Bunyan DJ - Search Results

1

Correction: 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):1129. doi: 10.1038/s41436-020-0789-2. Genet Med. 2020. PMID: 32235935 Free PMC article.

2

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

3

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.

4

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

5

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

6

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

7

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.

8

Clinical and molecular characterization of duplications encompassing the human SHOX gene reveal a variable effect on stature.

Thomas NS, Harvey JF, Bunyan DJ, Rankin J, Grigelioniene G, Bruno DL, Tan TY, Tomkins S, Hastings R. Thomas NS, et al. Among authors: bunyan dj. Am J Med Genet A. 2009 Jul;149A(7):1407-14. doi: 10.1002/ajmg.a.32914. Am J Med Genet A. 2009. PMID: 19533800

9

Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia.

Connell F, Kalidas K, Ostergaard P, Brice G, Homfray T, Roberts L, Bunyan DJ, Mitton S, Mansour S, Mortimer P, Jeffery S; Lymphoedema Consortium. Connell F, et al. Among authors: bunyan dj. Hum Genet. 2010 Feb;127(2):231-41. doi: 10.1007/s00439-009-0766-y. Epub 2009 Nov 13. Hum Genet. 2010. PMID: 19911200

10

Pancreatic hypoplasia presenting with neonatal diabetes mellitus in association with congenital heart defect and developmental delay.

Balasubramanian M, Shield JP, Acerini CL, Walker J, Ellard S, Marchand M, Polak M, Vaxillaire M, Crolla JA, Bunyan DJ, Mackay DJ, Temple IK. Balasubramanian M, et al. Among authors: bunyan dj. Am J Med Genet A. 2010 Feb;152A(2):340-6. doi: 10.1002/ajmg.a.33194. Am J Med Genet A. 2010. PMID: 20082465

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