1,275 results on '"Zuffardi, Orsetta"'
Search Results
2. Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3
3. SCN2A and arrhythmia: A potential correlation? A case report and literature review
4. Low-level complex mosaic with multiple cell lines affecting the 18q21.31q21.32 region in a patient with de novo 18q terminal deletion
5. The embryo battle against adverse genomes: Are de novo terminal deletions the rescue of unfavorable zygotic imbalances?
6. Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes
7. Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study
8. Boundaries and precision medicine in consanguineous migrant couples Genetic counseling after the identification of fetal pathologies
9. Low penetrance COL5A1 variants in a young patient with intracranial aneurysm and very mild signs of Ehlers-Danlos syndrome
10. Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes
11. Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological finding
12. Characterization of a novel loss-of-function variant in TDP2 in two adult patients with spinocerebellar ataxia autosomal recessive 23 (SCAR23)
13. Alazami syndrome: the first case of papillary thyroid carcinoma
14. Transcutaneous electrical stimulation therapy and genetic analysis in Dercumʼs disease: A pilot study
15. Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes
16. Case Report: Decrypting an interchromosomal insertion associated with Marfan’s syndrome: how optical genome mapping emphasizes the morbid burden of copy-neutral variants
17. Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature
18. Case Report: Sequential postzygotic HRAS mutation and gains of the paternal chromosome 11 carrying the mutated allele in a patient with epidermal nevus and rhabdomyosarcoma: evidence of a multiple-hit mechanism involving HRAS in oncogenic transformation
19. SOX2: Not always eye malformations. Severe genital but no major ocular anomalies in a female patient with the recurrent c.70del20 variant
20. De novo unbalanced translocations have a complex history/aetiology
21. Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts
22. Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage
23. Common Long Human Inversion Polymorphism on Chromosome 8p
24. Whole exome sequencing in the differential diagnosis of Diamond-Blackfan anemia: Clinical and molecular study of three patients with novel RPL5 and mosaic RPS19 mutations
25. Targeted next-generation sequencing identifies the disruption of the SHANK3 and RYR2 genes in a patient carrying a de novo t(1;22)(q43;q13.3) associated with signs of Phelan-McDermid syndrome
26. A novel de novo partial xq duplication in a girl with short stature, nonverbal learning disability and diminished ovarian reserve - effect of growth hormone treatment and fertility preservation strategies: a case report and up-to-date review
27. Prenatal Clinical Findings in RASA1-Related Capillary Malformation-Arteriovenous Malformation Syndrome
28. Next Generation Sequencing for Systematic Assessment of Genetics of Small-Vessel Disease and Lacunar Stroke
29. Developmental trends of communicative skills in children with chromosome 14 aberrations
30. Non-Invasive Detection of a De Novo Frameshift Variant of STAG2 in a Female Fetus: Escape Genes Influence the Manifestation of X-Linked Diseases in Females
31. Three Reportedly Unrelated Families With Liddle Syndrome Inherited From a Common Ancestor
32. Inversion Chromosomes
33. Genomic alterations in human umbilical cord–derived mesenchymal stromal cells call for stringent quality control before any possible therapeutic approach
34. Seamless Gene Correction in the Human Cystic Fibrosis Transmembrane Conductance Regulator Locus by Vector Replacement and Vector Insertion Events
35. Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1
36. Spleen endothelial cells from patients with myelofibrosis harbor the JAK2V617F mutation
37. SMARCA4 inactivating mutations cause concomitant Coffin–Siris syndrome, microphthalmia and small‐cell carcinoma of the ovary hypercalcaemic type
38. Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan–Herndon–Dudley Syndrome
39. Inv Dup Del (8p)
40. APC rearrangements in familial adenomatous polyposis: heterogeneity of deletion lengths and breakpoint sequences underlies similar phenotypes
41. Wolfram syndrome 2: a novel CISD2 mutation identified in Italian siblings
42. TREX1 C-terminal frameshift mutations in the systemic variant of retinal vasculopathy with cerebral leukodystrophy
43. Interstitial deletion of chromosome 2p15-16.1: Report of two patients and critical review of current genotype–phenotype correlation
44. Unexpected results in the constitution of small supernumerary marker chromosomes
45. Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve Split-Hand/Foot Malformation type 3
46. Low-Level Complex Mosaic with Multiple Cell Lines Affecting the 18q21.31q21.32 Region in a Patient with De Novo 18q Terminal Deletion
47. SCN2A and Arrhythmia: A Potential Correlation? A Case Report and Literature Review
48. Seamless Gene Correction in the Human Cystic Fibrosis Transmembrane Conductance Regulator Locus by Vector Replacement and Vector Insertion Events
49. A wide methodological approach to identify a large duplication in CFTR gene in a CF patient uncharacterised by sequencing analysis
50. Correlation between genomic alterations assessed by array comparative genomic hybridization, prognostically informative histologic subtype, stage, and patient survival in gastric cancer
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