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1. Endocrine Evaluation and Homeostatic Model Assessment in Patients with Cornelia de Lange Syndrome

2. An intragenic duplication in the AFF2 gene associated with Cornelia de Lange syndrome phenotype

3. Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles

4. Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X

5. PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals

6. The different clinical facets of SYN1-related neurodevelopmental disorders

7. Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood

8. Cornelia de Lange Syndrome as Paradigm of Chromatinopathies

9. MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome

10. Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes

11. Mosaic Intronic NIPBL Variant in a Family With Cornelia de Lange Syndrome

12. Regulation of the cohesin-loading factor NIPBL: Role of the lncRNA NIPBL-AS1 and identification of a distal enhancer element.

13. Cornelia de Lange syndrome and cancer: An open question

14. Endocrine Evaluation and Homeostatic Model Assessment in Patients with Cornelia de Lange Syndrome

15. Neurodevelopmental Disorders: From Genetics to Functional Pathways

16. Systematic analysis and prediction of genes associated with disorders on chromosome X

17. Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

18. Syndromic neurodevelopmental disorder associated with de novo variants in DDX23

19. Author response for 'ANKRD11 variants: KBG syndrome and beyond'

20. ANKRD11 variants: KBG syndrome and beyond

21. Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood

22. Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy

23. Author response for 'Heterozygous de novo variants in <scp> CSNK1G1 </scp> are associated with syndromic developmental delay and autism spectrum disorder'

24. Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorder

25. Front Cover

26. Heterozygous truncation mutations of theSMC1Agene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases

27. Author response for 'Chromatinopathies: a focus on Cornelia de Lange Syndrome'

28. Chromatinopathies: A focus on Cornelia de Lange syndrome

29. MAU2 and NIPBL variants in Cornelia de Lange syndrome reveal MAU2-independent loading of cohesin and uncover a protective mechanism against early truncating mutations in NIPBL

30. Expanding the clinical spectrum of the ‘HDAC8-phenotype’ - implications for molecular diagnostics, counseling and risk prediction

31. Mosaic Intronic

32. Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype

33. Phenotypes and genotypes in individuals with SMC1A variants

34. Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes

35. Molecular characterization of a mosaic NIPBL deletion in a Cornelia de Lange patient with severe phenotype

36. Functional characterisation of a novel mutation affecting the catalytic domain of MMP2 in siblings with multicentric osteolysis, nodulosis and arthropathy

37. Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome

38. Regulation of the cohesin-loading factor NIPBL: Role of the lncRNA NIPBL-AS1 and identification of a distal enhancer element

39. Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes

40. Overall and allele-specific expression of the SMC1A gene in female Cornelia de Lange syndrome patients and healthy controls

41. Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum

42. A low cost computerized system for data management in a surgical department

43. paH gradients in isoelectric focusing experiments at subzero temperatures

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