539 results on '"Milani, Donatella"'
Search Results
2. CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology
3. Deregulated expression of polycomb repressive complex 2 target genes in a NF1 patient with microdeletion generating the RNF135-SUZ12 chimeric gene
4. Pitfalls of whole exome sequencing in undefined clinical conditions with a suspected genetic etiology
5. Thyroid findings in pediatric and adult patients with PTEN hamartoma tumor syndrome: A retrospective analysis, and literature review
6. De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling
7. A unique Smith-Magenis patient with a de novo intragenic deletion on the maternally inherited overexpressed RAI1 allele
8. Dysfunction of AMPA receptor GluA3 is associated with aggressive behavior in human
9. The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experience
10. The Phenotype-Based Approach Can Solve Cold Cases: The Paradigm of Mosaic Mutations of the CREBBP Gene
11. Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene
12. Megaconial congenital muscular dystrophy due to novel CHKB variants: a case report and literature review
13. From clinical to molecular diagnosis: relevance of diagnostic strategy in two cases of branchio-oto-renal syndrome – case report
14. Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish
15. Low‐grade parental gonosomal mosaicism in CHD2 siblings with Smith–Magenis‐like syndrome.
16. Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement
17. Brief Notes on Pregnancy, Prenatal Diagnosis, and Preimplantation Procedures in NF1
18. Epidemiology of Neurofibromatosis Type 1
19. Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant
20. Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes
21. Targeted re-sequencing in malformations of cortical development: genotype-phenotype correlations
22. Comparison of first‐tier whole‐exome sequencing with a multi‐step traditional approach for diagnosing paediatric outpatients: An Italian prospective study
23. CATSHL syndrome, a new family and phenotypic expansion
24. A novel de novo DDX3X missense variant in a female with brachycephaly and intellectual disability: a case report
25. Correction to: Incidental finding of APC deletion in a child: double trouble or double chance? – a case report
26. Incidental finding of APC deletion in a child: double trouble or double chance? – a case report
27. Clinical spectrum of PTEN mutation in pediatric patients. A bicenter experience
28. Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients
29. CATSHL syndrome, a new family and phenotypic expansion.
30. Comparison of first‐tier whole‐exome sequencing with a multi‐step traditional approach for diagnosing paediatric outpatients: An Italian prospective study.
31. Short anagen hair syndrome: association with mono- and biallelic variants in WNT10A and a genetic overlap with male pattern hair loss
32. De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling
33. iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitability
34. Correction to: Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene
35. Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders
36. 16p13 microduplication without CREBBP involvement: Moving toward a phenotype delineation
37. 7p22.1 microduplication syndrome: Refinement of the critical region
38. The absence that makes the difference: choroidal abnormalities in Legius syndrome
39. Performance Metrics of the Scoring System for the Diagnosis of the Beckwith–Wiedemann Spectrum (BWSp) and Its Correlation with Cancer Development
40. Identification of an atypical microdeletion generating the RNF135-SUZ12 chimeric gene and causing a position effect in an NF1 patient with overgrowth
41. Electroclinical phenotype in Rubinstein–Taybi syndrome
42. Recommendations of the Scientific Committee of the Italian Beckwith–Wiedemann Syndrome Association on the diagnosis, management and follow-up of the syndrome
43. CUX1-related neurodevelopmental disorder: Deep insights into phenotype-genotype spectrum and underlying pathology
44. Pitfalls of whole exome sequencing in undefined clinical conditions with a suspected genetic etiology
45. Let Time Teach You: A Case Report of a Double Diagnosis of 17P Duplication and Ehlers-Danlos Syndrome
46. Modeling RTT Syndrome by iPSC-Derived Neurons from Male and Female Patients with Heterogeneously Severe Hot-Spot MECP2 Variants
47. The developmental trajectories of the behavioral phenotype and neuropsychiatric functioning in Cornelia de Lange and Rubinstein Taybi syndromes: A longitudinal study
48. Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders
49. Clinical and molecular characterization of patients affected by Beckwith‐Wiedemann spectrum conceived through assisted reproduction techniques
50. Atypical, Composite, or Blended Phenotypes: How Different Molecular Mechanisms Could Associate in Double-Diagnosed Patients
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