Array-Based Comparative Genomic Hybridization for the Genomewide Detection of Submicroscopic Chromosomal Abnormalities

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Items 101–200 of 468

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8. Microarray Analysis of Cell-Free Fetal DNA in Amniotic Fluid: a Prenatal Molecular Karyotype
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12. Novel chromosomal imbalances in mantle cell lymphoma detected by genome-wide array-based comparative genomic hybridization
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13. The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype
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14. Submicroscopic subtelomeric aberrations in Chinese patients with unexplained developmental delay/mental retardation
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15. Human molecular cytogenetics: from cells to nucleotides
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16. Array Comparative Genomic Hybridization in Prenatal Diagnosis: Another Experience
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17. Chromosome imbalances in syndromic hearing loss
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18. Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome
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19. Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice
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20. Diagnostic utility of array‐based comparative genomic hybridization in a clinical setting
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21. Whole Genome Scanning: Resolving Clinical Diagnosis and Management Amidst Complex Data
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22. Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities
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23. SNP array mapping of chromosome 20p deletions: Genotypes, phenotypes, and copy number variation
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25. Genomic microarrays: a technology overview
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26. Analytical and clinical validity of whole‐genome oligonucleotide array comparative genomic hybridization for pediatric patients with mental retardation and developmental delay
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27. Detection of a novel familial deletion of four genes between BP1 and BP2 of the Prader-Willi/Angelman syndrome critical region by oligo-array CGH in a child with neurological disorder and speech impairment
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28. BAC array CGH reveals genomic aberrations in idiopathic mental retardation
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30. Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14
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31. Small regions of overlapping deletions on 6q26 in human astrocytic tumours identified using chromosome 6 tile path array-CGH
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32. X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation
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33. Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism
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34. Will the new cytogenetics replace the old cytogenetics?
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35. Multiplex PCR/liquid chromatography assay for detection of gene rearrangements: application to RB1 gene
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36. Comparative genomic hybridization and prenatal diagnosis
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37. Traditional Prenatal Diagnosis: Past to Present
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38. Across array comparative genomic hybridization: A strategy to reduce reference channel hybridizations
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39. Segmental haplosufficiency: transmitted deletions of 2p12 include a pancreatic regeneration gene cluster and have no apparent phenotypic consequences
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40. Subtelomeric rearrangements in the mentally retarded: A comparison of detection methods
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41. A versatile statistical analysis algorithm to detect genome copy number variation
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42. X‐linked mental retardation: further lumping, splitting and emerging phenotypes
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43. Prenatal Diagnosis by Array-CGH
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44. Additional cryptic CNVs in mentally retarded patients with apparently balanced karyotypes
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45. Characterisation of dic(9;20)(p11–13;q11) in childhood B‐cell precursor acute lymphoblastic leukaemia by tiling resolution array‐based comparative genomic hybridisation reveals clustered breakpoints at 9p13.2 and 20q11.2
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46. Array comparative genomic hybridization in global developmental delay
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47. What’s new in karyotyping? The move towards array comparative genomic hybridisation (CGH)
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48. Medical genetics diagnostic evaluation of the child with global developmental delay or intellectual disability
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49. A 2.3 Mb duplication of chromosome 8q24.3 associated with severe mental retardation and epilepsy detected by standard karyotype
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50. An innocuous duplication of 11.2 Mb at 13q21 is gene poor: Sub‐bands of gene paucity and pervasive CNV characterize the chromosome anomalies
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51. Clinical application of whole-genome array CGH during prenatal diagnosis: Study of 25 selected pregnancies with abnormal ultrasound findings or apparently balanced structural aberrations
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52. High resolution profiling of X chromosomal aberrations by array comparative genomic hybridisation
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53. A novel microdeletion at chromosome 2q31.1‐31.2 in a three‐generation family presenting duplication of great toes with clinodactyly
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54. Detection of known and novel genomic rearrangements by array based comparative genomic hybridisation: deletion of ZNF533 and duplication of CHARGE syndrome genes
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55. The Genomic Basis of Disease, Mechanisms and Assays for Genomic Disorders
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56. Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation
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57. The impact of array genomic hybridization on mental retardation research: a review of current technologies and their clinical utility
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58. Diagnostic Genome Profiling
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68. Molecular Karyotyping of Human Single Sperm by Array- Comparative Genomic Hybridization
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69. Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients
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97. MLPA vs multiprobe FISH: comparison of two methods for the screening of subtelomeric rearrangements in 50 patients with idiopathic mental retardation
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