Article thumbnail

Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation

By Tracy Tucker, Alexandre Montpetit, David Chai, Susanna Chan, Sébastien Chénier, Bradley P Coe, Allen Delaney, Patrice Eydoux, Wan L Lam, Sylvie Langlois, Emmanuelle Lemyre, Marco Marra, Hong Qian, Guy A Rouleau, David Vincent, Jacques L Michaud and Jan M Friedman
Topics: Research Article
Publisher: BioMed Central
OAI identifier:
Provided by: PubMed Central

To submit an update or takedown request for this paper, please submit an Update/Correction/Removal Request.

Suggested articles


  1. (2007). A new look towards BAC-based array CGH through a comprehensive comparison with oligo-based array CGH. BMC Genomics
  2. (2002). A novel atypical 22q11.2 distal deletion in father and son.
  3. (2006). Aberrant intestinal expression and allelic variants of mucin genes associated with inflammatory bowel disease.
  4. (2009). al: 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.
  5. (2006). al: Global variation in copy number in the human genome. Nature
  6. (2007). al: Guidelines for molecular karyotyping in constitutional genetic diagnosis.
  7. (2006). al: Interstitial 2.2 Mb deletion at 9q34 in a patient with mental retardation but without classical features of the 9q subtelomeric deletion syndrome.
  8. (2008). al: The diploid genome sequence of an Asian individual. Nature
  9. (2007). al: The diploid genome sequence of an individual human. PLoS Biol
  10. (2007). AM: Array-based comparative genomic hybridization: clinical contexts for targeted and whole-genome designs. Genet Med
  11. (2005). American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation. Genet Med
  12. (2007). BC: The identification of microdeletion syndromes and other chromosome abnormalities: cytogenetic methods of the past, new technologies for the future.
  13. (2007). Brothman AR: Copy number variations and clinical cytogenetic diagnosis of constitutional disorders.
  14. (2008). Clinical and molecular delineation of the 17q21.31 microdeletion syndrome.
  15. (2001). Clinical studies on submicroscopic subtelomeric rearrangements: a checklist.
  16. (2007). de Vries BB: Whole-genome array comparative genome hybridization: the preferred diagnostic choice in postnatal clinical cytogenetics.
  17. (2006). et al: Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents.
  18. (2008). et al: Comparison of targeted and whole genome analysis of postnatal specimens using a commercially available array based comparative genomic hybridisation (aCGH) microarray platform.
  19. (2007). et al: Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization. Hum Mutat
  20. (2008). et al: Detection of submicroscopic constitutional chromosome aberrations in clinical diagnostics: a validation of the practical performance of different array platforms.
  21. (2009). et al: Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome.
  22. (2008). et al: Genotype-phenotype correlations in Rubinstein-Taybi syndrome.
  23. (2008). et al: Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes. Genet Med
  24. (2004). et al: Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation.
  25. (2008). et al: Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet
  26. (1999). et al: X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats.
  27. (2008). et al: X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. Nat Genet
  28. (2005). Freed CR: Characterization of the Bex gene family in humans, mice, and rats. Gene
  29. (2007). Genome-wide copy number profiling on high-density bacterial artificial chromosomes, single-nucleotide polymorphisms, and oligonucleotide microarrays: a platform comparison based on statistical power analysis.
  30. (2009). High-resolution array genomic hybridization in prenatal diagnosis. Prenat Diagn
  31. (2007). Hudgins L: Use of array-based technology in the practice of medical genetics. Genet Med
  32. (1992). Isolation of a new gene from the distal short arm of the human X chromosome that escapes X-inactivation. Hum Mol Genet
  33. (2008). Mapping and sequencing of structural variation from eight human genomes. Nature
  34. (2007). Methods and strategies for analyzing copy number variation using DNA microarrays. Nat Genet
  35. (1988). Molecular genetics of human salivary proteins and their polymorphisms. Adv Hum Genet
  36. (2007). Oligonucleotide arrays for high-resolution analysis of copy number alteration in mental retardation/multiple congenital anomalies. Genet Med
  37. (2004). RB: Spinal muscular atrophy: molecular genetics and diagnostics. Expert Rev Mol Diagn
  38. (2004). Refetoff S: A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene.
  39. (2001). RS: Myr 8, a novel unconventional myosin expressed during brain development associates with the protein phosphatase catalytic subunits 1alpha and 1gamma1.
  40. (2001). S: An overview of the MAGE gene family with the identification of all human members of the family. Cancer Res
  41. (2007). Structural variation in the human genome: the impact of copy number variants on clinical diagnosis. Genet Med
  42. (1998). Structure and expression of a novel member, FGF-16, on the fibroblast growth factor family. Biochem Biophys Res Commun
  43. (1999). Sugane K: Cloning, expression analysis, and chromosomal localization of a novel butyrophilin-like receptor.
  44. (2005). Systematic assessment of atypical deletions reveals genotype-phenotype correlation in 22q11.2.
  45. (1989). T: Molecular studies of deletions at the human steroid sulfatase locus.
  46. (2008). The complete genome of an individual by massively parallel DNA sequencing. Nature
  47. (2007). The impact of array genomic hybridization on mental retardation research: a review of current technologies and their clinical utility. Clin Genet
  48. (2007). Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation. Curr Opin Genet Dev