Search Results - "YABE, MIHARU"
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Mutations in the Gene Encoding the E2 Conjugating Enzyme UBE2T Cause Fanconi Anemia
Published in American journal of human genetics (04-06-2015)“…Fanconi anemia (FA) is a rare genetic disorder characterized by genome instability, increased cancer susceptibility, progressive bone marrow failure (BMF), and…”
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Long-term outcome in patients with Fanconi anemia who received hematopoietic stem cell transplantation: a retrospective nationwide analysis
Published in International journal of hematology (2021)“…We retrospectively analyzed nationwide records of 163 Fanconi anemia (FA) patients [aplastic anemia (AA), n = 118; myelodysplastic syndrome (MDS), n = 30;…”
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Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes
Published in Genetics in medicine (01-07-2017)“…Purpose: Precise genetic diagnosis of inherited bone marrow failure syndromes (IBMFS), a heterogeneous group of genetic disorders, is challenging but essential…”
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Three Cases of Esophageal Cancer Related to Fanconi Anemia
Published in Internal Medicine (15-09-2021)“…The risk of carcinogenesis increases after 20 years old in patients with Fanconi anemia (FA). We herein report three rare cases of FA combined with esophageal…”
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Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients
Published in Haematologica (Roma) (01-10-2019)“…Fanconi anemia is a rare recessive disease characterized by multiple congenital abnormalities, progressive bone marrow failure, and a predisposition to…”
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Conditioning regimen for allogeneic bone marrow transplantation in children with acquired bone marrow failure: fludarabine/melphalan vs. fludarabine/cyclophosphamide
Published in Bone marrow transplantation (Basingstoke) (01-07-2020)“…Fludarabine/cyclophosphamide-based conditioning regimens are standard in bone marrow transplantation (BMT) for acquired bone marrow failure in children,…”
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Clinical and genetic features of dyskeratosis congenita, cryptic dyskeratosis congenita, and Hoyeraal-Hreidarsson syndrome in Japan
Published in International journal of hematology (01-11-2015)“…Dyskeratosis congenita (DKC) is an inherited bone marrow failure (BMF) syndrome typified by reticulated skin pigmentation, nail dystrophy, and mucosal…”
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Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients
Published in Haematologica (Roma) (01-04-2020)Get full text
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Pluripotent Cell Models of Fanconi Anemia Identify the Early Pathological Defect in Human Hemoangiogenic Progenitors
Published in Stem cells translational medicine (01-04-2015)“…To address the issue of an initial pathological event in Fanconi anemia‐related bone marrow failure (FA‐BMF), induced pluripotent stem cells (iPSCs) were…”
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Transplantation for juvenile myelomonocytic leukemia: a retrospective study of 30 children treated with a regimen of busulfan, fludarabine, and melphalan
Published in International journal of hematology (01-02-2015)“…We report the outcomes of 30 patients with juvenile myelomonocytic leukemia (JMML) who received unmanipulated hematopoietic stem cell transplantation (HSCT)…”
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Diagnosis and management of inherited bone marrow failure syndrome
Published in Rinshō ketsueki (01-10-2015)“…The inherited bone marrow failure syndromes (IBMFS) are rare disorders in which there is usually some form of bone marrow failure and typical changes in…”
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Successful acute lymphoblastic leukemia‐type therapy in two children with mixed‐phenotype acute leukemia
Published in Pediatrics international (01-10-2016)“…Mixed‐phenotype acute leukemia (MPAL) is a rare type of leukemia expressing both myeloid and lymphoid markers. There is limited information, especially on…”
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Acute lymphoblastic leukemia and Down syndrome: the collaborative study of the Tokyo Children’s Cancer Study Group and the Kyushu Yamaguchi Children’s Cancer Study Group
Published in International journal of hematology (01-02-2011)“…The Tokyo Children’s Cancer Study Group (TCCSG) and the Kyushu Yamaguchi Children’s Cancer Study Group (KYCCSG) performed a collaborative analysis of data on…”
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A case of clonally distinct relapse of Burkitt lymphoma 9 years after complete remission
Published in International journal of hematology (01-05-2015)“…We report a case of HIV-negative Burkitt lymphoma (BL) that relapsed 9 years after complete remission. We performed a polymerase chain reaction analysis of…”
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Clinical and pathological features of B-cell non-Hodgkin lymphomas lacking the surface expression of immunoglobulin light chains
Published in Clinical chemistry and laboratory medicine (01-09-2012)“…The flow cytometric analysis of surface immunoglobulin light chains (sIgL) is used as a simple method for evaluating monoclonal B-cell proliferation. However,…”
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Long-Term Follow-Up of Thyroid Function in Patients Who Received Bone Marrow Transplantation during Childhood and Adolescence
Published in The journal of clinical endocrinology and metabolism (01-12-2004)“…An increasing number of long-term surviving bone marrow transplant (BMT) recipients have recovered from their primary disease but are at risk of developing…”
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Fanconi anemia in infancy: report of hematopoietic stem cell transplantation to a 13-month-old patient
Published in International journal of hematology (01-06-2009)Get full text
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A case of congenital bone marrow failure with radio-ulnar synostosis
Published in International journal of hematology (01-03-2010)Get full text
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