Barber JC - Search Results

1

8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families.

Barber JC, Bunyan D, Curtis M, Robinson D, Morlot S, Dermitzel A, Liehr T, Alves C, Trindade J, Paramos AI, Cooper C, Ocraft K, Taylor EJ, Maloney VK. Barber JC, et al. Mol Cytogenet. 2010 Feb 18;3:3. doi: 10.1186/1755-8166-3-3. Mol Cytogenet. 2010. PMID: 20167067 Free PMC article.

2

Duplications and copy number variants of 8p23.1 are cytogenetically indistinguishable but distinct at the molecular level.

Barber JC, Maloney V, Hollox EJ, Stuke-Sontheimer A, du Bois G, Daumiller E, Klein-Vogler U, Dufke A, Armour JA, Liehr T. Barber JC, et al. Eur J Hum Genet. 2005 Oct;13(10):1131-6. doi: 10.1038/sj.ejhg.5201475. Eur J Hum Genet. 2005. PMID: 16077733

3

8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH.

Barber JC, Maloney VK, Huang S, Bunyan DJ, Cresswell L, Kinning E, Benson A, Cheetham T, Wyllie J, Lynch SA, Zwolinski S, Prescott L, Crow Y, Morgan R, Hobson E. Barber JC, et al. Eur J Hum Genet. 2008 Jan;16(1):18-27. doi: 10.1038/sj.ejhg.5201932. Epub 2007 Oct 17. Eur J Hum Genet. 2008. PMID: 17940555

4

16p11.2-p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2.

Barber JC, Hall V, Maloney VK, Huang S, Roberts AM, Brady AF, Foulds N, Bewes B, Volleth M, Liehr T, Mehnert K, Bateman M, White H. Barber JC, et al. Eur J Hum Genet. 2013 Feb;21(2):182-9. doi: 10.1038/ejhg.2012.144. Epub 2012 Jul 25. Eur J Hum Genet. 2013. PMID: 22828807 Free PMC article.

5

8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients.

Barber JC, Rosenfeld JA, Foulds N, Laird S, Bateman MS, Thomas NS, Baker S, Maloney VK, Anilkumar A, Smith WE, Banks V, Ellingwood S, Kharbutli Y, Mehta L, Eddleman KA, Marble M, Zambrano R, Crolla JA, Lamb AN. Barber JC, et al. Am J Med Genet A. 2013 Mar;161A(3):487-500. doi: 10.1002/ajmg.a.35767. Epub 2013 Jan 23. Am J Med Genet A. 2013. PMID: 23345203

6

Deletions of 2q14 that include the homeobox engrailed 1 (EN1) transcription factor are compatible with a normal phenotype.

Barber JC, Maloney VK, Bewes B, Wakeling E. Barber JC, et al. Eur J Hum Genet. 2006 Jun;14(6):739-43. doi: 10.1038/sj.ejhg.5201605. Eur J Hum Genet. 2006. PMID: 16552425

7

Transmitted duplication of 12q21.32-12q22 includes 48 genes and has no apparent phenotypic consequences.

Barber JC, Maloney VK, Kirchhoff M, Thomas NS, Boyle TA, Castle B. Barber JC, et al. Am J Med Genet A. 2007 Mar 15;143A(6):615-8. doi: 10.1002/ajmg.a.31614. Am J Med Genet A. 2007. PMID: 17318843 No abstract available.

8

Transmitted duplication of 8p23.1-8p23.2 associated with speech delay, autism and learning difficulties.

Glancy M, Barnicoat A, Vijeratnam R, de Souza S, Gilmore J, Huang S, Maloney VK, Thomas NS, Bunyan DJ, Jackson A, Barber JC. Glancy M, et al. Among authors: barber jc. Eur J Hum Genet. 2009 Jan;17(1):37-43. doi: 10.1038/ejhg.2008.133. Epub 2008 Aug 20. Eur J Hum Genet. 2009. PMID: 18716609 Free PMC article.

9

Inverted duplication of 1q32.1 to 1q44 characterized by array CGH and review of distal 1q partial trisomy.

Balasubramanian M, Barber JC, Collinson MN, Huang S, Maloney VK, Bunyan D, Foulds N. Balasubramanian M, et al. Among authors: barber jc. Am J Med Genet A. 2009 Feb 15;149A(4):793-7. doi: 10.1002/ajmg.a.32463. Am J Med Genet A. 2009. PMID: 19248177 Review. No abstract available.

10

Incomplete penetrance, variable expressivity, or dosage insensitivity in four families with directly transmitted unbalanced chromosome abnormalities.

Bateman MS, Collinson MN, Bunyan DJ, Collins AL, Duncan P, Firth R, Harrison V, Homfray T, Huang S, Kirk B, Lachlan KL, Maloney VK, Barber JCK. Bateman MS, et al. Among authors: barber jck. Am J Med Genet A. 2018 Feb;176(2):319-329. doi: 10.1002/ajmg.a.38564. Epub 2017 Dec 1. Am J Med Genet A. 2018. PMID: 29194955

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