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Francesco Saettini

fondazione irccs san gerardo dei tintori
H指数:15
被引数:753

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Hematologic Manifestations of Constitutional Trisomy 8 Mosaicism: Two Cases and a Systematic Review of Cytogenetically Confirmed Patients

先天性三体8嵌合症的血液学表现:两例报告及细胞遗传学确诊患者的系统综述

2026-09-200
PRE
Impact of CSF3R Mutations on Leukemic Transformation in Severe Congenital Neutropenia: A Retrospective Analysis From the Italian Neutropenia Registry

CSF3R突变对重症先天性中性粒细胞减少症白血病转化影响:来自意大利中性粒细胞减少症登记研究的回顾性分析

2026-02-230
OAAI
Somatic deficiency of the human E3 ubiquitin ligase CBL in leukocytes impairs B cell but not T cell development and function

白细胞中人E3泛素连接酶CBL的体细胞缺陷会损害b细胞,但不会损害T细胞的发育和功能

2026-01-150
OAAI
Cytopenia, Hypocellular Bone Marrow, and Shortened Telomere Length Beyond Biallelic Telomere Biology Gene Mutations

血细胞减少、低细胞骨髓以及双等位基因端粒生物学基因突变之外的端粒长度缩短

2026-01-010
PRE
COAGULATIVE ABNORMALITIES IN PATIENTS WITH CBL SYNDROME
2025-11-010
OAAI
Bone Marrow CD8+Abundance Inversely Correlates with Progressive Marrow Fibrosis and Myelodysplastic Evolution in GATA2 Deficiency: Case Report

GATA2缺陷中,骨髓CD8+细胞丰度与进行性骨髓纤维化和骨髓增生异常演变呈负相关:病例报告

2025-02-200
OA
Autoinflammation in patients with leukocytic CBL loss of heterozygosity is caused by constitutive ERIC-mediated monocyte activation

白细胞CBL杂合性丧失患者的自身炎症是由组成型ERIC介导的单核细胞激活引起的

2024-10-150
PRE
Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia

双等位基因PI4KA突变破坏b细胞代谢并导致b细胞淋巴细胞减少和低丙种球蛋白血症

2024-09-231
PRE
Immunological Aspects of Kabuki Syndrome: A Retrospective Multicenter Study of the Italian Primary Immunodeficiency Network (IPINet)
2024-04-272
PRE
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement
2024-03-1212
OAAI
Small-molecule CBP/p300 histone acetyltransferase inhibition mobilizes leukocytes from the bone marrow via the endocrine stress response

小分子CBP/p300组蛋白乙酰转移酶抑制通过内分泌应激反应从骨髓中动员白细胞

IMMUNITY
IF26.3
2024-02-013
OA
Late-onset and long-lasting neutropenias in the young: A new entity anticipating immune-dysregulation disorders
2024-01-290
PRE
Antibody Deficiency in Patients with Biallelic KARS1 Mutations (Sept, 10.1007/s10875-023-01584-7, 2023)

双等位基因KARS1突变患者的抗体缺乏 (2023,10.1007/s10875-023-01584-7,9月)

2023-11-030
OA
A Nationwide Study of GATA2 Deficiency in Italy Reveals Novel Symptoms and Genotype-phenotype Association
2023-10-141
PRE
Antibody Deficiency in Patients with Biallelic KARS1 Mutations
2023-09-282
PRE