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What’s new in karyotyping? The move towards array comparative genomic hybridisation (CGH)

  • Published:2007-03-20 Issue:7 Volume:166 Page:637-643
  • ISSN:0340-6199
  • Container-title:European Journal of Pediatrics
  • language:en
  • Short-container-title:Eur J Pediatr

Author:

de Ravel Thomy J. L.,Devriendt Koen,Fryns Jean-Pierre,Vermeesch Joris R.

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology and Child Health

Reference29 articles.

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2. de Ravel TJL, Balikova I, Thienpont B, Hannes F, Maas N, Fryns J-P, Devriendt K, Vermeesch JR (2006) Molecular karyotyping of patients with MCA/MR: the blurred boundary between normal and pathogenic variation. Cytogen Genome Res 115(3–4):225–230

3. de Vries BBA, Pfundt R, Leisink M, Koolen DA, Vissers LELM, Janssen IM, van Reijmersdal S, Nillesen WM, Huys EHLPG, de Leeuw N, Smeets D, Sistermans EA, Feuth T, van Ravenswaaij-Arts CMA, van Kessel AG, Schoenmakers EFPM, Brunner HG, Veltman JA (2005) Diagnostic genome profiling in mental retardation. Am J Hum Genet 77(4):606–616

4. Friedman JM, Baross A, Delaney AD, Ally A, Arbour L, Asano J, Bailey DK, Barber S, Birch P, Brown-John M, Cao M, Chan S, Charest DL, Farnoud N, Fernandes N, Flibotte S, Go A, Gibson WT, Holt RA, Jones SJM, Kennedy GC, Krzywinski M, Langlois S, Li HI, McGillivray BC, Nayar T, Pugh TJ, Rajcan-Separovic E, Schein JE, Schnerch A, Siddiqui A, Van Allen MI, Wilson G, Yong S-L, Zahir F, Eydoux P, Marra MA (2006) Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation. Am J Hum Genet 79(3):500–513

5. Gribble SM, Prigmore E, Burford DC, Porter KM, Ng BL, Douglas EJ, Fiegler H, Carr P, Kalaitzopoulos D, Clegg S, Sandstrom R, Temple IK, Youings SA, Thomas NS, Dennis NR, Jacobs PA, Crolla JA, Carter NP (2005) The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes. J Med Genet 42(1):8–16

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