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Academic Journal

Plasma cells with Auer-rod-like inclusions in a patient with MGUS and acute myeloid leukaemia with NPM1 mutation.

Subjects: Nucleophosmin* ; Leukemia, Myeloid, Acute*/Leukemia, Myeloid, Acute*/Leukemia, Myeloid, Acute*/genetics ; Leukemia, Myeloid, Acute*/Leukemia, Myeloid, Acute*/Leukemia, Myeloid, Acute*/pathology

  • Source: British journal of haematology [Br J Haematol] 2024 Aug; Vol. 205 (2), pp. 401-402. Date of Electronic Publication: 2024 Jul 10.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 0372544 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Report

Kabuki syndrome complicated by severe immune thrombocytopenia and autoimmune thyroiditis: Identification of a novel pathogenic mutation.

  • Authors : Qu X; State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Tianjin Key Laboratory of Gene Therapy for Blood Diseases, CAMS Key Laboratory of Gene Therapy for Blood Diseases, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin, China.; Tianjin Institutes of Health Science, Tianjin, China.

Subjects: Vestibular Diseases*/Vestibular Diseases*/Vestibular Diseases*/genetics ; Vestibular Diseases*/Vestibular Diseases*/Vestibular Diseases*/complications ; Purpura, Thrombocytopenic, Idiopathic*/Purpura, Thrombocytopenic, Idiopathic*/Purpura, Thrombocytopenic, Idiopathic*/genetics Kabuki syndrome

  • Source: British journal of haematology [Br J Haematol] 2024 Jul; Vol. 205 (1), pp. 347-351. Date of Electronic Publication: 2024 Apr 08.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 0372544 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Unveiling myeloid transformation: T-LGLL with eosinophilia masking myeloid-associated STAT5B mutation culminating in AML.

  • Authors : Dong Q; Department of Pathology, Case Western Reserve University, Cleveland, Ohio, USA.; Wang Y

Subjects: STAT5 Transcription Factor*/STAT5 Transcription Factor*/STAT5 Transcription Factor*/genetics ; Leukemia, Myeloid, Acute*/Leukemia, Myeloid, Acute*/Leukemia, Myeloid, Acute*/genetics ; Leukemia, Myeloid, Acute*/Leukemia, Myeloid, Acute*/Leukemia, Myeloid, Acute*/pathology

  • Source: British journal of haematology [Br J Haematol] 2024 Jun; Vol. 204 (6), pp. 2487-2491. Date of Electronic Publication: 2024 Mar 20.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 0372544 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Report

A case of de novo -α 3.7 thalassaemia and the utility of CATSA for detecting de novo mutations in thalassaemia.

  • Authors : Zhang L; Medical Genetics Center, Shenzhen Maternity and Child Healthcare Hospital, Shenzhen, Guangdong, China.; Chang M

Subjects: Mutation* ; alpha-Thalassemia*/alpha-Thalassemia*/alpha-Thalassemia*/genetics ; alpha-Thalassemia*/alpha-Thalassemia*/alpha-Thalassemia*/diagnosis

  • Source: British journal of haematology [Br J Haematol] 2024 Jul; Vol. 205 (1), pp. 360-363. Date of Electronic Publication: 2024 May 16.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 0372544 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Editorial & Opinion

Incidence and clinical correlates of NFE2 mutations in myeloid neoplasms.

  • Authors : Martín Castillo I; Hematology Department, Instituto de Investigación Sanitaria INCLIVA, Hospital Clínico Universitario de Valencia, Valencia, Spain.; Villamón E

Subjects: Mutation*; Humans ; Male

  • Source: British journal of haematology [Br J Haematol] 2024 Aug; Vol. 205 (2), pp. 733-737. Date of Electronic Publication: 2024 Jun 06.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 0372544 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Mixed histiocytic neoplasms: A multicentre series revealing diverse somatic mutations and responses to targeted therapy.

  • Authors : Friedman JS; Departments of Neurology, Neurosurgery, and Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Durham BH

Subjects: Mutation* ; Erdheim-Chester Disease*/Erdheim-Chester Disease*/Erdheim-Chester Disease*/genetics ; Erdheim-Chester Disease*/Erdheim-Chester Disease*/Erdheim-Chester Disease*/drug therapy

  • Source: British journal of haematology [Br J Haematol] 2024 Jul; Vol. 205 (1), pp. 127-137. Date of Electronic Publication: 2024 Apr 12.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 0372544 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Mixed histiocytic disorders: Nature versus nurture?

  • Authors : McClain K; Baylor College of Medicine, Texas Children's Cancer and Hematology Centers, Houston, Texas, USA.; Dimitrion P

Subjects: Mutation*; Humans ; Erdheim-Chester Disease/Erdheim-Chester Disease/Erdheim-Chester Disease/genetics

  • Source: British journal of haematology [Br J Haematol] 2024 Jul; Vol. 205 (1), pp. 20-21. Date of Electronic Publication: 2024 May 19.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 0372544 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Molecular characterization of diffuse large B-cell lymphomas associated with hepatitis C virus infection.

  • Authors : Sciarra R; Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Division of Hematology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.

Subjects: Lymphoma, Large B-Cell, Diffuse*/Lymphoma, Large B-Cell, Diffuse*/Lymphoma, Large B-Cell, Diffuse*/genetics ; Lymphoma, Large B-Cell, Diffuse*/Lymphoma, Large B-Cell, Diffuse*/Lymphoma, Large B-Cell, Diffuse*/virology ; Hepatitis C*/Hepatitis C*/Hepatitis C*/complications

  • Source: British journal of haematology [Br J Haematol] 2024 Jun; Vol. 204 (6), pp. 2242-2253. Date of Electronic Publication: 2024 Mar 05.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 0372544 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Natural history of clonal haematopoiesis seen in real-world haematology settings.

  • Authors : Patel SA; Division of Hematology/Oncology, Department of Medicine, UMass Memorial Medical Center, UMass Chan Medical School, Worcester, Massachusetts, USA.; Center for Clinical and Translational Science, UMass Chan Medical School, Worcester, Massachusetts, USA.

Subjects: Clonal Hematopoiesis*/Clonal Hematopoiesis*/Clonal Hematopoiesis*/genetics ; Mutation* ; DNA-Binding Proteins*/DNA-Binding Proteins*/DNA-Binding Proteins*/genetics

  • Source: British journal of haematology [Br J Haematol] 2024 May; Vol. 204 (5), pp. 1844-1855. Date of Electronic Publication: 2024 Mar 24.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 0372544 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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