DOI: 10.1007/s10038-004-0145-4. The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt the A2BP1 gene

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

10.1007/s10038-004-0145-4

Crossref journal-article

Springer Science and Business Media LLC

Journal of Human Genetics (297)

Bibliography

Bhalla, K., Phillips, H. A., Crawford, J., McKenzie, O. L. D., Mulley, J. C., Eyre, H., Gardner, A. E., Kremmidiotis, G., & Callen, D. F. (2004). The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt the A2BP1 gene. Journal of Human Genetics, 49(6), 308â311.

Authors 9

Kavita Bhalla (first)
Hilary A. Phillips (additional)
Joanna Crawford (additional)
Olivia L. D. McKenzie (additional)
John C. Mulley (additional)
Helen Eyre (additional)
Alison E. Gardner (additional)
Gabriel Kremmidiotis (additional)
David F. Callen (additional)

References 6 Referenced 128

Callen DF, Baker E, Eyre HJ, Chernos JE, Bell JA, Sutherland GR (1990) Reassessment of two apparent deletions of chromosome 16p to an ins(11;16) and a t(1;16) by chromosome painting. Ann Genet 33:219–221 / Ann Genet by Callen (1990)
Callen DF, Lane SA, Kozman H, Kremmidiotis G, Whitmore SA, Lowenstein M, Doggett NA, Kenmochi N, Page DC, Maglott DR et al (1995) Integration of transcript and genetic maps of chromosome 16 at near-1-Mb resolution: demonstration of a “hot spot” for recombination at 16p12. Genomics 29:503–511 (10.1006/geno.1995.9005) / Genomics by Callen (1995)
Callen DF, Eyre H, McDonnell S, Schuffenhauer S, Bhalla K (2002) A complex rearrangement involving simultaneous translocation and inversion is associated with a change in chromatin compaction. Chromosoma 111:170–175 (10.1007/s00412-002-0203-7) / Chromosoma by Callen (2002)
Kiehl TR, Shibata H, Vo T, Huynh DP, Pulst SM (2001) Identification and expression of a mouse ortholog of A2BP1. Mamm Genome 12:595–601 (10.1007/s00335-001-2056-4) / Mamm Genome by Kiehl (2001)
Shibata H, Huynh DP, Pulst SM (2000) A novel protein with RNA-binding motifs interacts with ataxin-2. Hum Mol Genet 9:1303–1313 (10.1093/hmg/9.9.1303) / Hum Mol Genet by Shibata (2000)
Warburton D (1991) De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. Am J Hum Genet 49:995–1013 / Am J Hum Genet by Warburton (1991)

Dates

Type	When
Created	21 years, 3 months ago (May 17, 2004, 3:55 a.m.)
Deposited	3 years, 8 months ago (Dec. 1, 2021, 2:33 p.m.)
Indexed	2 months ago (June 23, 2025, 3:41 p.m.)
Issued	21 years, 3 months ago (May 18, 2004)
Published	21 years, 3 months ago (May 18, 2004)
Published Online	21 years, 3 months ago (May 18, 2004)
Published Print	21 years, 2 months ago (June 1, 2004)

Funders 0

None

BibTeX

@article{Bhalla_2004, title={The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt the A2BP1 gene}, volume={49}, ISSN={1435-232X}, url={http://dx.doi.org/10.1007/s10038-004-0145-4}, DOI={10.1007/s10038-004-0145-4}, number={6}, journal={Journal of Human Genetics}, publisher={Springer Science and Business Media LLC}, author={Bhalla, Kavita and Phillips, Hilary A. and Crawford, Joanna and McKenzie, Olivia L. D. and Mulley, John C. and Eyre, Helen and Gardner, Alison E. and Kremmidiotis, Gabriel and Callen, David F.}, year={2004}, month=may, pages={308–311} }

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