Eyre HJ - Search Results

1

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. Among authors: eyre hj. Am J Med Genet. 2002 Feb 1;107(4):285-93. doi: 10.1002/ajmg.10159. Am J Med Genet. 2002. PMID: 11840484

2

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. 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

3

Molecular cytogenetic and clinical studies of 42 patients with marker chromosomes.

Callen DF, Eyre H, Yip MY, Freemantle J, Haan EA. Callen DF, et al. Am J Med Genet. 1992 Jul 1;43(4):709-15. doi: 10.1002/ajmg.1320430412. Am J Med Genet. 1992. PMID: 1377870

4

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. 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.

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

Frequency of truly cryptic subtelomere abnormalities--a study of 534 patients and literature review.

Yu S, Baker E, Hinton L, Eyre HJ, Waters W, Higgins S, Sutherland GR, Haan E. Yu S, et al. Among authors: eyre hj. Clin Genet. 2005 Nov;68(5):436-41. doi: 10.1111/j.1399-0004.2005.00513.x. Clin Genet. 2005. PMID: 16207211 Review.

7

The isochromosome 18p syndrome: confirmation of cytogenetic diagnosis in nine cases by in situ hybridization.

Callen DF, Freemantle CJ, Ringenbergs ML, Baker E, Eyre HJ, Romain D, Haan EA. Callen DF, et al. Among authors: eyre hj. Am J Hum Genet. 1990 Sep;47(3):493-8. Am J Hum Genet. 1990. PMID: 2393023 Free PMC article.

8

Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation.

Kalscheuer VM, Tao J, Donnelly A, Hollway G, Schwinger E, Kübart S, Menzel C, Hoeltzenbein M, Tommerup N, Eyre H, Harbord M, Haan E, Sutherland GR, Ropers HH, Gécz J. Kalscheuer VM, et al. Am J Hum Genet. 2003 Jun;72(6):1401-11. doi: 10.1086/375538. Epub 2003 May 7. Am J Hum Genet. 2003. PMID: 12736870 Free PMC 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. J Med Genet. 1999 Nov;36(11):847-53. J Med Genet. 1999. PMID: 10544230 Free PMC article.

10

A complex rearrangement involving simultaneous translocation and inversion is associated with a change in chromatin compaction.

Callen DF, Eyre H, McDonnell S, Schuffenhauer S, Bhalla K. Callen DF, et al. Chromosoma. 2002 Sep;111(3):170-5. doi: 10.1007/s00412-002-0203-7. Epub 2002 Aug 6. Chromosoma. 2002. PMID: 12355206

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