Pages that link to "Q34729624"

The following pages link to Recurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISH. (Q34729624):

Displaying 17 items.

• SNP arrays: comparing diagnostic yields for four platforms in children with developmental delay (Q30566015) (← links)
• Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints (Q34460796) (← links)
• Familial imbalance in 16p13.11 leads to a dosage compensation rearrangement in an unaffected carrier (Q35379284) (← links)
• Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics (Q35679756) (← links)
• Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies (Q35679786) (← links)
• Mechanisms for Complex Chromosomal Insertions. (Q36202375) (← links)
• Next generation sequencing-based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies (Q36706648) (← links)
• Current controversies in prenatal diagnosis 3: is conventional chromosome analysis necessary in the post‐array CGH era? (Q37849711) (← links)
• Detection and interpretation of genomic structural variation in health and disease. (Q38068938) (← links)
• Pathogenic or not? Assessing the clinical relevance of copy number variants (Q38124925) (← links)
• Human Structural Variation: Mechanisms of Chromosome Rearrangements (Q38553771) (← links)
• Chromosomal Microarrays: Understanding Genetics of Neurodevelopmental Disorders and Congenital Anomalies (Q39127499) (← links)
• Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today's genomic array era? (Q50770539) (← links)
• Use of Genetic Testing for Primary Immunodeficiency Patients. (Q52575536) (← links)
• Diagnosis of familial Wolf-Hirschhorn syndrome due to a paternal cryptic chromosomal rearrangement by conventional and molecular cytogenetic techniques (Q58920516) (← links)
• Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG) (Q89144601) (← links)
• Limited diagnostic impact of duplications <1 Mb of uncertain clinical significance: a 10-year retrospective analysis of reporting practices at the Mayo Clinic (Q98611633) (← links)