「Germline and somatic RUNX1 variants in a pediatric bone marrow failure cohort」の関連論文
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悪性リンパ腫における血中循環細胞外遊離DNAを用いたゲノム解析に関する研究
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無巨核球性血小板減少症を伴う橈尺骨癒合症のモデルマウス作製と病態解析
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Phosphorylated proteome analysis of a novel germline ABL1 mutation causing an autosomal dominant syndrome with ventricular septal defect
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Successful treatment of a novel type I interferonopathy due to a de novo PSMB9 gene mutation with a Janus kinase inhibitor
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Mutations in SAM syndrome and palmoplantar keratoderma patients suggest genotype/phenotype correlations in DSG1 mutations
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Whole-exome analysis of 177 pediatric patients with undiagnosed diseases
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“その他の医原性免疫不全関連リンパ増殖性疾患”の臨床的特徴及び遺伝子変異解析についての研究
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Clinical diagnostic value of telomere length measurement in inherited bone marrow failure syndromes
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末梢血のmulticolor flowcytometryとliquid biopsyによるcell-free DNAのRHOAG17V変異解析を組み合わせた血管免疫芽球性T細胞リンパ腫解析法の確立 および ホジキンリンパ腫細胞株(AM-HLH)の樹立
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マルチリージョンシークエンスを用いた腫瘍内不均一性と腫瘍進化の過程の解析
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鰓耳腎症候群における多様な臨床表現型と遺伝型の検討
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Genetic analysis of pheochromocytoma and paraganglioma complicating cyanotic congenital heart disease
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神経線維腫症2型の臨床的・遺伝的背景の解析
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原発性膠芽腫におけるTERTプロモーター領域遺伝子変異の臨床的・病理学的意義
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Detection of subclonal SETBP1 and JAK3 mutations in juvenile myelomonocytic leukemia using droplet digital PCR
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ジュベール症候群関連疾患の臨床遺伝学的解析
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日本人高度蛋白尿患者に対する包括的遺伝子診断
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A heterozygous SERPINB7 mutation is a possible modifying factor for epidermolytic palmoplantar keratoderma
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慢性肉芽腫症における肉芽腫形成の機序の解明と新規治療薬の開発
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Histiocytic and dendritic cell neoplasms: Reappraisal of a Japanese series based on t(14;18) and neoplastic PD-L1 expression
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再発難治性白血病に対する個別化医療を目指した患者特異的治療標的の同定
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Integrated diagnosis based on transcriptome analysis in suspected pediatric sarcomas
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Integrated genetic and epigenetic analysis revealed heterogeneity of acute lymphoblastic leukemia in Down syndrome
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PRKN遺伝子変異患者における分子遺伝学的多様性および神経病理学的特徴
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リスク因子別にみた表在型食道扁平上皮癌のゲノム変化の特徴
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眼窩内海綿状血管奇形における新規関連遺伝子変異の同定と機能解析
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癌患者ゲノミクスデータ解析を基盤とした乳癌幹細胞性維持機構の解明
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Prognostic value of somatic mutations at remission in acute myeloid leukemia
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Clinical significance of RAS pathway alterations in pediatric acute myeloid leukemia
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慢性骨髄性白血病における血中循環腫瘍 DNA を用いた全エクソームシークエンスの臨床的有用性の検討
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H3F3A mutant allele specific imbalance in an aggressive subtype of diffuse midline glioma, H3 K27M-mutant
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Donor single nucleotide polymorphism in ACAT1 affects the incidence of graft‑versus‑host disease after bone marrow transplantation
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FLI1遺伝子マイクロサテライト多型と全身性強皮症との関連の検討
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Downregulation of HLA class II is associated with relapse after allogeneic stem cell transplantation and alters recognition by antigen specific T cells
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悪性胸膜中皮腫における統合的ゲノム解析
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全エクソーム解析による成人発症遺伝性ミオパチーの新規遺伝子変異同定
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Ependymoma-like tumors with mesenchymal differentiation harboring C11orf95-NCOA1/2 or -RELA fusion: a hitherto unclassified tumor related to ependymoma
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Epidemiology of Japanese patients with atypical hemolytic uremic syndrome, and characteristics of patients with anti-CFH antibodies
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Imaging features of localized IDH wild-type histologically diffuse astrocytomas: a single-institution case series
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Reliability of IDH1-R132H and ATRX and/or p53 immunohistochemistry for molecular subclassification of Grade 2/3 gliomas
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転移または再発乳癌の末梢血循環DNA変異解析の検討
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Runx3の下流遺伝子群の解析による悪性黒色腫に対する新規治療標的の創出
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Investigation of therapeutic target of DNMT3A-mutant acute myeloid leukemia
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Rare single-nucleotide DAB1 variants and their contribution to Schizophrenia and autism spectrum disorder susceptibility
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Clinicopathologic Analysis of Primary Adrenal Diffuse Large B-Cell Lymphoma : A Reappraisal of 23 Japanese Patients Based on EBV Association and PD-L1 Expression in Tumor Cells
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全身性エリテマトーデスの免疫細胞種網羅的トランスクリプトームデータに基づく患者層別化解析
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家族性高コレステロール血症の遺伝子変異と病態の多様性に関する研究
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Myh9 R702C is associated with erythroid abnormality with splenomegaly in mice
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膵癌における腹腔洗浄液を用いたリキッドバイオプシーの臨床的有用性の検討
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疾患特異的ヒトiPS細胞を用いた新規ADPKD病態モデルの作製