Barber J - Search Results

1

Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation.

Giglio S, Calvari V, Gregato G, Gimelli G, Camanini S, Giorda R, Ragusa A, Guerneri S, Selicorni A, Stumm M, Tonnies H, Ventura M, Zollino M, Neri G, Barber J, Wieczorek D, Rocchi M, Zuffardi O. Giglio S, et al. Among authors: barber j. Am J Hum Genet. 2002 Aug;71(2):276-85. doi: 10.1086/341610. Epub 2002 Jun 10. Am J Hum Genet. 2002. PMID: 12058347 Free PMC article.

2

The variant inv(2)(p11.2q13) is a genuinely recurrent rearrangement but displays some breakpoint heterogeneity.

Fickelscher I, Liehr T, Watts K, Bryant V, Barber JC, Heidemann S, Siebert R, Hertz JM, Tumer Z, Simon Thomas N. Fickelscher I, et al. Am J Hum Genet. 2007 Oct;81(4):847-56. doi: 10.1086/521226. Epub 2007 Aug 28. Am J Hum Genet. 2007. PMID: 17847011 Free PMC article.

3

A study of reciprocal translocations and inversions detected by light microscopy with special reference to origin, segregation, and recurrent abnormalities.

Youings S, Ellis K, Ennis S, Barber J, Jacobs P. Youings S, et al. Among authors: barber j. Am J Med Genet A. 2004 Apr 1;126A(1):46-60. doi: 10.1002/ajmg.a.20553. Am J Med Genet A. 2004. PMID: 15039973

4

Extensive normal copy number variation of a beta-defensin antimicrobial-gene cluster.

Hollox EJ, Armour JA, Barber JC. Hollox EJ, et al. Among authors: barber jc. Am J Hum Genet. 2003 Sep;73(3):591-600. doi: 10.1086/378157. Epub 2003 Aug 12. Am J Hum Genet. 2003. PMID: 12916016 Free PMC article.

5

Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations.

Browne CE, Dennis NR, Maher E, Long FL, Nicholson JC, Sillibourne J, Barber JC. Browne CE, et al. Among authors: barber jc. Am J Hum Genet. 1997 Dec;61(6):1342-52. doi: 10.1086/301624. Am J Hum Genet. 1997. PMID: 9399882 Free PMC article.

6

Unbalanced translocation in a mother and her son in one of two 5;10 translocation families.

Barber JC, Temple IK, Campbell PL, Collinson MN, Campbell CM, Renshaw RM, Dennis NR. Barber JC, et al. Am J Med Genet. 1996 Mar 1;62(1):84-90. doi: 10.1002/(SICI)1096-8628(19960301)62:1<84::AID-AJMG17>3.0.CO;2-R. Am J Med Genet. 1996. PMID: 8779332

7

3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome.

Willatt L, Cox J, Barber J, Cabanas ED, Collins A, Donnai D, FitzPatrick DR, Maher E, Martin H, Parnau J, Pindar L, Ramsay J, Shaw-Smith C, Sistermans EA, Tettenborn M, Trump D, de Vries BB, Walker K, Raymond FL. Willatt L, et al. Among authors: barber j. Am J Hum Genet. 2005 Jul;77(1):154-60. doi: 10.1086/431653. Epub 2005 May 25. Am J Hum Genet. 2005. PMID: 15918153 Free PMC article.

8

A de novo X;13 translocation with abnormal phenotype.

Hodgson SV, Barber JC, Dowie A, Dubowitz V. Hodgson SV, et al. Among authors: barber jc. J Med Genet. 1986 Oct;23(5):477-8. doi: 10.1136/jmg.23.5.477. J Med Genet. 1986. PMID: 3783628 Free PMC article.

9

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

10

Protelomeric sequences are deleted in cases of short arm inverted duplication of chromosome 8.

Barber JC, James RS, Patch C, Temple IK. Barber JC, et al. Am J Med Genet. 1994 Apr 15;50(3):296-9. doi: 10.1002/ajmg.1320500315. Am J Med Genet. 1994. PMID: 8042676

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