252 results on '"Vianna-Morgante, Angela M"'
Search Results
2. Phenotypic and mutational spectrum of ROR2‐related Robinow syndrome
3. Skewed X-chromosome Inactivation in Women with Idiopathic Intellectual Disability is Indicative of Pathogenic Variants
4. Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil
5. DNA methylation fingerprint of monozygotic twins and their singleton sibling with intellectual disability carrying a novel KDM5C mutation
6. Efficient detection of chromosome imbalances and single nucleotide variants using targeted sequencing in the clinical setting
7. Regulatory variants of FOXG1 in the context of its topological domain organisation
8. Skewed X-chromosome inactivation in women with idiopathic intellectual disability as indicative of pathogenic variants
9. Back Cover, Volume 43, Issue 7
10. Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders
11. Chromosomal microarray analyses from 5,778 patients with neurodevelopmental disorders and congenital anomalies in Brazil
12. FMR1 premutation in children with autism spectrum disorders: Should additional diagnostic tests be performed?
13. Copy Number Alterations in Hepatoblastoma: Literature Review and a Brazilian Cohort Analysis Highlight New Biological Pathways
14. Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses
15. UBE2A, which encodes an ubiquitin-conjugating enzyme, is mutated in novel x-linked mental retardation syndrome
16. Conservation of Chromosomal Location of Nucleolus Organizer in American Marsupials (Didelphidae)
17. Developmental changes in the ploidy of mouse implanting trophoblast cells in vitro
18. Replication timing of homologous α-satellite DNA in Roberts syndrome
19. Comparative Genome Analysis in American Marsupials: Chromosome Banding and In-situ Hybridization
20. Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver–Russell syndrome
21. Detection of mosaicism for segmental and whole chromosome imbalances by targeted sequencing
22. A novel de novo microdeletion spanning the SYNGAP1 gene on the short arm of chromosome 6 associated with mental retardation
23. Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching
24. Telomeric sequences localization and G-banding patterns in the identification of a polymorphic chromosomal rearrangement in the rodent Akodon cursor (2n = 14,15 and 16)
25. A PCR-based test suitable for screening for fragile X syndrome among mentally retarded males
26. The ratio of maternal to paternal UPD associated with recessive diseases
27. Brachymesomelic dysplasia with Peters anomaly of the eye results from disruptions of the X chromosome near the SHOX and SOX3 genes
28. An 11q11–q13.3 duplication, including FGF3 and FGF4 genes, in a patient with syndromic multiple craniosynostoses
29. Chromosome abnormalities in two patients with features of autosomal dominant Robinow syndrome
30. Array CGH Identifies Reciprocal 16p13.1 Duplications and Deletions That Predispose to Autism and/or Mental Retardation
31. Fragile X-associated tremor/ataxia syndrome: Intrafamilial variability and the size of the FMR1 premutation CGG repeat
32. Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome
33. An Xq22.3 Duplication Detected by Comparative Genomic Hybridization Microarray (Array-CGH) Defines a New Locus (FGS5) for FG Syndrome
34. Structure and chromosomal localization of the gene for crotamine, a toxin from the South American rattlesnake, Crotalus durissus terrificus
35. Chromosome painting in three-toed sloths: a cytogenetic signature and ancestral karyotype for Xenarthra
36. Expansions and contractions of the FMR1 CGG repeat in 5,508 transmissions of normal, intermediate, and premutation alleles
37. Telomeric sequences localization and G-banding patterns in the identification of a polymorphic chromosomal rearrangement in the rodent Akodoncursor (2n = 14, 15 and 16)
38. FRAXF in a patient with chromosome 8 duplication
39. Detection of mosaicism for segmental and whole chromosome imbalances by targeted sequencing.
40. NGS mapped breakpoints in balanced chromosomal rearrangements including the first large cohort of healthy carriers
41. A novel complex neurological phenotype due to a homozygous mutation in FDX2
42. Insight into the mechanisms and consequences of recurrent telomere capture associated with a sub-telomeric deletion
43. KIF11 microdeletion is associated with microcephaly, chorioretinopathy and intellectual disability
44. WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome
45. Regulatory variants of FOXG1 in the context of its topological domain organisation
46. Mining Novel Candidate Imprinted Genes Using Genome-Wide Methylation Screening and Literature Review
47. Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair
48. Inherited Xq13.2-q21.31 duplication in a boy with recurrent seizures and pubertal gynecomastia: Clinical, chromosomal and aCGH characterization
49. The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation
50. The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.