Publications by authors named "David O Robinson"

28Publications

Megalencephaly syndromes: exome pipeline strategies for detecting low-level mosaic mutations.

PLoS One 2014 31;9(1):e86940. Epub 2014 Jan 31.

Department of Human Genetics and Genomic medicine, Faculty of Medicine, University of Southampton, Southampton, Hampshire, United Kingdom.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0086940PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3908952PMC
October 2014

The use of mouth brushings for screening girls who present with inguinal hernia for complete androgen insensitivity syndrome.

Eur J Pediatr Surg 2012 Apr 19;22(2):136-8. Epub 2012 Apr 19.

Department of Paediatric Surgery, Southampton General Hospital, Southampton, United Kingdom.

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http://dx.doi.org/10.1055/s-0032-1308691DOI Listing
April 2012

Molecular genetics external quality assessment pilot scheme for KRAS analysis in metastatic colorectal cancer.

Genet Test Mol Biomarkers 2011 Nov 18;15(11):777-83. Epub 2011 Aug 18.

UK NEQAS for Molecular Genetics, Institute of Human Genetics, International Centre for Life, Central Parkway, Newcastle upon Tyne, United Kingdom.

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http://www.liebertpub.com/doi/10.1089/gtmb.2010.0239
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http://dx.doi.org/10.1089/gtmb.2010.0239DOI Listing
November 2011

Two cases of oculopharyngeal muscular dystrophy (OPMD) with the rare PABPN1 c.35G>C; p.Gly12Ala point mutation.

Neuromuscul Disord 2011 Nov 13;21(11):809-11. Epub 2011 Jul 13.

Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, UK.

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https://linkinghub.elsevier.com/retrieve/pii/S09608966110017
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http://dx.doi.org/10.1016/j.nmd.2011.06.003DOI Listing
November 2011

Sonic hedgehog mutations are an uncommon cause of developmental eye anomalies.

Am J Med Genet A 2010 May;152A(5):1310-3

Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UK.

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http://dx.doi.org/10.1002/ajmg.a.33239DOI Listing
May 2010

Darier disease, multiple bone cysts, and aniridia due to double de novo heterozygous mutations in ATP2A2 and PAX6.

Am J Med Genet A 2009 Aug;149A(8):1768-72

Experimental Medicine Department, 'Sapienza-University of Rome', San Camillo-Forlanini Hospital, Italy.

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http://dx.doi.org/10.1002/ajmg.a.32960DOI Listing
August 2009

Mutations in phospholipase C epsilon 1 are not sufficient to cause diffuse mesangial sclerosis.

Kidney Int 2009 Feb 26;75(4):415-9. Epub 2008 Nov 26.

Wessex Regional Paediatric Nephro-Urology Service, Southampton General Hospital, Southampton, UK.

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http://dx.doi.org/10.1038/ki.2008.573DOI Listing
February 2009

Multiple de novo mutations in the MECP2 gene.

Genet Test 2008 Sep;12(3):373-5

Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, United Kingdom.

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http://dx.doi.org/10.1089/gte.2008.0012DOI Listing
September 2008

A case of rare recessive oculopharyngeal muscular dystrophy (OPMD) coexisting with hereditary neuropathy with liability to pressure palsies (HNPP).

Clin Neurol Neurosurg 2008 May 21;110(5):525-8. Epub 2008 Mar 21.

Department of Neurology, University Hospital of Wales, Cardiff CF14 4XW, UK.

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http://dx.doi.org/10.1016/j.clineuro.2008.02.007DOI Listing
May 2008

Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia.

Am J Med Genet A 2008 Mar;146A(5):558-69

Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, UK.

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http://dx.doi.org/10.1002/ajmg.a.32209DOI Listing
March 2008

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

Mol Biotechnol 2007 Feb;35(2):135-40

National Genetics Reference Laboratory (Wessex), Salisbury Hospital NHS Trust, Salisbury, Wiltshire, SP2 8BJ.

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http://dx.doi.org/10.1007/BF02686108DOI Listing
February 2007

Siblings with recessive oculopharyngeal muscular dystrophy.

Neuromuscul Disord 2007 Mar 12;17(3):254-7. Epub 2007 Feb 12.

Department of Gastroenterology, Aconbury East, Worcester Royal Hospital, Worcester WR5 1EP, UK.

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http://dx.doi.org/10.1016/j.nmd.2006.11.009DOI Listing
March 2007

Transient neonatal diabetes mellitus in an infant with paternal uniparental disomy of chromosome 6 including heterodisomy for 6q24.

J Pediatr Endocrinol Metab 2006 Nov;19(11):1353-7

Department of Endocrinology, Mother and Child Health Care Institute of Serbia, Radoja Dakica 8, 11070 Belgrade, Serbia.

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http://dx.doi.org/10.1515/jpem.2006.19.11.1353DOI Listing
November 2006

Towards an understanding of congenital ptosis.

Orbit 2006 Sep;25(3):179-84

Adnexal Unit, Department of Ophthalmology, Norfolk and Norwich University Hospital, Colney Lane, Norwich, NR4 7UY, UK.

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http://dx.doi.org/10.1080/01676830600669163DOI Listing
September 2006

Influence of the MDM2 single nucleotide polymorphism SNP309 on tumour development in BRCA1 mutation carriers.

BMC Cancer 2006 Mar 24;6:80. Epub 2006 Mar 24.

Cancer Research UK Oncology Unit, Cancer Sciences Division, University of Southampton School of Medicine, Southampton General Hospital, Southampton, SO16 6YD, UK.

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http://dx.doi.org/10.1186/1471-2407-6-80DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1483833PMC
March 2006

Bisulphite sequencing of the transient neonatal diabetes mellitus DMR facilitates a novel diagnostic test but reveals no methylation anomalies in patients of unknown aetiology.

Hum Genet 2005 Mar 6;116(4):255-61. Epub 2005 Jan 6.

Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, SP2 8BJ, UK.

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http://dx.doi.org/10.1007/s00439-004-1236-1DOI Listing
March 2005

The distinguishing sequence characteristics of mouse imprinted genes.

Mamm Genome 2002 Nov;13(11):639-45

Human Genetics, Duthie Building (808), University of Southampton, Tremona Road, Southampton SO16 6YD, UK.

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http://dx.doi.org/10.1007/s00335-002-3038-xDOI Listing
November 2002

Molecular and cytogenetic analysis of the spreading of X inactivation in X;autosome translocations.

Hum Mol Genet 2002 Dec;11(25):3145-56

Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, SP2 8BJ, UK.

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http://dx.doi.org/10.1093/hmg/11.25.3145DOI Listing
December 2002

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

Hum Genet 2002 Dec 13;111(6):511-20. Epub 2002 Sep 13.

Human Genetics, Duthie Building (808), University of Southampton, Tremona Road, Southampton, SO16 6YD, UK.

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http://dx.doi.org/10.1007/s00439-002-0822-3DOI Listing
December 2002

A candidate gene for congenital bilateral isolated ptosis identified by molecular analysis of a de novo balanced translocation.

Hum Genet 2002 Mar 1;110(3):244-50. Epub 2002 Feb 1.

Southampton University School of Medicine, Human Genetics Division, Southampton General Hospital, Southampton SO16 6YD, UK.

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http://dx.doi.org/10.1007/s00439-002-0679-5DOI Listing
March 2002