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Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features.
Shaw-Smith C, Redon R, Rickman L, Rio M, Willatt L, Fiegler H, Firth H, Sanlaville D, Winter R, Colleaux L, Bobrow M, Carter NP. Shaw-Smith C, et al. Among authors: fiegler h. J Med Genet. 2004 Apr;41(4):241-8. doi: 10.1136/jmg.2003.017731. J Med Genet. 2004. PMID: 15060094 Free PMC article.
Tiling path resolution mapping of constitutional 1p36 deletions by array-CGH: contiguous gene deletion or "deletion with positional effect" syndrome?
Redon R, Rio M, Gregory SG, Cooper RA, Fiegler H, Sanlaville D, Banerjee R, Scott C, Carr P, Langford C, Cormier-Daire V, Munnich A, Carter NP, Colleaux L. Redon R, et al. Among authors: fiegler h. J Med Genet. 2005 Feb;42(2):166-71. doi: 10.1136/jmg.2004.023861. J Med Genet. 2005. PMID: 15689456 Free PMC article. No abstract available.
Prenatal diagnosis by array-CGH.
Rickman L, Fiegler H, Carter NP, Bobrow M. Rickman L, et al. Among authors: fiegler h. Eur J Med Genet. 2005 Jul-Sep;48(3):232-40. doi: 10.1016/j.ejmg.2005.03.003. Eur J Med Genet. 2005. PMID: 16179219 Review.
Prenatal detection of unbalanced chromosomal rearrangements by array CGH.
Rickman L, Fiegler H, Shaw-Smith C, Nash R, Cirigliano V, Voglino G, Ng BL, Scott C, Whittaker J, Adinolfi M, Carter NP, Bobrow M. Rickman L, et al. Among authors: fiegler h. J Med Genet. 2006 Apr;43(4):353-61. doi: 10.1136/jmg.2005.037648. Epub 2005 Sep 30. J Med Genet. 2006. PMID: 16199537 Free PMC article.
Genomic array technology.
Fiegler H, Carter NP. Fiegler H, et al. Methods Cell Biol. 2004;75:769-85. doi: 10.1016/s0091-679x(04)75033-5. Methods Cell Biol. 2004. PMID: 15603452 No abstract available.
The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes.
Gribble SM, Prigmore E, Burford DC, Porter KM, Ng BL, Douglas EJ, Fiegler H, Carr P, Kalaitzopoulos D, Clegg S, Sandstrom R, Temple IK, Youings SA, Thomas NS, Dennis NR, Jacobs PA, Crolla JA, Carter NP. Gribble SM, et al. Among authors: fiegler h. J Med Genet. 2005 Jan;42(1):8-16. doi: 10.1136/jmg.2004.024141. J Med Genet. 2005. PMID: 15635069 Free PMC article.
62 results