181 results on '"Dagna-Bricarelli, F."'
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2. Inclusion body myopathy, Pagetʼs disease of the bone and frontotemporal dementia: recurrence of the VCP R155H mutation in an Italian family and implications for genetic counselling
3. A novel presenilin 1 L166H mutation in a pseudo-sporadic case of early-onset Alzheimerʼs disease
4. Ataxia, ocular telangiectasia, chromosome instability, and Langerhans cell histiocytosis in a patient with an unknown breakage syndrome
5. An improved method for the detection of Down's syndrome aneuploidy in uncultured amniocytes
6. The policy of public health genomics in Italy
7. Chicken-Pox And Chromosome Aberrations
8. Effects of Adriamycin on Blastogenesis and Chromosomes of Blood Lymphocytes: 'in vitro' and 'in vivo' Studies
9. Strategie formative sui medici potenziali prescrittori per il corretto uso dei test genomici: l'esperienza italiana
10. La Genomica in Sanità Pubblica. Sintesi delle evidenze e delle conoscenze disponibili sull’utilizzo della genomica ai fini della prevenzione
11. Phenotype-genotype correlation in 7 patients with 5p/autosome translocations. Risk for carriers of translocations involving 5p
12. Building a community of rare diseases
13. La Genomica in Sanità Pubblica. Sintesi delle evidenze e delle conoscenze disponibili sull’utilizzo della genomica ai fini della prevenzione
14. La Genomica in Sanità Pubblica
15. Identificazione, mediante ARRAY-CGH, di microriarrangiamenti genomici in 215 pazienti affetti da epilessia criptogenetica
16. Recurrence of Mowat-Wilson Syndrome in siblings with a novel mutation in the ZEB2 Gene
17. Amniotic fluid contains multipotent mesenchymal stromal cells with high proliferative potential and safety features: solid perspectives for clinical application
18. Expression of GALT in two unrelated 9p- patients. Evidence for assignment of the GALT locus to the 9p21 band
19. Microarray transcript profiling distinguishes the transient from the acute forms of megakaryoblastic leukemia (M7) in Down's syndrome
20. Ricerca di raiarrangiamenti subtelomerici in 600 casi di RM e dismorfismi: clinica e caratterizzazione citogenetica
21. Annales del Génétique - The natural history of AHO/del12q37 syndrome: evidence of evolutionary aspects from prospective and retrospective studies in 2 patients for a period of 23 and 4 years
22. THE NATURAL HISTORY OF AHO/DEL2Q37 SYNDROME: EVIDENCE OF EVOLUTIONARY ASPECTS FROM PROSPECTIVE AND RETROSPECTIVE STUDIES IN 2 PATIENTS FOR A PERIOD OF 23 AND 4 YEARS
23. The policy of public health genomics in Italy
24. Plasma levels of amyloid beta 40 and 42 are independent from ApoE genotype and mental retardation in Down syndrome
25. Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia
26. Complex chromosome rearrangements. Report of three new cases
27. Increased levels of a chromosome 21-encoded tumour invasion and metastasis factor (TIAM1) mRNA in bone marrow of Down syndrome children during the acute phase of AML(M7)
28. Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy
29. Three-dimensional reconstruction of painted human interphase chromosome 21 in Down syndrome
30. Multiple minor anomalies and mental retardation in a patient with an interstitial deletion of 4p15 due to 4p/10q translocation
31. Presence of soluble amyloid b peptide precedes amyloid plaque formation in Down’s syndrome
32. Nonhomologous Robertsonian translocations (NHRTs) and uniparental disomy (UPD) risk: an Italian multicentric prenatal survey
33. FRAGILE-X SYNDROME - ROUNDER CHROMOSOMES IN ITALY
34. The Italian External Quality Assessment Scheme in Classical Cytogenetics: Four Years of Activity
35. Plasma levels of amyloid -protein 42 are increased in women with mild cognitive impairment
36. Nonhomologous Robertsonian translocations(NHRTs) and uniparental disomy(UPD) risk: an Italian multicentric prenatal survey
37. Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy
38. Cryptic 1p36.3/6q25.2 translocation in three generations ascertained through a foetus with IUGR and cerebral malformations
39. FISH characterization of two supernumerary r(1) associated with distinct clinical phenotypes
40. Fragile X founder chromosomes in Italy: A few initial events and possible explanation for their heterogeneity
41. Plasma levels of amyloid beta-protein 42 are increased in women with mild cognitive impairment.
42. A to O Bone Marrow Transplantation in Severe Aplastic Anaemia: Dynamics of Blood Group Conversion and Demonstration of Early Dyserythropoiesis in the Engrafted Marrow.
43. Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX): report of the first prenatal mutation testing.
44. Screening of genes involved in autoinflammatory syndromes with periodic or recurrent fever in a Caucasian population: What did we learn?
45. Delineation of syndrome due to partial imbalances. Trysomy 6q21- qter and monosomy 6q221-qter in two unrelated patients
46. Bone marrow transplantation for leukemia in Genova
47. Trapianto di midollo osseo nelle aplasie midollari
48. Ataxia, ocular telangiectasia, chromosome instability, and Langerhans cell histiocytosis in a patient with an unknown breakage syndrome
49. Plasma levels of amyloid β-protein 42 are increased in women with mild cognitive impairment
50. Cri du Chat Syndrome
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