47 results on '"Russo, Silvia"'
Search Results
2. But aren’t all soaps metal soaps? A review of applications, physico-chemical properties of metal soaps and their occurrence in cultural heritage studies
3. Beneficial effects of SS-31 peptide on cardiac mitochondrial dysfunction in tafazzin knockdown mice
4. First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders
5. Masculinity, Perceived Vulnerability to COVID-19, and Adoption of Protective Behaviors
6. Congenital hypothyroidism after newborn screening program reorganization in the Apulia region
7. A unique Smith-Magenis patient with a de novo intragenic deletion on the maternally inherited overexpressed RAI1 allele
8. Germline variants in genes of the subcortical maternal complex and Multilocus Imprinting Disturbance are associated with miscarriage/infertility or Beckwith–Wiedemann progeny
9. Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences
10. Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance
11. Transcriptome Analysis of iPSC-Derived Neurons from Rubinstein-Taybi Patients Reveals Deficits in Neuronal Differentiation
12. The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenotype
13. A KHDC3L mutation resulting in recurrent hydatidiform mole causes genome-wide DNA methylation loss in oocytes and persistent imprinting defects post-fertilisation
14. Infrahumanization and Socio-Structural Variables: The Role of Legitimacy, Ingroup Identification, and System Justification Beliefs
15. Rare variants in the neuronal ceroid lipofuscinosis gene MFSD8 are candidate risk factors for frontotemporal dementia
16. Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement
17. Diagnosis and management of Silver–Russell syndrome: first international consensus statement
18. EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver–Russell and Beckwith–Wiedemann syndrome
19. Erratum to: A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver–Russell and Beckwith–Wiedemann syndromes
20. Stability and Change in Youths’ Political Interest
21. A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver–Russell and Beckwith–Wiedemann syndromes
22. Functional characterization of CDK5 and CDK5R1 mutations identified in patients with non-syndromic intellectual disability
23. Prenatal molecular testing for Beckwith–Wiedemann and Silver–Russell syndromes: a challenge for molecular analysis and genetic counseling
24. Basic Personal Values, the Country’s Crime Rate and the Fear of Crime
25. Constitutional de novo deletion of the FBXW7 gene in a patient with focal segmental glomerulosclerosis and multiple primitive tumors
26. (Epi)genotype–phenotype correlations in Beckwith–Wiedemann syndrome
27. Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome
28. Development and Validation of a Democratic System Justification Scale
29. Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome
30. The Role of Legitimizing Ideologies as Predictors of Ambivalent Sexism in Young People: Evidence from Italy and the USA
31. Criminal Victimization and Crime Risk Perception: A Multilevel Longitudinal Study
32. Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients
33. Juxtaposition of heterochromatic and euchromatic regions by chromosomal translocation mediates a heterochromatic long-range position effect associated with a severe neurological phenotype
34. Nephrological findings and genotype–phenotype correlation in Beckwith–Wiedemann syndrome
35. Genetic investigations on 8 patients affected by ring 20 chromosome syndrome
36. Premature chromatid separation is not a useful diagnostic marker for Cornelia de Lange syndrome
37. Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith–Wiedemann syndrome
38. Evaluation of autism traits in Angelman syndrome: a resource to unfold autism genes
39. Prenatal/neonatal pathology in two cases of Cornelia de Lange syndrome harboring novel mutations of NIPBL
40. X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations
41. Mutations and novel polymorphisms in coding regions and UTRs of CDK5R1 and OMG genes in patients with non-syndromic mental retardation
42. Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy
43. Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes
44. BHV-1: New Molecular Approaches to Control a Common and Widespread Infection
45. Search for mutations in pancreatic sufficient cystic fibrosis Italian patients: detection of 90% of molecular defects and identification of three novel mutations
46. Frequency of the ΔF508 mutation in a sample of 175 Italian cystic fibrosis patients
47. Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement
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