Annalisa Frattini

Varese, 21100, Italy

Last Updated: 09/26/2026

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 23 publications

How deep is deep enough? The importance of the detection limits of the CML minimal residual disease gDNA assay.

How deep is deep enough? The importance of the detection limits of the CML minimal residual disease gDNA assay.

Journal: Cell death discovery
Published: March 05, 2026

Cytogenetics of Shwachman Diamond syndrome: 27 years report of the Italian cohort and review of the literature.

Cytogenetics of Shwachman Diamond syndrome: 27 years report of the Italian cohort and review of the literature.

Journal: European journal of medical genetics
Published: July 16, 2025

Development of translational read-through-inducing drugs as novel therapeutic options for patients with Fanconi anemia.

Development of translational read-through-inducing drugs as novel therapeutic options for patients with Fanconi anemia.

Journal: Cell death discovery
Published: January 21, 2025

A Distinctive Type of Mosaic Variegated Aneuploidy: Case Report and Review of the Literature.

A Distinctive Type of Mosaic Variegated Aneuploidy: Case Report and Review of the Literature.

Journal: American journal of medical genetics. Part A
Published: May 30, 2024

The synergism of SMC1A cohesin gene silencing and bevacizumab against colorectal cancer.

The synergism of SMC1A cohesin gene silencing and bevacizumab against colorectal cancer.

Journal: Journal of experimental & clinical cancer research : CR
Published: January 02, 2024

Donor Cell Acute Myeloid Leukemia after Hematopoietic Stem Cell Transplantation for Chronic Granulomatous Disease: A Case Report and Literature Review.

Donor Cell Acute Myeloid Leukemia after Hematopoietic Stem Cell Transplantation for Chronic Granulomatous Disease: A Case Report and Literature Review.

Journal: Genes
Published: October 25, 2023

Occurrence of L1M Elements in Chromosomal Rearrangements Associated to Chronic Myeloid Leukemia (CML): Insights from Patient-Specific Breakpoints Characterization.

Occurrence of L1M Elements in Chromosomal Rearrangements Associated to Chronic Myeloid Leukemia (CML): Insights from Patient-Specific Breakpoints Characterization.

Journal: Genes
Published: June 01, 2023

Ataluren improves myelopoiesis and neutrophil chemotaxis by restoring ribosome biogenesis and reducing p53 levels in Shwachman-Diamond syndrome cells.

Ataluren improves myelopoiesis and neutrophil chemotaxis by restoring ribosome biogenesis and reducing p53 levels in Shwachman-Diamond syndrome cells.

Journal: British journal of haematology
Published: March 23, 2023

Case Report: Heterozygous Germline Variant in EIF6 Additional to Biallelic SBDS Pathogenic Variants in a Patient With Ribosomopathy Shwachman-Diamond Syndrome.

Case Report: Heterozygous Germline Variant in EIF6 Additional to Biallelic SBDS Pathogenic Variants in a Patient With Ribosomopathy Shwachman-Diamond Syndrome.

Journal: Frontiers in genetics
Published: May 09, 2022

Enhanced p53 Levels Are Involved in the Reduced Mineralization Capacity of Osteoblasts Derived from Shwachman-Diamond Syndrome Subjects.

Enhanced p53 Levels Are Involved in the Reduced Mineralization Capacity of Osteoblasts Derived from Shwachman-Diamond Syndrome Subjects.

Journal: International journal of molecular sciences
Published: November 11, 2021

The frequent and clinically benign anomalies of chromosomes 7 and 20 in Shwachman-diamond syndrome may be subject to further clonal variations.

The frequent and clinically benign anomalies of chromosomes 7 and 20 in Shwachman-diamond syndrome may be subject to further clonal variations.

Journal: Molecular cytogenetics
Published: August 31, 2021

Paracrine effect of human adipose-derived stem cells on lymphatic endothelial cells.

Paracrine effect of human adipose-derived stem cells on lymphatic endothelial cells.

Journal: Regenerative medicine
Published: November 17, 2020
Showing 1-12 of 23

Last Updated: 09/26/2026