Robinson DO - Search Results

1

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. Among authors: robinson do. Hum Genet. 1994 May;93(5):541-4. doi: 10.1007/BF00202820. Hum Genet. 1994. PMID: 8168831

2

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. Among authors: robinson do. Hum Genet. 1995 Jan;95(1):43-5. doi: 10.1007/BF00225072. Hum Genet. 1995. PMID: 7814024

3

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. Hum Genet. 1997 May;99(5):658-62. doi: 10.1007/s004390050424. Hum Genet. 1997. PMID: 9150736

4

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. Among authors: robinson do. Mol Biotechnol. 2007 Feb;35(2):135-40. doi: 10.1007/BF02686108. Mol Biotechnol. 2007. PMID: 17435279

5

Multiple de novo mutations in the MECP2 gene.

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

6

A cytogenetic and molecular reappraisal of a series of patients with Turner's syndrome.

Jacobs PA, Betts PR, Cockwell AE, Crolla JA, Mackenzie MJ, Robinson DO, Youings SA. Jacobs PA, et al. Among authors: robinson do. Ann Hum Genet. 1990 Jul;54(3):209-23. doi: 10.1111/j.1469-1809.1990.tb00379.x. Ann Hum Genet. 1990. PMID: 2221825

7

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: robinson do. 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

8

X inactivation analysis in a female with hypomelanosis of Ito associated with a balanced X;17 translocation: evidence for functional disomy of Xp.

Hatchwell E, Robinson D, Crolla JA, Cockwell AE. Hatchwell E, et al. J Med Genet. 1996 Mar;33(3):216-20. doi: 10.1136/jmg.33.3.216. J Med Genet. 1996. PMID: 8728694 Free PMC article.

9

Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways.

Bakrania P, Efthymiou M, Klein JC, Salt A, Bunyan DJ, Wyatt A, Ponting CP, Martin A, Williams S, Lindley V, Gilmore J, Restori M, Robson AG, Neveu MM, Holder GE, Collin JR, Robinson DO, Farndon P, Johansen-Berg H, Gerrelli D, Ragge NK. Bakrania P, et al. Among authors: robinson do. Am J Hum Genet. 2008 Feb;82(2):304-19. doi: 10.1016/j.ajhg.2007.09.023. Epub 2008 Jan 31. Am J Hum Genet. 2008. PMID: 18252212 Free PMC article.

10

A novel approach for identifying candidate imprinted genes through sequence analysis of imprinted and control genes.

Ke X, Thomas NS, Robinson DO, Collins A. Ke X, et al. Among authors: robinson do. Hum Genet. 2002 Dec;111(6):511-20. doi: 10.1007/s00439-002-0822-3. Epub 2002 Sep 13. Hum Genet. 2002. PMID: 12436242

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