592 results on '"Danesino, C."'
Search Results
2. Recommendations for pre-symptomatic genetic testing for hereditary transthyretin amyloidosis in the era of effective therapy: a multicenter Italian consensus
3. Late-onset Pompe disease: a genetic-radiological correlation on cerebral vascular anomalies
4. Mining the Plasma Proteome for Insights into the Molecular Pathology of Pulmonary Arterial Hypertension
5. Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment
6. Hepatic sonography in patients with hereditary hemorrhagic telangiectasia hospitalized for epistaxis
7. Breast cancer and genetics
8. LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population
9. Early diagnosis and early treatment in LOPD: when asymptomatic patients should be treated: EP2152
10. The isochromosome i(7)(q10) carrying c.258+2t>c mutation of the SBDS gene does not promote development of myeloid malignancies in patients with Shwachman syndrome
11. Pulmonary arteriovenous malformations: percutaneous treatment preserving parenchyma in high-flow fistulae
12. 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
13. Successful treatment of Griscelli syndrome with unrelated donor allogeneic hematopoietic stem cell transplantation
14. Meiotic origin of trisomy in neoplasms: evidence in a case of erythroleukaemia
15. Twenty-five novel mutations including duplications in the ATP7A gene
16. Duplication of the Pituitary Stalk in a Patient with a Heterozygous Deletion of Chromosome 14 Harboring the Thyroid Transcription Factor-1 Gene
17. Changes in nutritional status and body composition during enzyme replacement therapy in adult-onset type II glycogenosis
18. ENZYME REPLACEMENT THERAPY IN ADULT-ONSET GLYCOGENOSIS II: IS QUANTITATIVE MUSCLE MRI HELPFUL?
19. Enzyme replacement therapy in late-onset type II glycogenosis
20. Contrast echocardiography for pulmonary arteriovenous malformations screening: does any bubble matter?
21. Liver involvement in hereditary haemorrhagic telangiectasia or Rendu-Osler-Weber disease
22. Monosomy 7 in myeloid malignancies: parental origin and monitoring by real-time quantitative PCR
23. JAK2 V617F mutation is a rare event in juvenile myelomonocytic leukemia
24. Germline selection shapes human mitochondrial DNA diversity
25. Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis
26. Can GH induce chromosome breaks or microsatellite instability in GH-deficient children?
27. Novel Munc13–4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis
28. Shwachman-Diamond syndrome with clonal interstitial deletion of the long arm of chromosome 20 in bone marrow: haematological features, prognosis and genomic instability
29. A homozygous missense arginine to histidine substitution at position 482 of the β-galactosidase in an Italian infantile GM1-gangliosidosis patient
30. Genetic heterogeneity for a Nijmegen breakage-like syndrome
31. Identification of 13 new mutations in the ACVRL1 gene in a group of 52 unselected Italian patients affected by hereditary haemorrhagic telangiectasia
32. Corpus callosum hypoplasia and associated brain anomalies in Nijmegen breakage syndrome: Authors' reply
33. A novel mutation and novel features in Nijmegen breakage syndrome
34. Langerhans cell histiocytosis in adultsReport from the International Registry of the Histiocyte Society
35. LOCUS HETEROGENEITY IN FAMILIAL HAEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS
36. Genetic determinants of risk in pulmonary arterial hypertension: international case-control studies and meta-analysis
37. Coexistence of mitochondrial DNA and beta myosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure
38. Hereditary haemorrhagic telangiectasia with extensive liver involvement is not caused by either HHT1 or HHT2
39. Ataluren-driven restoration of Shwachman-Bodian-Diamond syndrome protein function in Shwachman-Diamond syndrome bone marrow cells
40. Gene Dosage Effect in Cells with Monosomy of Chromosome 22 Derived from Human Meningiomas
41. Gene Dosage Effect in Chorionic Villi
42. Early diagnosis and early treatmentin LOPD: when asymptomatic patients should be treated
43. E, Danesino C, Pasquali F, Nicolis E, Cesaro S, Perobelli S. The Italian SDS registry (RI-SDS): evolution form 1999.Proceedings of 8th International Congress on Shwachman-Diamond Syndrome, page 44. Verona 17-20 April 2016
44. Studio prospettico-osservazionale su sopravvivenza a lungo termine e prevalenza delle complicanze ematologiche nei pazienti italiani affetti da sindrome di Shwachman-Diamond
45. Early onset of a nasal perivascular epithelioid cell neoplasm not related to tuberous sclerosis complex
46. Nasal powders of thalidomide for local treatment of nose bleeding in persons affected by hereditary hemorrhagic telangiectasia
47. Genetic predisposition to hemophagocytic lymphohistiocytosis: Report on 500 patients from the Italian registry
48. Structural variation in SBDS gene, with loss of exon 3, in two Shwachman-Diamond patients
49. Mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia: A report from the italian AIEOP study group
50. Genetic predisposition to hemophagocytic lymphohistiocytosis: Report on 500 patients from the Italian registry
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