Buckle VJ - Search Results

1

De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder.

Babbs C, Lloyd D, Pagnamenta AT, Twigg SR, Green J, McGowan SJ, Mirza G, Naples R, Sharma VP, Volpi EV, Buckle VJ, Wall SA, Knight SJ; International Molecular Genetic Study of Autism Consortium (IMGSAC); Parr JR, Wilkie AO. Babbs C, et al. Among authors: buckle vj. J Med Genet. 2014 Nov;51(11):737-47. doi: 10.1136/jmedgenet-2014-102582. Epub 2014 Sep 16. J Med Genet. 2014. PMID: 25228304 Free PMC article.

2

X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis.

Gibbons RJ, Suthers GK, Wilkie AO, Buckle VJ, Higgs DR. Gibbons RJ, et al. Among authors: buckle vj. Am J Hum Genet. 1992 Nov;51(5):1136-49. Am J Hum Genet. 1992. PMID: 1415255 Free PMC article.

3

Stable length polymorphism of up to 260 kb at the tip of the short arm of human chromosome 16.

Wilkie AO, Higgs DR, Rack KA, Buckle VJ, Spurr NK, Fischel-Ghodsian N, Ceccherini I, Brown WR, Harris PC. Wilkie AO, et al. Among authors: buckle vj. Cell. 1991 Feb 8;64(3):595-606. doi: 10.1016/0092-8674(91)90243-r. Cell. 1991. PMID: 1991321

4

Localisation of a dystrophin-related autosomal gene to 6q24 in man, and to mouse chromosome 10 in the region of the dystrophia muscularis (dy) locus.

Buckle VJ, Guenet JL, Simon-Chazottes D, Love DR, Davies KE. Buckle VJ, et al. Hum Genet. 1990 Aug;85(3):324-6. doi: 10.1007/BF00206755. Hum Genet. 1990. PMID: 2203673

5

Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. I. Cases due to deletions involving chromosome band 16p13.3.

Wilkie AO, Buckle VJ, Harris PC, Lamb J, Barton NJ, Reeders ST, Lindenbaum RH, Nicholls RD, Barrow M, Bethlenfalvay NC, et al. Wilkie AO, et al. Among authors: buckle vj. Am J Hum Genet. 1990 Jun;46(6):1112-26. Am J Hum Genet. 1990. PMID: 2339704 Free PMC article.

6

Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. II. Cases without detectable abnormality of the alpha globin complex.

Wilkie AO, Zeitlin HC, Lindenbaum RH, Buckle VJ, Fischel-Ghodsian N, Chui DH, Gardner-Medwin D, MacGillivray MH, Weatherall DJ, Higgs DR. Wilkie AO, et al. Among authors: buckle vj. Am J Hum Genet. 1990 Jun;46(6):1127-40. Am J Hum Genet. 1990. PMID: 2339705 Free PMC article.

7

Alpha-thalassemia caused by a large (62 kb) deletion upstream of the human alpha globin gene cluster.

Hatton CS, Wilkie AO, Drysdale HC, Wood WG, Vickers MA, Sharpe J, Ayyub H, Pretorius IM, Buckle VJ, Higgs DR. Hatton CS, et al. Among authors: buckle vj. Blood. 1990 Jul 1;76(1):221-7. Blood. 1990. PMID: 2364173 Free article.

8

Detection of breakpoints in submicroscopic chromosomal translocation, illustrating an important mechanism for genetic disease.

Lamb J, Wilkie AO, Harris PC, Buckle VJ, Lindenbaum RH, Barton NJ, Reeders ST, Weatherall DJ, Higgs DR. Lamb J, et al. Among authors: buckle vj. Lancet. 1989 Oct 7;2(8667):819-24. doi: 10.1016/s0140-6736(89)92995-4. Lancet. 1989. PMID: 2477654

9

Localisation of human alpha globin to 16p13.3----pter.

Buckle VJ, Higgs DR, Wilkie AO, Super M, Weatherall DJ. Buckle VJ, et al. J Med Genet. 1988 Dec;25(12):847-9. doi: 10.1136/jmg.25.12.847. J Med Genet. 1988. PMID: 3236367 Free PMC article.

10

The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation.

Flint J, Wilkie AO, Buckle VJ, Winter RM, Holland AJ, McDermid HE. Flint J, et al. Among authors: buckle vj. Nat Genet. 1995 Feb;9(2):132-40. doi: 10.1038/ng0295-132. Nat Genet. 1995. PMID: 7719339

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