571 results on '"Riccio, Andrea"'
Search Results
2. Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis
3. Beckwith-Wiedemann syndrome and twinning: case report and brief review of literature
4. Imprinting disorders
5. A novel missense variant in CDK5RAP2 associated with non-obstructive azoospermia
6. The mismatch-repair proteins MSH2 and MSH6 interact with the imprinting control regions through the ZFP57-KAP1 complex
7. Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences
8. First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders
9. Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith–Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances
10. A novel iPSC-based model of ICF syndrome subtype 2 recapitulates the molecular phenotype of ZBTB24 deficiency.
11. Understanding the Variability of 22q11.2 Deletion Syndrome: The Role of Epigenetic Factors
12. A maternal-effectPadi6variant causes nuclear and cytoplasmic abnormalities in oocytes, as well as failure of epigenetic reprogramming and zygotic genome activation in embryos
13. Current trends and future prospects of drug repositioning in gastrointestinal oncology
14. A paternally inherited 1.4 kb deletion of the 11p15.5 imprinting center 2 is associated with a mild familial Silver–Russell syndrome phenotype
15. ICF1-Syndrome-Associated DNMT3B Mutations Prevent De Novo Methylation at a Subset of Imprinted Loci during iPSC Reprogramming
16. A maternal-effect Padi6 variant results in abnormal nuclear localization of DNMT1 and failure of epigenetic reprogramming and zygotic genome activation in mouse embryos
17. Zfp57 inactivation illustrates the role of ICR methylation in imprinted gene expression during neural differentiation of mouse ESCs
18. Co-occurrence of Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type 1B: coincidence or common molecular mechanism?
19. Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith–Wiedemann locus
20. Genomic imprinting disorders: lessons on how genome, epigenome and environment interact
21. A maternal-effect Padi6variant causes nuclear and cytoplasmic abnormalities in oocytes, as well as failure of epigenetic reprogramming and zygotic genome activation in embryos
22. Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance
23. A KHDC3L mutation resulting in recurrent hydatidiform mole causes genome-wide DNA methylation loss in oocytes and persistent imprinting defects post-fertilisation
24. The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenotype
25. Wnt/β-catenin signaling pathway safeguards epigenetic stability and homeostasis of mouse embryonic stem cells
26. Beckwith-Wiedemann Syndrome
27. Materials of Erasmus+ TrainRDM Open Science Training Week in Bucharest
28. Co-Occurrence of Beckwith–Wiedemann Syndrome and Early-Onset Colorectal Cancer
29. Performance Metrics of the Scoring System for the Diagnosis of the Beckwith–Wiedemann Spectrum (BWSp) and Its Correlation with Cancer Development
30. Cancer Risk in Beckwith-Wiedemann Syndrome: A Systematic Review and Meta-Analysis Outlining a Novel (Epi)Genotype Specific Histotype Targeted Screening Protocol
31. Recommendations of the Scientific Committee of the Italian Beckwith–Wiedemann Syndrome Association on the diagnosis, management and follow-up of the syndrome
32. Humanized H19/Igf2 locus reveals diverged imprinting mechanism between mouse and human and reflects Silver–Russell syndrome phenotypes
33. A novel missense variant in CDK5RAP2associated with non-obstructive azoospermia
34. Different Mechanisms Cause Hypomethylation of Both H19 and KCNQ1OT1 Imprinted Differentially Methylated Regions in Two Cases of Silver–Russell Syndrome Spectrum
35. Materials of Erasmus+ TrainRDM Open Science 'Early stage Researchers' Training Week
36. Clinical and molecular characterization of patients affected by Beckwith‐Wiedemann spectrum conceived through assisted reproduction techniques
37. Is ZFP57 binding to H19/IGF2:IG-DMR affected in Silver-Russell syndrome?
38. Materials of Erasmus+ TrainRDM Open Science training week
39. Additional file 4 of Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith–Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances
40. Additional file 2 of The mismatch-repair proteins MSH2 and MSH6 interact with the imprinting control regions through the ZFP57-KAP1 complex
41. Additional file 1 of Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith–Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances
42. Additional file 2 of Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith–Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances
43. A splicing mutation of the HMGA2 gene is associated with Silver–Russell syndrome phenotype
44. Epigenetic Alterations in Inborn Errors of Immunity
45. Soft skills assessment guidelines
46. The H19 Locus Acts in vivo as a Tumor Suppressor
47. Statuette
48. Satyr with Inkstand and Candlestick
49. Pomona
50. Lamp
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