Eyre H - Search Results

1

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. Among authors: eyre h. Epilepsia. 2010 Sep;51(9):1865-9. doi: 10.1111/j.1528-1167.2010.02558.x. Epilepsia. 2010. PMID: 20384724 Free article.

2

Detection of microchromosomal aberrations in refractory epilepsy: a pilot study.

McMahon JM, Scheffer IE, Nicholl JK, Waters W, Eyre H, Hinton L, Nelson P, Yu S, Dibbens LM, Berkovic SF, Mulley JC. McMahon JM, et al. Among authors: eyre h. Epileptic Disord. 2010 Sep;12(3):192-8. doi: 10.1684/epd.2010.0326. Epub 2010 Jul 19. Epileptic Disord. 2010. PMID: 20643615 Free article.

3

The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt the A2BP1 gene.

Bhalla K, Phillips HA, Crawford J, McKenzie OLD, Mulley JC, Eyre H, Gardner AE, Kremmidiotis G, Callen DF. Bhalla K, et al. Among authors: eyre h. J Hum Genet. 2004;49(6):308-311. doi: 10.1007/s10038-004-0145-4. Epub 2004 May 18. J Hum Genet. 2004. PMID: 15148587

4

Characterization of the human glutamate receptor subunit 3 gene (GRIA3), a candidate for bipolar disorder and nonspecific X-linked mental retardation.

Gécz J, Barnett S, Liu J, Hollway G, Donnelly A, Eyre H, Eshkevari HS, Baltazar R, Grunn A, Nagaraja R, Gilliam C, Peltonen L, Sutherland GR, Baron M, Mulley JC. Gécz J, et al. Among authors: eyre h. Genomics. 1999 Dec 15;62(3):356-68. doi: 10.1006/geno.1999.6032. Genomics. 1999. PMID: 10644433

5

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. Among authors: eyre hj. Am J Med Genet. 1997 Sep 5;71(4):453-7. Am J Med Genet. 1997. PMID: 9286454

6

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: eyre hj. 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

7

Study of 250 children with idiopathic mental retardation reveals nine cryptic and diverse subtelomeric chromosome anomalies.

Baker E, Hinton L, Callen DF, Altree M, Dobbie A, Eyre HJ, Sutherland GR, Thompson E, Thompson P, Woollatt E, Haan E. Baker E, et al. Am J Med Genet. 2002 Feb 1;107(4):285-93. doi: 10.1002/ajmg.10159. Am J Med Genet. 2002. PMID: 11840484

8

Cloning and characterization of the human activity-dependent neuroprotective protein.

Zamostiano R, Pinhasov A, Gelber E, Steingart RA, Seroussi E, Giladi E, Bassan M, Wollman Y, Eyre HJ, Mulley JC, Brenneman DE, Gozes I. Zamostiano R, et al. Among authors: eyre hj. J Biol Chem. 2001 Jan 5;276(1):708-14. doi: 10.1074/jbc.M007416200. J Biol Chem. 2001. PMID: 11013255 Free article.

9

Origins of accessory small ring marker chromosomes derived from chromosome 1.

Callen DF, Eyre H, Fang YY, Guan XY, Veleba A, Martin NJ, McGill J, Haan EA. Callen DF, et al. Among authors: eyre h. J Med Genet. 1999 Nov;36(11):847-53. J Med Genet. 1999. PMID: 10544230 Free PMC article.

10

High resolution mapping of interstitial long arm deletions of chromosome 16: relationship to phenotype.

Callen DF, Eyre H, Lane S, Shen Y, Hansmann I, Spinner N, Zackai E, McDonald-McGinn D, Schuffenhauer S, Wauters J, et al. Callen DF, et al. Among authors: eyre h. J Med Genet. 1993 Oct;30(10):828-32. doi: 10.1136/jmg.30.10.828. J Med Genet. 1993. PMID: 8230159 Free PMC article.

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