192 results on '"Valetto, Angelo"'
Search Results
2. The genetic framework of primary ciliary dyskinesia assessed by soft computing analysis
3. Distinct Immunophenotypic Features in Patients Affected by 22q11.2 Deletion Syndrome with Immune Dysregulation and Infectious Phenotype
4. The best evidence for progressive myoclonic epilepsy: A pathway to precision therapy
5. Case report: Familial case with autism spectrum and bipolar disorder showing a 20q11.21 microduplication including TM9SF4
6. In Tandem Intragenic Duplication of Doublesex and Mab-3-Related Transcription Factor 1 (DMRT1) in an SRY-Negative Boy with a 46,XX Disorder of Sex Development
7. Sorafenib Induced Complete Cytogenetic and Molecular Response in a Chronic Eosinophilic Leukemia Case with t(12;13) Translocation
8. Chromosomal alterations in sporadic medullary thyroid carcinoma and correlation with outcome
9. A novel genetic variant in DNAI2 detected by custom gene panel in a newborn with Primary Ciliary Dyskinesia: case report
10. Focal cortical dysplasia, microcephaly and epilepsy in a boy with 1q21.1-q21.3 duplication
11. Impact of TAS2R38 polymorphisms on nasal nitric oxide and Pseudomonasinfections in primary ciliary dyskinesia: relation to genotype
12. A 17q duplication prenatally detected
13. Positive predictive values and outcomes for uninformative cell‐free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study)
14. Phenotypic Spectrum of NFIA Haploinsufficiency: Two Additional Cases and Review of the Literature
15. The prognostic role of chromosomal gains and loss in sporadic medullary thyroid carcinoma
16. Next generation sequencing technologies for a successful diagnosis in a cold case of Leigh syndrome
17. 625 kb microduplication at Xp22.12 including RPS6KA3 in a child with mild intellectual disability
18. Maternally derived 15q11.2-q13.1 duplication in a child with Lennox–Gastaut-type epilepsy and dysmorphic features: Clinical-genetic characterization of the family and review of the literature
19. 3p26.3 terminal deletions: a challenge for prenatal genetic counseling
20. A 6.5 mb deletion at 3q24q25.2 narrows Wisconsin syndrome critical region to a 750 kb interval: A potential role for MBNLI
21. Long-term growth hormone treatment in a boy with 45,X/46,X,idic(Yp) mixed gonadal dysgenesis: comparison with growth pattern of an untreated patient
22. Molecular cytogenetic characterization of an interstitial deletion of chromosome 21 (21q22.13q22.3) in a patient with dysmorphic features, intellectual disability and severe generalized epilepsy
23. Enhancing DLG2 Implications in Neuropsychiatric Disorders: Analysis of a Cohort of Eight Patients with 11q14.1 Imbalances
24. Clinical, Immunological, and Genetic Findings in a Cohort of Patients with the DiGeorge Phenotype without 22q11.2 Deletion
25. Expanding Phenotype of Poirier–Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients
26. Intragenic Duplication of DMRT1 in a SRY-Negative Boy with 46,XX Disorder of Sex Development
27. Additional file 1 of A novel genetic variant in DNAI2 detected by custom gene panel in a newborn with Primary Ciliary Dyskinesia: case report
28. Similarities and Differences Between the Light and Heavy Chain Ig Variable Region Gene Repertoires in Chronic Lymphocytic Leukemia
29. Advantages of Array Comparative Genomic Hybridization Using Buccal Swab DNA for Detecting Pallister-Killian Syndrome
30. A 47,XX,+der(21)t(8;21)(q24.2;q21.1) karyotype in a patient with mild intellectual disability, cleft lip, hashimoto thyroiditis and hirsutism
31. Positive Predictive Values and Outcomes for Uninformative Cell-Free DNA Tests: An Italian Multicentric Cytogenetic and Cytogenomic Audit of DiagnOstic Testing (ICARO Study)
32. Acro-cardio-facial syndrome: A microdeletion syndrome?
33. Molecular cytogenetic characterization of a new case of partial trisomy 13 (13q11q13.2)
34. An unusual pattern of B-cell immunological reconstitution after allogeneic stem cell transplantation: A possible correlation with CMV reactivation?
35. Molecular cytogenetic characterization of a de novo mosaic supernumerary ring chromosome 7: Report of a new patient
36. Isolated 6q Terminal Deletions:: An Emerging New Syndrome
37. A prenatal case with multiple supernumerary markers identified as derivatives of chromosomes 13, 15, and 20: molecular cytogenetic characterization and review of the literature.
38. Remarkably similar antigen receptors among a subset of patients with chronic lymphocytic leukemia
39. Additional file 1: of Next generation sequencing technologies for a successful diagnosis in a cold case of Leigh syndrome
40. A prenatal case with multiple supernumerary markers identified as derivatives of chromosomes 13, 15, and 20: molecular cytogenetic characterization and review of the literature
41. Familial Interstitial 6q23.2 Deletion Including Eya4 Associated With Otofaciocervical Syndrome
42. Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome: New Report with a 197-kb Deletion Upstream of FOXL2 and Review of the Literature
43. Insertional translocation involving an additional nonchromothriptic chromosome in constitutional chromothripsis: Rule or exception?
44. The Polycomb BMI1 Protein Is Co-expressed With CD26+ in Leukemic Stem Cells of Chronic Myeloid Leukemia
45. Chronic Lymphocytic Leukemia B Cells Express Restricted Sets of Mutated and Unmutated Antigen Receptors
46. B-cell chronic lymphocytic leukemia cells express a surface membrane phenotype of activated, antigen-experienced B lymphocytes: Presented in part at the 42nd Annual Meeting of the American Society of Hematology, December 1-5, 2000, San Francisco, CA.
47. Novel Familial Variant of the Desert Hedgehog Gene: Clinical Findings in Two Sisters with 46,XY Gonadal Dysgenesis or 46,XX Karyotype and Literature Review
48. Ig V Gene Mutation Status and CD38 Expression As Novel Prognostic Indicators in Chronic Lymphocytic Leukemia
49. Benign infantile seizures followed by autistic regression in a boy with 16p11.2 deletion
50. Deletion Extents Are Not the Cause of Clinical Variability in 22q11.2 Deletion Syndrome: Does the Interaction between DGCR8 and miRNA-CNVs Play a Major Role?
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