronetz and Dana Scott and Shelly Robertson and Hideki Ebihara and Heinz Feldmann
The Journal of infectious diseases, ISSN 0022-1899, 6/2013, Volume 207, Issue 12, pp. 1909 - 1921
Pathology | Disease models | Interleukins | Tissue samples | Crimean Congo hemorrhagic fever virus | Viral diseases | Viruses | Infections | Platelets | Dosage | pathology | coagulopathy | proinflammatory response | thrombocytopenia | CCHFV | interferon α/β receptor knockout mice | Infectious Diseases | Immunology | Life Sciences & Biomedicine | Microbiology | Science & Technology | Fundamental and applied biological sciences. Psychology | Miscellaneous | Infectious diseases | Biological and medical sciences | Medical sciences | Virology | Liver - virology | Spleen - virology | Liver - pathology | Viremia | Hemorrhagic Fever, Crimean - complications | Humans | Liver Failure, Acute - virology | Viral Load | Blood Coagulation Disorders - virology | Hemorrhagic Fever, Crimean - immunology | Receptor, Interferon alpha-beta - genetics | Spleen - pathology | Disease Models, Animal | Hemorrhagic Fever Virus, Crimean-Congo - physiology | Cytokines - metabolism | Lymphoid Tissue - virology | Mice, Inbred C57BL | Thrombocytopenia - immunology | Hemorrhagic Fever Virus, Crimean-Congo - immunology | Thrombocytopenia - pathology | Thrombocytopenia - virology | Disease Progression | Mice, Knockout | Lymphoid Tissue - pathology | Animals | Hemorrhagic Fever, Crimean - pathology | Blood Coagulation Disorders - pathology | Receptor, Interferon alpha-beta - immunology | Blood Coagulation Disorders - immunology | Liver Failure, Acute - immunology | Liver Failure, Acute - pathology | Chemokines - metabolism | Mice | Index Medicus | Abridged Index Medicus | Major and Brief Reports | β receptor knockout mice | interferon α
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10. Full Text Selective inhibition of nuclear export with selinexor in patients with non-Hodgkin lymphoma
by Kuruvilla, John and Savona, Michael and Baz, Rachid and Mau-Sorensen, Paul Morten and Gabrail, Nashat and Garzon, Ramiro and Stone, Richard and Wang, Michael and Savoie, Lynn and Martin, Peter and Flinn, Ian and Jacoby, Meagan and Unger, Thaddeus J and Saint-Martin, Jean-Richard and Rashal, Tami and Friedlander, Sharon and Carlson, Robert and Kauffman, Michael and Shacham, Sharon and Gutierrez, Martin
Blood, ISSN 0006-4971, 06/2017, Volume 129, Issue 24, pp. 3175 - 3183
Life Sciences & Biomedicine | Hematology | Science & Technology | Hyponatremia - chemically induced | Triazoles - administration & dosage | Triazoles - adverse effects | Apoptosis - drug effects | Neutropenia - metabolism | Humans | Middle Aged | Anemia - pathology | Male | Neoplasm Proteins - metabolism | Lymphoma, Non-Hodgkin - pathology | Dose-Response Relationship, Drug | Cell Nucleus - metabolism | Cell Nucleus - pathology | Aged, 80 and over | Neutropenia - pathology | Adult | Female | Triazoles - pharmacokinetics | Neutropenia - chemically induced | Hydrazines - administration & dosage | Lymphoma, Non-Hodgkin - drug therapy | Anemia - chemically induced | Hydrazines - pharmacokinetics | Thrombocytopenia - chemically in