183 results on '"Guerneri, Silvana"'
Search Results
2. Incidental finding of APC deletion in a child: double trouble or double chance? – a case report
3. Expression of C19MC miRNAs in HCC associates with stem-cell features and the cancer-testis genes signature
4. Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4
5. Positive predictive values and outcomes for uninformative cell‐free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study)
6. STAR syndrome plus: The first description of a female patient with the lethal form
7. Family history is key to the interpretation of exome sequencing in the prenatal context: Unexpected diagnosis of Basal Cell Nevus Syndrome
8. La diagnosi prenatale della sindrome di Klinefelter
9. Discordant Prenatal Phenotype and Karyotype of Monozygotic Twins Characterized by the Unequal Distribution of Two Cell Lines Investigated by Different Methods: A Review
10. Molecular cytogenetic characterization of a 2q35-q37 duplication and a 4q35.1-q35.2 deletion in two cousins: A genotype–phenotype analysis
11. Positive Predictive Values and Outcomes for Uninformative Cell-Free DNA Tests: An Italian Multicentric Cytogenetic and Cytogenomic Audit of DiagnOstic Testing (ICARO Study).
12. The Core Stem Genes SOX2, POU5F1/OCT4, and NANOG Are Expressed in Human Parathyroid Tumors and Modulated by MEN1, YAP1, and β-catenin Pathways Activation
13. Yes associated protein 1 (YAP1) expression and modulation by calcium sensing receptor activation in human parathyroid tumors
14. Yes-Associated Protein 1 Is a Novel Calcium Sensing Receptor Target in Human Parathyroid Tumors
15. Authorʼs reply regarding “Confined placental mosaicism at chorionic villous sampling: risk factors and pregnancy outcome”
16. Cytogenetic mapping of a novel locus for type II Waardenburg syndrome
17. Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation
18. Confined placental mosaicism at chorionic villous sampling: risk factors and pregnancy outcome
19. Cytogenetic study in primary myelofibrosis at diagnosis: Clinical and histological association and impact on survival according to WHO 2017 classification in an Italian multicenter series
20. Autism spectrum disorder and intellectual disability in an inherited 2q14.3 micro‐deletion involving CNTNAP5
21. The OncosuppressorsMEN1andCDC73Are Involved in lncRNA Deregulation in Human Parathyroid Tumors
22. De novo balanced chromosome rearrangements in prenatal diagnosis
23. Expanding the phenotype of 22q13.3 deletion: report of a case detected prenatally
24. 13q Deletion and central nervous system anomalies: further insights from karyotype–phenotype analyses of 14 patients
25. Limited value of echography to predict true fetal mosaicism for trisomy 12
26. Small supernumerary marker chromosomes:A legacy of trisomy rescue?
27. Menin and EZH2 activities modulate the expression of the long non-coding RNA HAR1B in parathyroid tumors
28. Tetrasomy 18p: The challenges of noninvasive prenatal testing and combined test
29. Cytogenetic study in primary myelofibrosis at diagnosis: Clinical and histological association and impact on survival according to WHO 2017 classification in an Italian multicenter series.
30. The Oncosuppressors MEN1 and CDC73 Are Involved in lncRNA Deregulation in Human Parathyroid Tumors.
31. Small supernumerary marker chromosomes: A legacy of trisomy rescue?
32. Abstract 3732: Insights into the non-coding genome of parathyroid tumors
33. LncRNAs profiling reveals epigenetic heterogeneity among human parathyroid tumor
34. Sequence variants identification at the KCNQ1OT1:TSS differentially Methylated region in isolated omphalocele cases
35. Mass spectrometry-based assay for the molecular diagnosis of glioma: concomitant detection of chromosome 1p/19q codeletion, and IDH1, IDH2, and TERT mutation status
36. Familial Duplication/Deletion of 1q42.13q43 as Meiotic Consequence of an Intrachromosomal Insertion in Chromosome 1
37. Tetrasomy 18p: The challenges of noninvasive prenatal testing and combined test.
38. Small supernumerary marker chromosomes: A legacy of trisomy rescue?
39. Insights into 6q21-q22: Refinement of the critical region for acro-cardio-facial syndrome
40. MGMT-Methylated Alleles Are Distributed Heterogeneously Within Glioma Samples Irrespective ofIDHStatus and Chromosome 10q Deletion
41. First trimester fetal karyotyping: one thousand diagnoses
42. Familial Duplication/Deletion of 1q42.13q43 as Meiotic Consequence of an Intrachromosomal Insertion in Chromosome 1.
43. Beckwith–Wiedemann syndrome prenatal diagnosis by methylation analysis in chorionic villi
44. HOXA genes cluster: clinical implications of the smallest deletion
45. Comprehensive Molecular Analyses in a Case of Masked Philadelphia Chronic Myeloid Leukemia
46. Delineating the Mosaic Trisomy 15 Phenotype Using a Serendipitous Mechanism as a Clue
47. A Genotype First Approach in Currarino Syndrome
48. Design and validation of a pericentromeric BAC clone set aimed at improving diagnosis and phenotype prediction of supernumerary marker chromosomes
49. MGMT-Methylated Alleles Are Distributed Heterogeneously Within Glioma Samples Irrespective of IDH Status and Chromosome 10q Deletion.
50. Comprehensive Molecular Analyses in a Case of Masked Philadelphia Chronic Myeloid Leukemia.
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