Osborne LR - Search Results

1

Rearrangements of the Williams-Beuren syndrome locus: molecular basis and implications for speech and language development.

Osborne LR, Mervis CB. Osborne LR, et al. Expert Rev Mol Med. 2007 Jun 13;9(15):1-16. doi: 10.1017/S146239940700035X. Expert Rev Mol Med. 2007. PMID: 17565757 Free PMC article. Review.

2

Severe expressive-language delay related to duplication of the Williams-Beuren locus.

Somerville MJ, Mervis CB, Young EJ, Seo EJ, del Campo M, Bamforth S, Peregrine E, Loo W, Lilley M, Pérez-Jurado LA, Morris CA, Scherer SW, Osborne LR. Somerville MJ, et al. Among authors: osborne lr. N Engl J Med. 2005 Oct 20;353(16):1694-701. doi: 10.1056/NEJMoa051962. N Engl J Med. 2005. PMID: 16236740 Free PMC article.

3

The common inversion of the Williams-Beuren syndrome region at 7q11.23 does not cause clinical symptoms.

Tam E, Young EJ, Morris CA, Marshall CR, Loo W, Scherer SW, Mervis CB, Osborne LR. Tam E, et al. Among authors: osborne lr. Am J Med Genet A. 2008 Jul 15;146A(14):1797-806. doi: 10.1002/ajmg.a.32360. Am J Med Genet A. 2008. PMID: 18553513 Free PMC article.

4

Symmetrical Dose-Dependent DNA-Methylation Profiles in Children with Deletion or Duplication of 7q11.23.

Strong E, Butcher DT, Singhania R, Mervis CB, Morris CA, De Carvalho D, Weksberg R, Osborne LR. Strong E, et al. Among authors: osborne lr. Am J Hum Genet. 2015 Aug 6;97(2):216-27. doi: 10.1016/j.ajhg.2015.05.019. Epub 2015 Jul 9. Am J Hum Genet. 2015. PMID: 26166478 Free PMC article.

5

7q11.23 deletion and duplication.

Osborne LR, Mervis CB. Osborne LR, et al. Curr Opin Genet Dev. 2021 Jun;68:41-48. doi: 10.1016/j.gde.2021.01.013. Epub 2021 Feb 17. Curr Opin Genet Dev. 2021. PMID: 33610060 Review.

6

Williams syndrome.

Kozel BA, Barak B, Kim CA, Mervis CB, Osborne LR, Porter M, Pober BR. Kozel BA, et al. Among authors: osborne lr. Nat Rev Dis Primers. 2021 Jun 17;7(1):42. doi: 10.1038/s41572-021-00276-z. Nat Rev Dis Primers. 2021. PMID: 34140529 Free PMC article. Review.

7

GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype-phenotype analysis of five families with deletions in the Williams syndrome region.

Morris CA, Mervis CB, Hobart HH, Gregg RG, Bertrand J, Ensing GJ, Sommer A, Moore CA, Hopkin RJ, Spallone PA, Keating MT, Osborne L, Kimberley KW, Stock AD. Morris CA, et al. Am J Med Genet A. 2003 Nov 15;123A(1):45-59. doi: 10.1002/ajmg.a.20496. Am J Med Genet A. 2003. PMID: 14556246

8

Duplication of GTF2I results in separation anxiety in mice and humans.

Mervis CB, Dida J, Lam E, Crawford-Zelli NA, Young EJ, Henderson DR, Onay T, Morris CA, Woodruff-Borden J, Yeomans J, Osborne LR. Mervis CB, et al. Among authors: osborne lr. Am J Hum Genet. 2012 Jun 8;90(6):1064-70. doi: 10.1016/j.ajhg.2012.04.012. Epub 2012 May 10. Am J Hum Genet. 2012. PMID: 22578324 Free PMC article.

9

Children with 7q11.23 duplication syndrome: psychological characteristics.

Mervis CB, Klein-Tasman BP, Huffman MJ, Velleman SL, Pitts CH, Henderson DR, Woodruff-Borden J, Morris CA, Osborne LR. Mervis CB, et al. Among authors: osborne lr. Am J Med Genet A. 2015 Jul;167(7):1436-50. doi: 10.1002/ajmg.a.37071. Epub 2015 Apr 21. Am J Med Genet A. 2015. PMID: 25900101 Free PMC article.

10

7q11.23 Duplication syndrome: Physical characteristics and natural history.

Morris CA, Mervis CB, Paciorkowski AP, Abdul-Rahman O, Dugan SL, Rope AF, Bader P, Hendon LG, Velleman SL, Klein-Tasman BP, Osborne LR. Morris CA, et al. Among authors: osborne lr. Am J Med Genet A. 2015 Dec;167A(12):2916-35. doi: 10.1002/ajmg.a.37340. Epub 2015 Sep 3. Am J Med Genet A. 2015. PMID: 26333794 Free PMC article.

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