Bunyan DJ - Search Results

1

Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance.

Wai HA, Lord J, Lyon M, Gunning A, Kelly H, Cibin P, Seaby EG, Spiers-Fitzgerald K, Lye J, Ellard S, Thomas NS, Bunyan DJ, Douglas AGL, Baralle D; Splicing and disease working group. Wai HA, et al. Among authors: bunyan dj. Genet Med. 2020 Jun;22(6):1005-1014. doi: 10.1038/s41436-020-0766-9. Epub 2020 Mar 3. Genet Med. 2020. PMID: 32123317 Free PMC article.

2

Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification.

Bunyan DJ, Eccles DM, Sillibourne J, Wilkins E, Thomas NS, Shea-Simonds J, Duncan PJ, Curtis CE, Robinson DO, Harvey JF, Cross NC. Bunyan DJ, et al. Br J Cancer. 2004 Sep 13;91(6):1155-9. doi: 10.1038/sj.bjc.6602121. Br J Cancer. 2004. PMID: 15475941 Free PMC article.

3

Epimutation of the TNDM locus and the Beckwith-Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitus.

Mackay DJ, Hahnemann JM, Boonen SE, Poerksen S, Bunyan DJ, White HE, Durston VJ, Thomas NS, Robinson DO, Shield JP, Clayton-Smith J, Temple IK. Mackay DJ, et al. Among authors: bunyan dj. Hum Genet. 2006 Mar;119(1-2):179-84. doi: 10.1007/s00439-005-0127-4. Epub 2006 Jan 5. Hum Genet. 2006. PMID: 16402210

4

Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers.

Lachlan KL, Lucassen AM, Bunyan D, Temple IK. Lachlan KL, et al. J Med Genet. 2007 Sep;44(9):579-85. doi: 10.1136/jmg.2007.049981. Epub 2007 May 25. J Med Genet. 2007. PMID: 17526800 Free PMC article.

5

Zellweger syndrome resulting from maternal isodisomy of chromosome 1.

Turner CL, Bunyan DJ, Thomas NS, Mackay DJ, Jones HP, Waterham HR, Wanders RJ, Temple IK. Turner CL, et al. Among authors: bunyan dj. Am J Med Genet A. 2007 Sep 15;143A(18):2172-7. doi: 10.1002/ajmg.a.31912. Am J Med Genet A. 2007. PMID: 17702006

6

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. Among authors: bunyan dj. 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

7

Severe Marfan syndrome due to FBN1 exon deletions.

Blyth M, Foulds N, Turner C, Bunyan D. Blyth M, et al. Am J Med Genet A. 2008 May 15;146A(10):1320-4. doi: 10.1002/ajmg.a.32229. Am J Med Genet A. 2008. PMID: 18412115

8

Detection of 53 FBN1 mutations (41 novel and 12 recurrent) and genotype-phenotype correlations in 113 unrelated probands referred with Marfan syndrome, or a related fibrillinopathy.

Turner CL, Emery H, Collins AL, Howarth RJ, Yearwood CM, Cross E, Duncan PJ, Bunyan DJ, Harvey JF, Foulds NC. Turner CL, et al. Among authors: bunyan dj. Am J Med Genet A. 2009 Feb;149A(2):161-70. doi: 10.1002/ajmg.a.32593. Am J Med Genet A. 2009. PMID: 19161152

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. 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

Prevalence of myocilin gene mutations in a novel UK cohort of POAG patients.

Ennis S, Gibson J, Griffiths H, Bunyan D, Cree AJ, Robinson D, Self J, MacLeod A, Lotery A. Ennis S, et al. Eye (Lond). 2010 Feb;24(2):328-33. doi: 10.1038/eye.2009.73. Epub 2009 May 1. Eye (Lond). 2010. PMID: 19407846

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