Karmiloff-Smith A - Search Results

1

Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes.

Tassabehji M, Metcalfe K, Karmiloff-Smith A, Carette MJ, Grant J, Dennis N, Reardon W, Splitt M, Read AP, Donnai D. Tassabehji M, et al. Am J Hum Genet. 1999 Jan;64(1):118-25. doi: 10.1086/302214. Am J Hum Genet. 1999. PMID: 9915950 Free PMC article.

2

Williams syndrome: from genotype through to the cognitive phenotype.

Donnai D, Karmiloff-Smith A. Donnai D, et al. Am J Med Genet. 2000 Summer;97(2):164-71. doi: 10.1002/1096-8628(200022)97:2<164::aid-ajmg8>3.0.co;2-f. Am J Med Genet. 2000. PMID: 11180224 Review.

3

GTF2IRD1 in craniofacial development of humans and mice.

Tassabehji M, Hammond P, Karmiloff-Smith A, Thompson P, Thorgeirsson SS, Durkin ME, Popescu NC, Hutton T, Metcalfe K, Rucka A, Stewart H, Read AP, Maconochie M, Donnai D. Tassabehji M, et al. Science. 2005 Nov 18;310(5751):1184-7. doi: 10.1126/science.1116142. Epub 2005 Nov 3. Science. 2005. PMID: 16293761

4

Discriminating power of localized three-dimensional facial morphology.

Hammond P, Hutton TJ, Allanson JE, Buxton B, Campbell LE, Clayton-Smith J, Donnai D, Karmiloff-Smith A, Metcalfe K, Murphy KC, Patton M, Pober B, Prescott K, Scambler P, Shaw A, Smith AC, Stevens AF, Temple IK, Hennekam R, Tassabehji M. Hammond P, et al. Am J Hum Genet. 2005 Dec;77(6):999-1010. doi: 10.1086/498396. Epub 2005 Oct 26. Am J Hum Genet. 2005. PMID: 16380911 Free PMC article.

5

Using case study comparisons to explore genotype-phenotype correlations in Williams-Beuren syndrome.

Karmiloff-Smith A, Grant J, Ewing S, Carette MJ, Metcalfe K, Donnai D, Read AP, Tassabehji M. Karmiloff-Smith A, et al. J Med Genet. 2003 Feb;40(2):136-40. doi: 10.1136/jmg.40.2.136. J Med Genet. 2003. PMID: 12566524 Free PMC article. No abstract available.

6

In-depth analysis of spatial cognition in Williams syndrome: A critical assessment of the role of the LIMK1 gene.

Gray V, Karmiloff-Smith A, Funnell E, Tassabehji M. Gray V, et al. Neuropsychologia. 2006;44(5):679-85. doi: 10.1016/j.neuropsychologia.2005.08.007. Epub 2005 Oct 10. Neuropsychologia. 2006. PMID: 16216290

7

Inefficient search of large-scale space in Williams syndrome: further insights on the role of LIMK1 deletion in deficits of spatial cognition.

Smith AD, Gilchrist ID, Hood B, Tassabehji M, Karmiloff-Smith A. Smith AD, et al. Perception. 2009;38(5):694-701. doi: 10.1068/p6050. Perception. 2009. PMID: 19662944

8

Genetic contributions to visuospatial cognition in Williams syndrome: insights from two contrasting partial deletion patients.

Broadbent H, Farran EK, Chin E, Metcalfe K, Tassabehji M, Turnpenny P, Sansbury F, Meaburn E, Karmiloff-Smith A. Broadbent H, et al. J Neurodev Disord. 2014;6(1):18. doi: 10.1186/1866-1955-6-18. Epub 2014 Jul 15. J Neurodev Disord. 2014. PMID: 25057328 Free PMC article.

9

Learning to read in Williams syndrome: looking beneath the surface of atypical reading development.

Laing E, Hulme C, Grant J, Karmiloff-Smith A. Laing E, et al. J Child Psychol Psychiatry. 2001 Sep;42(6):729-39. doi: 10.1111/1469-7610.00769. J Child Psychol Psychiatry. 2001. PMID: 11583245

10

A study of relative clauses in Williams syndrome.

Grant J, Valian V, Karmiloff-Smith A. Grant J, et al. J Child Lang. 2002 May;29(2):403-16. doi: 10.1017/s030500090200510x. J Child Lang. 2002. PMID: 12109378

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