Search Results - "Miyako, Kanno"
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Heterozygous calcyclin-binding protein/Siah1-interacting protein (CACYBP/SIP) gene pathogenic variant linked to a dominant family with paucity of interlobular bile duct
Published in Journal of human genetics (01-07-2022)“…Paucity of interlobular bile ducts (PILBD) is a heterogeneous disorder classified into two categories, syndromic and non-syndromic bile duct paucity. Syndromic…”
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Three Consecutive Cases of Familial Hemophagocytic Lymphohistiocytosis, Including a Case Due to Maternal Uniparental Disomy
Published in Journal of pediatric hematology/oncology (01-11-2020)“…We have experienced 3 consecutive cases of familial hemophagocytic lymphohistiocytosis (FHL). All affected infants had mutations in exon 3 of the perforin…”
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3
Eltrombopag with i.v. immunoglobulin for safe splenectomy in refractory immune thrombocytopenia
Published in Pediatrics international (01-02-2018)Get full text
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Association of breast-fed neonatal hyperbilirubinemia with UGT1A1 polymorphisms: 211G>A (G71R) mutation becomes a risk factor under inadequate feeding
Published in Journal of human genetics (01-01-2013)“…Breastfeeding jaundice is a well-known phenomenon, but its pathogenesis is still unclear. Increased production of bilirubin, impaired hepatic uptake and…”
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Association of neonatal hyperbilirubinemia in breast-fed infants with UGT1A1 or SLCOs polymorphisms
Published in Journal of human genetics (01-01-2015)“…Neonates have physiologically increased bilirubin production and immature bilirubin metabolism, and present hyperbilirubinemia in association with genetic and…”
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6
Giant thymolipoma in a young child initially diagnosed as cardiomegaly
Published in Pediatrics international (01-10-2015)Get full text
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7
P527: DISTINCTIVE CLONAL EVOLUTION PATTERN AND PROGNOSTIC SIGNIFICANCE OF THE CLONALITY OF KRAS MUTATIONS IN KMT2A‐REARRANGED ACUTE MYELOID LEUKEMIA
Published in HemaSphere (08-08-2023)Get full text
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Genetic Analysis of Shwachman-Diamond Syndrome: Phenotypic Heterogeneity in Patients Carrying Identical SBDS Mutations
Published in The Tohoku Journal of Experimental Medicine (01-07-2005)“…Shwachman-Diamond syndrome (SDS) is a rare hereditary disorder characterized by pancreatic exocrine insufficiency, bone marrow dysfunction and skeletal…”
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Clonal Evolution Pattern and Prognostic Significance of Clonal Architecture in KMT2A-Rearranged Acute Myeloid Leukemia
Published in Blood (23-11-2021)“…MLL (KMT2A) rearrangements are among the most frequent chromosomal abnormalities that occur in acute myeloid leukemia (AML). Mutational landscapes in…”
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Low Incidence of Osteonecrosis in Childhood Acute Lymphoblastic Leukemia Treated With ALL-97 and ALL-02 Study of Japan Association of Childhood Leukemia Study Group
Published in Journal of clinical oncology (20-03-2018)“…Purpose Osteonecrosis (ON) is a serious complication of the treatment of childhood acute lymphoblastic leukemia (ALL); however, data relating to ON in Asian…”
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Identification of novel ALK rearrangement A2M-ALK in a neonate with fetal lung interstitial tumor
Published in Genes chromosomes & cancer (01-10-2014)“…Fetal lung interstitial tumor (FLIT) is a recently reported type of congenital lung lesion comprising solid and cystic components. The pathological features…”
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Successful treatment of acute myeloid leukaemia in a patient with ataxia telangiectasia
Published in European journal of haematology (01-12-2013)“…Ataxia telangiectasia (AT) is a rare autosomal recessive multisystem disorder characterised by cerebellar degeneration, immunodeficiency and cancer…”
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Low Incidence of Osteonecrosis in Childhood Acute Lymphoblastic Leukemia Treated with ALL-97 and ALL-02 Study of Japan Association of Childhood Leukemia Study Group
Published in Blood (08-12-2017)“…Purpose: Osteonecrosis (ON) is a serious complication of the treatment of childhood acute lymphoblastic leukemia (ALL). The incidence of ON varies (range,…”
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14
Severe hemorrhagic colitis caused by dasatinib in Philadelphia chromosome-positive acute lymphoblastic leukemia
Published in Pediatric hematology and oncology (01-01-2009)Get full text
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SEVERE HEMORRHAGIC COLITIS CAUSED BY DASATINIB IN PHILADELPHIA CHROMOSOME-POSITIVE ACUTE LYMPHOBLASTIC LEUKEMIA
Published in Pediatric hematology and oncology (21-09-2009)Get full text
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Successful treatment of acute myeloid leukaemia in a patient with ataxia telangiectasia
Published in European Journal of Haematology (01-12-2013)Get full text
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