218 results on '"Bertini, Veronica"'
Search Results
2. Impact of TAS2R38 polymorphisms on nasal nitric oxide and Pseudomonas infections in primary ciliary dyskinesia: relation to genotype.
3. The genetic framework of primary ciliary dyskinesia assessed by soft computing analysis
4. Distinct Immunophenotypic Features in Patients Affected by 22q11.2 Deletion Syndrome with Immune Dysregulation and Infectious Phenotype
5. The best evidence for progressive myoclonic epilepsy: A pathway to precision therapy
6. Case report: Familial case with autism spectrum and bipolar disorder showing a 20q11.21 microduplication including TM9SF4
7. 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
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. Temperature-Sensitive Auditory Neuropathy: Report of a Novel Variant of OTOF Gene and Review of Current Literature
13. A 17q duplication prenatally detected
14. Positive predictive values and outcomes for uninformative cell‐free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study)
15. Phenotypic Spectrum of NFIA Haploinsufficiency: Two Additional Cases and Review of the Literature
16. The prognostic role of chromosomal gains and loss in sporadic medullary thyroid carcinoma
17. Next generation sequencing technologies for a successful diagnosis in a cold case of Leigh syndrome
18. 625 kb microduplication at Xp22.12 including RPS6KA3 in a child with mild intellectual disability
19. 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
20. 3p26.3 terminal deletions: a challenge for prenatal genetic counseling
21. A 6.5 mb deletion at 3q24q25.2 narrows Wisconsin syndrome critical region to a 750 kb interval: A potential role for MBNLI
22. 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
23. 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
24. Enhancing DLG2 Implications in Neuropsychiatric Disorders: Analysis of a Cohort of Eight Patients with 11q14.1 Imbalances
25. Clinical, Immunological, and Genetic Findings in a Cohort of Patients with the DiGeorge Phenotype without 22q11.2 Deletion
26. Expanding Phenotype of Poirier–Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients
27. Intragenic Duplication of DMRT1 in a SRY-Negative Boy with 46,XX Disorder of Sex Development
28. Identification of a mutant allele of the androgen receptor gene in a family with androgen insensitivity syndrome: detection of carriers and prenatal diagnosis
29. 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
30. Positive Predictive Values and Outcomes for Uninformative Cell-Free DNA Tests: An Italian Multicentric Cytogenetic and Cytogenomic Audit of DiagnOstic Testing (ICARO Study)
31. Acro-cardio-facial syndrome: A microdeletion syndrome?
32. Molecular cytogenetic characterization of a new case of partial trisomy 13 (13q11q13.2)
33. Molecular cytogenetic characterization of a de novo mosaic supernumerary ring chromosome 7: Report of a new patient
34. Isolated 6q Terminal Deletions:: An Emerging New Syndrome
35. A prenatal case with multiple supernumerary markers identified as derivatives of chromosomes 13, 15, and 20: molecular cytogenetic characterization and review of the literature.
36. Additional file 1: of Next generation sequencing technologies for a successful diagnosis in a cold case of Leigh 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. Familial Interstitial 6q23.2 Deletion Including Eya4 Associated With Otofaciocervical Syndrome
39. Advantages of Array Comparative Genomic Hybridization Using Buccal Swab DNA for Detecting Pallister-Killian Syndrome
40. Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome: New Report with a 197-kb Deletion Upstream of FOXL2 and Review of the Literature
41. A Not So Benign Family Pedigree With Hereditary Chorea: A Broader Phenotypic Expression or Additional Picture?
42. Insertional translocation involving an additional nonchromothriptic chromosome in constitutional chromothripsis: Rule or exception?
43. 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
44. Benign infantile seizures followed by autistic regression in a boy with 16p11.2 deletion
45. 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?
46. Myelodysplastic syndromes: advantages of a combined cytogenetic and molecular diagnostic workup
47. A Case of 22q11 Deletion Syndrome (22q11DS) with a Panayiotopoulos Epileptic Pattern: Are Additional Copy-Number Variations a Possible Second Hit in Modulating the 22q11DS Phenotype?
48. A 14.8 Mb 12p Deletion Disrupting ETV6 in a Patient with Myelodysplastic Syndrome
49. Maternal Uniparental Disomy 14 (Temple Syndrome) as a Result of a Robertsonian Translocation
50. MDS: An Integrated Workup for a Correct Diagnosis
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