Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability
10.1038/ng1858
Crossref journal-article
Springer Science and Business Media LLC
Nature Genetics (297)
Bibliography

Shaw-Smith, C., Pittman, A. M., Willatt, L., Martin, H., Rickman, L., Gribble, S., Curley, R., Cumming, S., Dunn, C., Kalaitzopoulos, D., Porter, K., Prigmore, E., Krepischi-Santos, A. C. V., Varela, M. C., Koiffmann, C. P., Lees, A. J., Rosenberg, C., Firth, H. V., de Silva, R., & Carter, N. P. (2006). Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability. Nature Genetics, 38(9), 1032–1037.

Authors 20
  1. Charles Shaw-Smith (first)
  2. Alan M Pittman (additional)
  3. Lionel Willatt (additional)
  4. Howard Martin (additional)
  5. Lisa Rickman (additional)
  6. Susan Gribble (additional)
  7. Rebecca Curley (additional)
  8. Sally Cumming (additional)
  9. Carolyn Dunn (additional)
  10. Dimitrios Kalaitzopoulos (additional)
  11. Keith Porter (additional)
  12. Elena Prigmore (additional)
  13. Ana C V Krepischi-Santos (additional)
  14. Monica C Varela (additional)
  15. Celia P Koiffmann (additional)
  16. Andrew J Lees (additional)
  17. Carla Rosenberg (additional)
  18. Helen V Firth (additional)
  19. Rohan de Silva (additional)
  20. Nigel P Carter (additional)
References 29 Referenced 285
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  2. Shaw-Smith, C. et al. Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features. J. Med. Genet. 41, 241–248 (2004). (10.1136/jmg.2003.017731) / J. Med. Genet. by C Shaw-Smith (2004)
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  4. Rosenberg, C. et al. Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents. J. Med. Genet. 43, 180–186 (2006). (10.1136/jmg.2005.032268) / J. Med. Genet. by C Rosenberg (2006)
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  16. Lopes, J. et al. Homologous DNA exchanges in humans can be explained by the yeast double-strand break repair model: a study of 17p11.2 rearrangements associated with CMT1A and HNPP. Hum. Mol. Genet. 8, 2285–2292 (1999). (10.1093/hmg/8.12.2285) / Hum. Mol. Genet. by J Lopes (1999)
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  19. Visser, R. et al. Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-Mb microdeletion. Am. J. Hum. Genet. 76, 52–67 (2005). (10.1086/426950) / Am. J. Hum. Genet. by R Visser (2005)
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  23. Myers, A.J. et al. The H1c haplotype at the MAPT locus is associated with Alzheimer's disease. Hum. Mol. Genet. 14, 2399–2404 (2005). (10.1093/hmg/ddi241) / Hum. Mol. Genet. by AJ Myers (2005)
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  27. Khalifa, M.M., MacLeod, P.M. & Duncan, A.M. Additional case of de novo interstitial deletion del(17)(q21.3q23) and expansion of the phenotype. Clin. Genet. 44, 258–261 (1993). (10.1111/j.1399-0004.1993.tb03893.x) / Clin. Genet. by MM Khalifa (1993)
  28. Evans, W. et al. The tau H2 haplotype is almost exclusively Caucasian in origin. Neurosci. Lett. 369, 183–185 (2004). (10.1016/j.neulet.2004.05.119) / Neurosci. Lett. by W Evans (2004)
  29. Pittman, A.M. et al. The structure of the tau haplotype in controls and in progressive supranuclear palsy. Hum. Mol. Genet. 13, 1267–1274 (2004). (10.1093/hmg/ddh138) / Hum. Mol. Genet. by AM Pittman (2004)
Dates
Type When
Created 19 years ago (Aug. 13, 2006, 1:47 p.m.)
Deposited 2 years, 3 months ago (May 18, 2023, 6:12 p.m.)
Indexed 2 days, 20 hours ago (Sept. 3, 2025, 6:41 a.m.)
Issued 19 years ago (Aug. 13, 2006)
Published 19 years ago (Aug. 13, 2006)
Published Online 19 years ago (Aug. 13, 2006)
Published Print 19 years ago (Sept. 1, 2006)
Funders 0

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@article{Shaw_Smith_2006, title={Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability}, volume={38}, ISSN={1546-1718}, url={http://dx.doi.org/10.1038/ng1858}, DOI={10.1038/ng1858}, number={9}, journal={Nature Genetics}, publisher={Springer Science and Business Media LLC}, author={Shaw-Smith, Charles and Pittman, Alan M and Willatt, Lionel and Martin, Howard and Rickman, Lisa and Gribble, Susan and Curley, Rebecca and Cumming, Sally and Dunn, Carolyn and Kalaitzopoulos, Dimitrios and Porter, Keith and Prigmore, Elena and Krepischi-Santos, Ana C V and Varela, Monica C and Koiffmann, Celia P and Lees, Andrew J and Rosenberg, Carla and Firth, Helen V and de Silva, Rohan and Carter, Nigel P}, year={2006}, month=aug, pages={1032–1037} }