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David Goudie

Research Profile

Physiology

Concepts & Ideas

Chemicals & Drugs

Disorders

Procedures

DNA Mutational Analysis

Genes & Molecular Sequences

Geographic Areas

Scotland

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Publications

TOP 3
David R Goudie; Mariella D'Alessandro; Barry Merriman; Hane Lee; Ildikó Szeverényi; Stuart Avery; Brian D O'Connor; Stanley F Nelson; Stephanie E Coats; Arlene Stewart; Lesley Christie; Gabriella Pichert; Jean Friedel; Ian Hayes; Nigel Burrows; Sean Whittaker; Anne-Marie Gerdes; Sigurd Broesby-Olsen; Malcolm A Ferguson-Smith; Chandra Verma; Declan P Lunny; Bruno Reversade; E Birgitte Lane
Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1.
Haihui Liao; Alex J Waters; David R Goudie; David A Aitken; Gordon Graham; Frances J D Smith; Sue Lewis-Jones; W H Irwin McLean
Filaggrin mutations are genetic modifying factors exacerbating X-linked ichthyosis.
Laura Berroeta; Irene Man; David R Goudie; Sharon D Whatley; George H Elder; Sally H Ibbotson
Late presentation of erythropoietic protoporphyria: case report and genetic analysis of family members.

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All Publications

2011: David R Goudie; Mariella D'Alessandro; Barry Merriman; Hane Lee; Ildikó Szeverényi; Stuart Avery; Brian D O'Connor; Stanley F Nelson; Stephanie E Coats; Arlene Stewart; Lesley Christie; Gabriella Pichert; Jean Friedel; Ian Hayes; Nigel Burrows; Sean Whittaker; Anne-Marie Gerdes; Sigurd Broesby-Olsen; Malcolm A Ferguson-Smith; Chandra Verma; Declan P Lunny; Bruno Reversade; E Birgitte Lane
Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1.
Nature genetics 2011;43(4):365-9.
2007: Haihui Liao; Alex J Waters; David R Goudie; David A Aitken; Gordon Graham; Frances J D Smith; Sue Lewis-Jones; W H Irwin McLean
Filaggrin mutations are genetic modifying factors exacerbating X-linked ichthyosis.
The Journal of investigative dermatology 2007;127(12):2795-8.
2007: Laura Berroeta; Irene Man; David R Goudie; Sharon D Whatley; George H Elder; Sally H Ibbotson
Late presentation of erythropoietic protoporphyria: case report and genetic analysis of family members.
The British journal of dermatology 2007;157(5):1030-1.
2007: Gehan Arseculeratne; Alvin K C Wong; David R Goudie; James Ferguson
Trimethylaminuria (fish-odor syndrome): a case report.
Archives of dermatology 2007;143(1):81-4.
2006: D Young; L McLeish; frank sullivan; M Pitkethly; M Reis; David R Goudie; H Vysny; Gozde Ozakinci; Michael Steel
Familial breast cancer: management of 'lower risk' referrals.
British journal of cancer 2006;95(8):974-8.
2006: Aileen Sandilands; Gráinne M O'Regan; Haihui Liao; Yiwei Zhao; Ana Terron-Kwiatkowski; Rosemarie M Watson; Andrew J Cassidy; David R Goudie; Frances J D Smith; W H Irwin McLean; Alan D Irvine
Prevalent and rare mutations in the gene encoding filaggrin cause ichthyosis vulgaris and predispose individuals to atopic dermatitis.
The Journal of investigative dermatology 2006;126(8):1770-5.
2006: Colin N A Palmer; Alan D Irvine; Ana Terron-Kwiatkowski; Yiwei Zhao; Haihui Liao; Simon P Lee; David R Goudie; Aileen Sandilands; Linda E Campbell; Frances J D Smith; Gráinne M O'Regan; Rosemarie M Watson; Joanne E Cecil; Sherri J Bale; John G Compton; John J DiGiovanna; Philip Fleckman; Sue Lewis-Jones; Gehan Arseculeratne; Ann Sergeant; Colin S Munro; Brahim El Houate; Ken McElreavey; Liselotte B Halkjaer; Hans Bisgaard; Somnath Mukhopadhyay; W H Irwin McLean
Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis.
Nature genetics 2006;38(4):441-6.
2006: Frances J D Smith; Alan D Irvine; Ana Terron-Kwiatkowski; Aileen Sandilands; Linda E Campbell; Yiwei Zhao; Haihui Liao; Alan T Evans; David R Goudie; Sue Lewis-Jones; Gehan Arseculeratne; Colin S Munro; Ann Sergeant; Gráinne M O'Regan; Sherri J Bale; John G Compton; John J DiGiovanna; Richard B Presland; Philip Fleckman; W H Irwin McLean
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.
Nature genetics 2006;38(3):337-42.
2006: Marta M Reis; Dorothy Young; Lorna McLeish; David R Goudie; Alan Cook; frank sullivan; Helen Vysny; Alison Fordyce; Roger Black; Manouche Tavakoli; Michael Steel
Analysis of referrals to a multi-disciplinary breast cancer genetics clinic: practical and economic considerations.
Familial cancer 2006;5(4):297-303.
2003: Paul J Batstone; Sheila Simpson; David T Bonthron; Wee T Keng; Doreen Hamilton; Linda Forsyth; Mark Sales; Norman Pratt; David R Goudie
Effective monosomy or trisomy of chromosome band 2q37.3 due to the unbalanced segregation of a 2;11 translocation.
American journal of medical genetics. Part A 2003;118A(3):241-6.
2003: Ailsa McLellan; Hilary A Phillips; Christopher Rittey; Martin Kirkpatrick; John C Mulley; David R Goudie; John B P Stephenson; John Tolmie; Ingrid E Scheffer; Samuel F Berkovic; Sameer M Zuberi
Phenotypic comparison of two Scottish families with mutations in different genes causing autosomal dominant nocturnal frontal lobe epilepsy.
Epilepsia 2003;44(4):613-7.
2002: R G Hislop; Norman Pratt; S C Stocks; C M Steel; Mark Sales; David R Goudie; A Robertson; Alastair Thompson
Karyotypic aberrations of chromosomes 16 and 17 are related to survival in patients with breast cancer.
The British journal of surgery 2002;89(12):1581-6.
2002: Pål Møller; Ake Borg; D G R Evans; Neva E Haites; Marta M Reis; H F A Vasen; Elaine Anderson; C Michael Steel; Jaran Apold; David R Goudie; Anthony Howell; Fiona Lalloo; Lovise Maehle; Helen Gregory; Ketil Heimdal
Survival in prospectively ascertained familial breast cancer: analysis of a series stratified by tumour characteristics, BRCA mutations and oophorectomy.
International journal of cancer. Journal international du cancer 2002;101(6):555-9.
2001: Hilary A Phillips; I Favre; Martin Kirkpatrick; Sameer M Zuberi; David R Goudie; Sarah E Heron; Ingrid E Scheffer; Grant R Sutherland; Samuel F Berkovic; D Bertrand; John C Mulley
CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy.
American journal of human genetics 2001;68(1):225-31.
1998: David U Baty; Ana Terron-Kwiatkowski; D Mechan; A Harris; Martin Pippard; David R Goudie
Development of a multiplex ARMS test for mutations in the HFE gene associated with hereditary haemochromatosis.
Journal of clinical pathology 1998;51(1):73-4.
1997: J R MacFarlane; JS Du; M E Pepys; Simon Ramsden; Dian Donnai; R Charlton; C Garrett; J Tolmie; J R Yates; C Berry; David R Goudie; A Moncla; P Lunt; S Hodgson; M Jouet; Sue Kenwrick
Nine novel L1 CAM mutations in families with X-linked hydrocephalus.
Human mutation 1997;9(6):512-8.