Annalisa Frattini

Institute of Genetic and Biomedical Research — Italy

Biochemistry, Genetics and Molecular Biology · Life Sciences

31h-index5.6kcitations105works3.72yr avg
OpenAlex↗ORCID↗Google Scholar↗Lab page↗

Accepting Students?

No reports yet. Know if this professor is taking students?

Research Topics

Bone Metabolism and Diseases(29), Bone health and treatments(21), Blood disorders and treatments(17), Immunodeficiency and Autoimmune Disorders(13), Genomics and Chromatin Dynamics(10)

Publications105 total

Development of translational read-through-inducing drugs as novel therapeutic options for patients with Fanconi anemia
Cell Death Discovery·2025· 2 citedOpen Access
A Distinctive Type of Mosaic Variegated Aneuploidy: Case Report and Review of the Literature
American Journal of Medical Genetics Part A·2024· 1 citedOpen Access
The synergism of SMC1A cohesin gene silencing and bevacizumab against colorectal cancer
Journal of Experimental & Clinical Cancer Research·2024· 8 citedOpen Access
Donor Cell Acute Myeloid Leukemia after Hematopoietic Stem Cell Transplantation for Chronic Granulomatous Disease: A Case Report and Literature Review
Genes·2023· 1 citedOpen Access
Ataluren improves myelopoiesis and neutrophil chemotaxis by restoring ribosome biogenesis and reducing p53 levels in Shwachman–Diamond syndrome cells
British Journal of Haematology·2023· 12 citedOpen Access
Occurrence of L1M Elements in Chromosomal Rearrangements Associated to Chronic Myeloid Leukemia (CML): Insights from Patient-Specific Breakpoints Characterization
Genes·2023· 1 citedOpen Access
Case Report: Heterozygous Germline Variant in EIF6 Additional to Biallelic SBDS Pathogenic Variants in a Patient With Ribosomopathy Shwachman–Diamond Syndrome
Frontiers in Genetics·2022· 2 citedOpen Access
Enhanced p53 Levels Are Involved in the Reduced Mineralization Capacity of Osteoblasts Derived from Shwachman–Diamond Syndrome Subjects
International Journal of Molecular Sciences·2021· 9 citedOpen Access
The frequent and clinically benign anomalies of chromosomes 7 and 20 in Shwachman-diamond syndrome may be subject to further clonal variations
Molecular Cytogenetics·2021· 14 citedOpen Access
Paracrine Effect of Human Adipose-Derived Stem Cells on Lymphatic Endothelial Cells
Regenerative Medicine·2020· 18 citedOpen Access
Chromosome Missegregation in Single Human Oocytes Is Related to the Age and Gene Expression Profile
International Journal of Molecular Sciences·2020· 43 citedOpen Access
Microarray expression studies on bone marrow of patients with Shwachman-Diamond syndrome in relation to deletion of the long arm of chromosome 20, other chromosome anomalies or normal karyotype
Molecular Cytogenetics·2020· 3 citedOpen Access
Novel evidence of karyotype instability in Shwachman Diamond Syndrome
IrInSubria (University of Insubria)·2019
Shwachman‐Diamond syndrome with clonal interstitial deletion of the long arm of chromosome 20 in bone marrow: haematological features, prognosis and genomic instability
British Journal of Haematology·2018· 30 citedOpen Access
The human RNASET2 protein affects the polarization pattern of human macrophages in vitro
Immunology Letters·2018· 29 cited
Toxicogenomics applied to in vitro Cell Transformation Assay reveals mechanisms of early response to cadmium
Toxicology in Vitro·2018· 10 cited
Bone marrow failure may be caused by chromosome anomalies exerting effects on RUNX1T1 gene
Molecular Cytogenetics·2018· 4 citedOpen Access
Shwachman-Diamond syndrome: diagnosis, pathogenesis and prognosis
Expert Opinion on Orphan Drugs·2017· 6 cited
Novel recurrent chromosome anomalies in Shwachman–Diamond syndrome
Pediatric Blood & Cancer·2017· 18 cited
Paracrine effect of adipose derived stem cells (ASCs) on Lymphatic Endothelial Cells (LECs) and lymphangiogenesis
IrInSubria (University of Insubria)·2017
page 1 of 6Next →

Frequent Co-authors

Paolo Vezzoni(28), Anna Villa(25), Cristina Sobacchi(9), Alessandra Pangrazio(8), Roberto Valli(8), Luigi D. Notarangelo(7), Francesco Pasquali(7), Mario Abinun(6), Antonio Musio(6), Ileana Zucchi(6), Paul J. Orchard(5), S. P. Lucia(5), Anna Teti(5), Cristina Patrosso(5), Sara Faranda(5), Silvia Giliani(4), Alberto Albertini(4), Emanuela Maserati(4), Monica Repetto(4), Giovanni Porta(4)