Bain SM - Search Results

1

Gene expression analysis in absence epilepsy using a monozygotic twin design.

Helbig I, Matigian NA, Vadlamudi L, Lawrence KM, Bayly MA, Bain SM, Diyagama D, Scheffer IE, Mulley JC, Holloway AJ, Dibbens LM, Berkovic SF, Hayward NK. Helbig I, et al. Among authors: bain sm. Epilepsia. 2008 Sep;49(9):1546-54. doi: 10.1111/j.1528-1167.2008.01630.x. Epub 2008 Apr 24. Epilepsia. 2008. PMID: 18435749 Free article.

2

Familial neonatal seizures with intellectual disability caused by a microduplication of chromosome 2q24.3.

Heron SE, Scheffer IE, Grinton BE, Eyre H, Oliver KL, Bain S, Berkovic SF, Mulley JC. Heron SE, et al. Epilepsia. 2010 Sep;51(9):1865-9. doi: 10.1111/j.1528-1167.2010.02558.x. Epilepsia. 2010. PMID: 20384724 Free article.

3

Epilepsy with cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH.

Nicholl J, Waters W, Suwalski S, Brown S, Hull Y, Harbord MG, Entwistle J, Thompson S, Clark D, Pridmore C, Haan E, Barnett C, McGregor L, Liebelt J, Thompson EM, Friend K, Bain SM, Yu S, Mulley JC. Nicholl J, et al. Among authors: bain sm. Am J Med Genet B Neuropsychiatr Genet. 2013 Jan;162B(1):24-35. doi: 10.1002/ajmg.b.32114. Epub 2012 Nov 26. Am J Med Genet B Neuropsychiatr Genet. 2013. PMID: 23184456

4

Linkage between the fragile X and F9, DXS52 (St14), DXS98 (4D-8) and DXS105 (cX55.7).

Mulley J, Turner G, Bain S, Sutherland GR. Mulley J, et al. Am J Med Genet. 1988 May-Jun;30(1-2):567-80. doi: 10.1002/ajmg.1320300158. Am J Med Genet. 1988. PMID: 2902797

5

Cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH.

Nicholl J, Waters W, Mulley JC, Suwalski S, Brown S, Hull Y, Barnett C, Haan E, Thompson EM, Liebelt J, Mcgregor L, Harbord MG, Entwistle J, Munt C, White D, Chitti A, Baulderstone D, Ketteridge D; Array Referral Consortium; Friend K, Bain SM, Yu S. Nicholl J, et al. Among authors: bain sm. Pathology. 2014 Jan;46(1):41-5. doi: 10.1097/PAT.0000000000000043. Pathology. 2014. PMID: 24300712

6

Chromosome microarray proficiency testing and analysis of quality metric data trends through an external quality assessment program for Australasian laboratories.

Wright DC, Adayapalam N, Bain N, Bain SM, Brown A, Buzzacott N, Carey L, Cross J, Dun K, Joy C, McCarthy C, Moore S, Murch AR, O'Malley F, Parker E, Watt J, Wilkin H, Fagan K, Pertile MD, Peters GB. Wright DC, et al. Among authors: bain sm. Pathology. 2016 Oct;48(6):586-96. doi: 10.1016/j.pathol.2016.05.009. Epub 2016 Aug 26. Pathology. 2016. PMID: 27575971

7

Familial 22q11.2 duplication: a three-generation family with a 3-Mb duplication and a familial 1.5-Mb duplication.

Yu S, Cox K, Friend K, Smith S, Buchheim R, Bain S, Liebelt J, Thompson E, Bratkovic D. Yu S, et al. Clin Genet. 2008 Feb;73(2):160-4. doi: 10.1111/j.1399-0004.2007.00938.x. Epub 2007 Dec 12. Clin Genet. 2008. PMID: 18076674

8

Unstable Robertsonian translocations der(13;15)(q10;q10): heritable chromosome fission without phenotypic effect in two kindreds.

Perry J, White SM, Nouri S, Bain SM, Hutchinson RG, La P, Northrop E, Eyre HJ, Pertile MD, Hocking TA, Thompson EM, Yu S, Choo KH, Slater HR. Perry J, et al. Among authors: bain sm. Am J Med Genet A. 2005 Jul 1;136(1):25-30. doi: 10.1002/ajmg.a.30763. Am J Med Genet A. 2005. PMID: 15889410

9

High resolution characterization of an interstitial deletion of less than 1.9 Mb at 4p16.3 associated with Wolf-Hirschhorn syndrome.

Fang YY, Bain S, Haan EA, Eyre HJ, MacDonald M, Wright TJ, Altherr MR, Riess O, Sutherland G, Callen DF. Fang YY, et al. Am J Med Genet. 1997 Sep 5;71(4):453-7. Am J Med Genet. 1997. PMID: 9286454

10

Inherited balanced translocation t(9;17)(q33.2;q25.3) concomitant with a 16p13.1 duplication in a patient with schizophrenia.

Fullston T, Gabb B, Callen D, Ullmann R, Woollatt E, Bain S, Ropers HH, Cooper M, Chandler D, Carter K, Jablensky A, Kalaydjieva L, Gecz J. Fullston T, et al. Am J Med Genet B Neuropsychiatr Genet. 2011 Mar;156(2):204-14. doi: 10.1002/ajmg.b.31157. Epub 2011 Jan 13. Am J Med Genet B Neuropsychiatr Genet. 2011. PMID: 21302349

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