Roberto Valli
- Deletion of chromosome 20 in bone marrow of patients with S hwachman‐ D iamond syndrome, loss of the EIF6 gene and benign prognosis
2012/02/01 by Barbara Pressato, Roberto Valli, Cristina Marletta +5 · 26 citations
Biochemistry, Genetics and Molecular Biology · Immunology and Microbiology · Medicine · #Blood disorders and treatments #Immunodeficiency and Autoimmune Disorders #Pneumocystis jirovecii pneumonia detection and treatment
- Whole exome sequencing discloses heterozygous variants in the DNAJC 21 and EFL 1 genes but not in SRP 54 in 6 out of 16 patients with Shwachman‐Diamond Syndrome carrying biallelic SBDS mutations
2018/09/10 by Jacopo Morini, Lucia Nacci, Gabriele Babini +11 · 11 citations
Biochemistry, Genetics and Molecular Biology · Immunology and Microbiology · Medicine · #Blood disorders and treatments #Immunodeficiency and Autoimmune Disorders #Neonatal Health and Biochemistry
- Improving the definition of the structure of the isochromosome i(7)(q10) in Shwachman‐Diamond Syndrome
2010/05/27 by Barbara Pressato, Cristina Marletta, Giuseppe Montalbano +2 · 1 citation
Biochemistry, Genetics and Molecular Biology · Immunology and Microbiology · Medicine · #Blood disorders and treatments #Immunodeficiency and Autoimmune Disorders #Pneumocystis jirovecii pneumonia detection and treatment
- Shwachman‐Diamond syndrome with clonal interstitial deletion of the long arm of chromosome 20 in bone marrow: haematological features, prognosis and genomic instability
2018/12/26 by Roberto Valli, Antonella Minelli, Marta Galbiati +16 · 16 citations
Biochemistry, Genetics and Molecular Biology · Immunology and Microbiology · Medicine · #Blood disorders and treatments #Immunodeficiency and Autoimmune Disorders #Pneumocystis jirovecii pneumonia detection and treatment
- Ataluren improves myelopoiesis and neutrophil chemotaxis by restoring ribosome biogenesis and reducing p53 levels in Shwachman–Diamond syndrome cells
2023/10/24 by Marco Cipolli, Christian Boni, Marianna Penzo +25 · 9 citations
Biochemistry, Genetics and Molecular Biology · Immunology and Microbiology · Medicine · #Blood disorders and treatments #Immunodeficiency and Autoimmune Disorders #Pneumocystis jirovecii pneumonia detection and treatment