Bunyan DJ - Search Results

1

Comparison of mutation profiles in the Duchenne muscular dystrophy gene among populations: implications for potential molecular therapies.

López-Hernández LB, Gómez-Díaz B, Luna-Angulo AB, Anaya-Segura M, Bunyan DJ, Zúñiga-Guzman C, Escobar-Cedillo RE, Roque-Ramírez B, Ruano-Calderón LA, Rangel-Villalobos H, López-Hernández JA, Estrada-Mena FJ, García S, Coral-Vázquez RM. López-Hernández LB, et al. Among authors: bunyan dj. Int J Mol Sci. 2015 Mar 9;16(3):5334-46. doi: 10.3390/ijms16035334. Int J Mol Sci. 2015. PMID: 25761239 Free PMC article.

2

Simultaneous MLPA-based multiplex point mutation and deletion analysis of the dystrophin gene.

Bunyan DJ, Skinner AC, Ashton EJ, Sillibourne J, Brown T, Collins AL, Cross NC, Harvey JF, Robinson DO. Bunyan DJ, et al. Mol Biotechnol. 2007 Feb;35(2):135-40. doi: 10.1007/BF02686108. Mol Biotechnol. 2007. PMID: 17435279

3

Germline and somatic mosaicism in a female carrier of Duchenne muscular dystrophy.

Bunyan DJ, Robinson DO, Collins AL, Cockwell AE, Bullman HM, Whittaker PA. Bunyan DJ, et al. Hum Genet. 1994 May;93(5):541-4. doi: 10.1007/BF00202820. Hum Genet. 1994. PMID: 8168831

4

Mutation spectrum of dystrophin gene in malaysian patients with Duchenne/Becker muscular dystrophy.

Rani AQ, Sasongko TH, Sulong S, Bunyan D, Salmi AR, Zilfalil BA, Matsuo M, Zabidi-Hussin ZA. Rani AQ, et al. J Neurogenet. 2013 Jun;27(1-2):11-5. doi: 10.3109/01677063.2012.762580. Epub 2013 Feb 26. J Neurogenet. 2013. PMID: 23438214

5

A small intraexonic deletion within the dystrophin gene suggests a possible mechanism of mutagenesis.

Robinson DO, Bunyan DJ, Gabb HA, Temple IK, Yau SC. Robinson DO, et al. Among authors: bunyan dj. Hum Genet. 1997 May;99(5):658-62. doi: 10.1007/s004390050424. Hum Genet. 1997. PMID: 9150736

6

Fluorescence in situ hybridisation studies provide evidence for somatic mosaicism in de novo dystrophin gene deletions.

Bunyan DJ, Crolla JA, Collins AL, Robinson DO. Bunyan DJ, et al. Hum Genet. 1995 Jan;95(1):43-5. doi: 10.1007/BF00225072. Hum Genet. 1995. PMID: 7814024

7

An intronic polymorphic deletion in the PTEN gene: implications for molecular diagnostic testing.

Sandell S, Schuit RJ, Bunyan DJ. Sandell S, et al. Among authors: bunyan dj. Br J Cancer. 2013 Feb 5;108(2):438-41. doi: 10.1038/bjc.2012.562. Epub 2013 Jan 8. Br J Cancer. 2013. PMID: 23299532 Free PMC article.

8

Multiple de novo mutations in the MECP2 gene.

Bunyan DJ, Robinson DO. Bunyan DJ, et al. Genet Test. 2008 Sep;12(3):373-5. doi: 10.1089/gte.2008.0012. Genet Test. 2008. PMID: 18652533

9

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.

10

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

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