252 results on '"Valli, Roberto"'
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2. Pleomorphic Parotid Adenoma in a Child Affected with Cri du Chat Syndrome: Clinical, Cytogenetic, and Molecular Analysis.
3. Donor Cell Acute Myeloid Leukemia after Hematopoietic Stem Cell Transplantation for Chronic Granulomatous Disease: A Case Report and Literature Review
4. The frequent and clinically benign anomalies of chromosomes 7 and 20 in Shwachman-diamond syndrome may be subject to further clonal variations
5. Ataluren improves myelopoiesis and neutrophil chemotaxis by restoring ribosome biogenesis and reducing p53 levels in Shwachman–Diamond syndrome cells
6. The Potential Role of the T2 Ribonucleases in TME-Based Cancer Therapy
7. Occurrence of L1M Elements in Chromosomal Rearrangements Associated to Chronic Myeloid Leukemia (CML): Insights from Patient-Specific Breakpoints Characterization
8. 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
9. OTX Genes in Adult Tissues.
10. Editorial: Inherited and acquired ribosomopathies: missing puzzle pieces
11. Counteracting the Common Shwachman–Diamond Syndrome-Causing SBDS c.258+2T>C Mutation by RNA Therapeutics and Base/Prime Editing
12. Human RNASET2: A Highly Pleiotropic and Evolutionary Conserved Tumor Suppressor Gene Involved in the Control of Ovarian Cancer Pathogenesis
13. Case Report: Heterozygous Germline Variant in EIF6 Additional to Biallelic SBDS Pathogenic Variants in a Patient With Ribosomopathy Shwachman–Diamond Syndrome
14. Occurrence of L1M Elements in Chromosomal Rearrangements Associated to Chronic Myeloid Leukemia (CML): Insights from Patient-Specific Breakpoints Characterization.
15. gDNA qPCR is statistically more reliable than mRNA analysis in detecting leukemic cells to monitor CML
16. Expression of Otx Genes in Müller Cells Using an In Vitro Experimental Model of Retinal Hypoxia
17. Enhanced p53 Levels Are Involved in the Reduced Mineralization Capacity of Osteoblasts Derived from Shwachman–Diamond Syndrome Subjects
18. Soy diet induces intestinal inflammation in adult Zebrafish: Role of OTX and P53 family
19. Additional file 1 of The frequent and clinically benign anomalies of chromosomes 7 and 20 in Shwachman-diamond syndrome may be subject to further clonal variations
20. A Homozygous Contiguous Gene Deletion in Chromosome 16p13.3 Leads to Autosomal Recessive Osteopetrosis in a Jordanian Patient
21. Absence of acquired copy number neutral loss of heterozygosity (CN-LOH) of chromosome 7 in a series of 10 patients with Shwachman–Diamond syndrome
22. Soybean Meal-Dependent Intestinal Inflammation Induces Different Patterns of Bone-Loss in Adult Zebrafish Scale
23. MOESM2 of 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
24. Soy diet induces intestinal inflammation in adult Zebrafish: Role of OTX and P53 family.
25. Clonal chromosome anomalies affecting FLI1 mimic inherited thrombocytopenia of the Paris-Trousseau type
26. Deletion of chromosome 20 in bone marrow of patients with Shwachman-Diamond syndrome, loss of the EIF6 gene and benign prognosis
27. Paracrine effect of human adipose-derived stem cells on lymphatic endothelial cells
28. Chromosome Missegregation in Single Human Oocytes Is Related to the Age and Gene Expression Profile
29. Homeoprotein OTX1 and OTX2 involvement in rat myenteric neuron adaptation after DNBS-induced colitis
30. Improving the definition of the structure of the isochromosome i(7)(q10) in Shwachman-Diamond Syndrome
31. The route to development of myelodysplastic syndrome/acute myeloid leukaemia in Shwachman-Diamond syndrome: the role of ageing, karyotype instability, and acquired chromosome anomalies
32. Expression of OTX1 and OTX2 in Normal and Patho-logic Conditions of The Nasal Cavity
33. Novel evidence of karyotype instability in Shwachman Diamond Syndrome
34. Expression studies in patients with Shwachman Diamond syndrome in relation to clonal chromosome anomalies in bone marrow
35. Shwachman-Diamond syndrome with clonal interstitial deletion of the long arm of chromosome 20 in bone marrow: haematological features, prognosis and genomic instability
36. Chromosome anomalies in bone marrow as primary cause of aplastic or hypoplastic conditions and peripheral cytopenia: disorders due to secondary impairment of RUNX1 and MPL genes
37. NOVEL RECURRENT CHROMOSOMAL CHANGES AND GENE EXPRESSION RELATED TO CHROMOSOME ANOMALIES
38. Chromosome anomalies in bone marrow of patients with Shwachman-Diamond syndrome as successful or unsuccessful attempts to improve ribosome biogenesis
39. Identification of OTX1 and OTX2 As Two Possible Molecular Markers for Sinonasal Carcinomas and Olfactory Neuroblastomas
40. A Cell-Autonomous Oncosuppressive Role of Human RNASET2 Affecting ECM-Mediated Oncogenic Signaling
41. Comparative genomic hybridization on microarray (a-CGH) in constitutional and acquired mosaicism may detect as low as 8% abnormal cells
42. Shwachman-Diamond syndrome with clonal interstitial deletion of the long arm of chromosome 20 in bone marrow: haematological features, prognosis and genomic instability
43. The human RNASET2 protein affects the polarization pattern of human macrophages in vitro
44. Expression studies in the bone marrow of patients with Shwachman Diamond Syndrome (SDS) and deletion of the long arm of chromosome 20 encompassing th3 EIF6 gene: relation with benign prognosis
45. Novel recurrent chromosome anomalies in Shwachman-Diamond syndrome
46. Novel recurrent chromosome anomalies in Shwachman Diamond syndrome
47. Parental Origin of the Deletion Del(20q) in Shwachman-Diamond Patients and Loss of the Paternally Derived Allele of the Imprinted L3MBTL1 Gene
48. Structural variation in SBDS gene, with loss of exon 3, in two Shwachman-Diamond patients
49. Whole exome sequencing discloses heterozygous variants in theDNAJC 21andEFL 1genes but not inSRP 54in 6 out of 16 patients with Shwachman‐Diamond Syndrome carrying biallelicSBDSmutations
50. UNCOMMON ACQUIRED CHROMOSOME ANOMALIES IN SHWACHMAN-DIAMOND SYNDROME
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