Publications by authors named "David Goudie"

44Publications

Features of multiple self-healing squamous epithelioma and Loeys-Dietz syndrome in a patient with a novel TGFBR1 variant.

Am J Med Genet A 2018 12 4;176(12):2892-2895. Epub 2018 Dec 4.

Genetic Health Service, Wellington, New Zealand.

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http://doi.wiley.com/10.1002/ajmg.a.40652
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http://dx.doi.org/10.1002/ajmg.a.40652DOI Listing
December 2018

Pathogenicity and Penetrance of Germline Variants in Pheochromocytoma and Paraganglioma (PPGL).

J Endocr Soc 2018 Jul 18;2(7):806-816. Epub 2018 Jun 18.

Division of Molecular & Clinical Medicine, Ninewells Hospital & Medical School, University of Dundee, Dundee, Scotland.

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http://dx.doi.org/10.1210/js.2018-00120DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6030830PMC
July 2018

Growing skull fracture at birth: a rare presentation of Menkes disease.

Arch Dis Child 2019 11 31;104(11):1112-1113. Epub 2018 May 31.

Paediatrics and Neonatology, Ninewells Hospital and Medical School, Dundee, UK.

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http://dx.doi.org/10.1136/archdischild-2018-314747DOI Listing
November 2019

Digenic/multilocus aetiology of multiple self-healing squamous epithelioma (Ferguson-Smith disease): TGFBR1 and a second linked locus.

Int J Biochem Cell Biol 2014 Aug 18;53:520-5. Epub 2014 Apr 18.

Human Genetics Unit, University of Dundee College of Medicine, Dentistry and Nursing, Ninewells Hospital, Dundee, UK. Electronic address:

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http://dx.doi.org/10.1016/j.biocel.2014.04.007DOI Listing
August 2014

Aicardi syndrome in a 47 XXY male - a variable developmental phenotype?

Eur J Paediatr Neurol 2014 Jul 12;18(4):529-31. Epub 2014 Mar 12.

Tayside Children's Hospital, NHS Tayside, Ninewells Hospital & Medical School, Dundee DD1 9SY, UK.

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http://dx.doi.org/10.1016/j.ejpn.2014.03.004DOI Listing
July 2014

A novel mutation of NKX2-1 affecting 2 generations with hypothyroidism and choreoathetosis: part of the spectrum of brain-thyroid-lung syndrome.

J Child Neurol 2014 May 21;29(5):666-9. Epub 2014 Jan 21.

1Department of Paediatrics, NHS Ayrshire and Arran, Crosshouse Hospital, Kilmarnock, United Kingdom.

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http://dx.doi.org/10.1177/0883073813518243DOI Listing
May 2014

Lifestyle changes in women at genetic risk of breast cancer: an observational study.

Int J Behav Med 2013 Dec;20(4):514-21

Department of Clinical Genetics, Ninewells Hospital and Medical School, Dundee, DD1 9SY, UK.

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http://dx.doi.org/10.1007/s12529-012-9263-0DOI Listing
December 2013

Inflammatory bowel disease: a classic case of Dalziel's disease.

BMJ 2010 Oct 13;341:c4932. Epub 2010 Oct 13.

Raigmore Hospital, Inverness, UK.

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http://dx.doi.org/10.1136/bmj.c4932DOI Listing
October 2010

Unusual presentation of Lynch Syndrome.

Hered Cancer Clin Pract 2009 Jun 3;7(1):12. Epub 2009 Jun 3.

Cancer Genetics Unit, Royal Marsden NHS Foundation Trust, Fulham Road, London, SW3 6JJ, UK.

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http://dx.doi.org/10.1186/1897-4287-7-12DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2696413PMC
June 2009

Mutations in the iodotyrosine deiodinase gene and hypothyroidism.

N Engl J Med 2008 Apr;358(17):1811-8

Department of Internal Medicine, Erasmus Medical Center, Erasmus University, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1056/NEJMoa0706819DOI Listing
April 2008

Mutations in the chromatin-associated protein ATRX.

Hum Mutat 2008 Jun;29(6):796-802

MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom.

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http://dx.doi.org/10.1002/humu.20734DOI Listing
June 2008

Filaggrin mutations are genetic modifying factors exacerbating X-linked ichthyosis.

J Invest Dermatol 2007 Dec 26;127(12):2795-8. Epub 2007 Jul 26.

Epithelial Genetics Group, Human Genetics Unit, Division of Pathology and Neuroscience, Ninewells Hospital and Medical School, University of Dundee, Dundee, UK.

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http://dx.doi.org/10.1038/sj.jid.5700971DOI Listing
December 2007

Trimethylaminuria (fish-odor syndrome): a case report.

Arch Dermatol 2007 Jan;143(1):81-4

Photobiology Unit, Department of Dermatology, Ninewells Hospital and Medical School, Dundee, Scotland.

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http://dx.doi.org/10.1001/archderm.143.1.81DOI Listing
January 2007

Analysis of referrals to a multi-disciplinary breast cancer genetics clinic: practical and economic considerations.

Fam Cancer 2006 1;5(4):297-303. Epub 2006 Jul 1.

Tayside Breast Cancer Family Clinic, Ninewells Hospital and Medical School, Dundee, DD1 9SY, UK.

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http://dx.doi.org/10.1007/s10689-006-7849-xDOI Listing
September 2007

Prevalent and rare mutations in the gene encoding filaggrin cause ichthyosis vulgaris and predispose individuals to atopic dermatitis.

J Invest Dermatol 2006 Aug 29;126(8):1770-5. Epub 2006 Jun 29.

Epithelial Genetics Group, Human Genetics Unit, Division of Pathology and Neuroscience, University of Dundee, Ninewells Hospital and Medical School, Dundee, UK.

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http://dx.doi.org/10.1038/sj.jid.5700459DOI Listing
August 2006

Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.

Nat Genet 2006 Mar 29;38(3):337-42. Epub 2006 Jan 29.

Epithelial Genetics Group, Human Genetics Unit, Division of Pathology and Neuroscience, University of Dundee, Ninewells Hospital & Medical School, Dundee DD1 9SY, UK.

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http://dx.doi.org/10.1038/ng1743DOI Listing
March 2006

Biotinidase deficiency: novel mutations and their biochemical and clinical correlates.

Hum Mutat 2005 Apr;25(4):413

Department of Pediatrics, Connecticut Children's Medical Center and the University of Connecticut School of Medicine, Farmington, Connecticut, USA.

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http://dx.doi.org/10.1002/humu.9329DOI Listing
April 2005

Effective monosomy or trisomy of chromosome band 2q37.3 due to the unbalanced segregation of a 2;11 translocation.

Am J Med Genet A 2003 Apr;118A(3):241-6

Cytogenetics Laboratory, Pathology Department, Highland Acute Hospitals NHS Trust, Raigmore Hospital, Inverness, Scotland, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.10204DOI Listing
April 2003