Publications by authors named "Colin Munro"

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Machine Learning and Symptom Patterns in Degenerative Cervical Myelopathy: Web-Based Survey Study.
Alvaro Yanez Touzet, Tanzil Rujeedawa, Colin Munro, Konstantinos Margetis, Benjamin M Davies

JMIR Form Res· January 2024

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Targeting earlier diagnosis: What symptoms come first in Degenerative Cervical Myelopathy?
Colin F Munro, Ratko Yurac, Zipser Carl Moritz, Michael G Fehlings, Ricardo Rodrigues-Pinto

PLoS One· April 2023

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Outcomes of Degenerative Cervical Myelopathy From The Perspective of Persons Living With the Condition: Findings of a Semistructured Interview Process With Partnered Internet Survey.
Benjamin M Davies, Colin Munro, Danyal Z Khan, Siobhan M Fitzpatrick, Bryn Hilton

Global Spine J· April 2022

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A Novel Insight Into the Challenges of Diagnosing Degenerative Cervical Myelopathy Using Web-Based Symptom Checkers.
Benjamin Marshall Davies, Colin Fraser Munro, Mark Rn Kotter

J Med Internet Res· January 2019

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The Internet: What are our patients exposed to when considering breast reconstruction following mastectomy?
Amy Light, Colin Munro, William Breakey, Adam Critchley

Breast· December 2014

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Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma.
Diana C Blaydon, Lisbet K Lind, Vincent Plagnol, Kenneth J Linton, Francis J D Smith, Colin S Munro

Am J Hum Genet· August 2013

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Novel ATP2A2 mutations in a large sample of individuals with Darier disease.
Elaine K Green, Katherine Gordon-Smith, Susan M Burge, Detelina Grozeva, Colin S Munro

J Dermatol· April 2013

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Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma.
Elizabeth Pohler, Ons Mamai, Jennifer Hirst, Mozheh Zamiri, Helen Horn, Colin S Munro

Nat Genet· November 2012

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Mutations in the SASPase gene (ASPRV1) are not associated with atopic eczema or clinically dry skin.
Aileen Sandilands, Sara J Brown, Christabelle S Goh, Elizabeth Pohler, Neil J Wilson, Colin S Munro

J Invest Dermatol· May 2012

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Filaggrin null mutations are not a protective factor for acne vulgaris.
John E A Common, Sara J Brown, Rebecca L Haines, Christabelle S M Goh, Huijia Chen, Colin S Munro

J Invest Dermatol· June 2011

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Molecular genetics of the skin: the implications of understanding.
Colin S Munro

Clin Med (Lond)· December 2009

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Heterozygous null alleles in filaggrin contribute to clinical dry skin in young adults and the elderly.
Ann Sergeant, Linda E Campbell, Peter R Hull, Martin Porter, Colin N A Palmer, Colin S Munro

J Invest Dermatol· April 2009

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Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis.
Yaran Wen, Yang Liu, Yiming Xu, Yiwei Zhao, Rui Hua, Colin S Munro

Nat Genet· February 2009

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Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema.
Aileen Sandilands, Ana Terron-Kwiatkowski, Peter R Hull, Gráinne M O'Regan, Timothy H Clayton, Colin S Munro

Nat Genet· May 2007

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Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and woolly hair associated with a novel insertion mutation in desmoplakin.
Elizabeth E Norgett, Tom W Lucke, Bill Bowers, Colin S Munro, Irene M Leigh

J Invest Dermatol· July 2006

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Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis.
Colin N A Palmer, Alan D Irvine, Ana Terron-Kwiatkowski, Yiwei Zhao, Haihui Liao, Colin S Munro

Nat Genet· April 2006

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Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.
Frances J D Smith, Alan D Irvine, Ana Terron-Kwiatkowski, Aileen Sandilands, Linda E Campbell, Colin S Munro

Nat Genet· March 2006

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Two families with Greither's syndrome caused by a keratin 1 mutation.
Joanna E Gach, Colin S Munro, E Birgitte Lane, Neil J Wilson, Celia Moss

J Am Acad Dermatol· November 2005

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Clinical and pathological features of pachyonychia congenita.
Sancy A Leachman, Roger L Kaspar, Philip Fleckman, Scott R Florell, Frances J D Smith, Colin S Munro

J Investig Dermatol Symp Proc· October 2005

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The genetic basis of pachyonychia congenita.
Frances J D Smith, Haihui Liao, Andrew J Cassidy, Arlene Stewart, Kevin J Hamill, Colin S Munro

J Investig Dermatol Symp Proc· October 2005

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Hailey-Hailey disease: identification of novel mutations in ATP2C1 and effect of missense mutation A528P on protein expression levels.
Rebecca J Fairclough, Lorne Lonie, Kurt Van Baelen, Marek Haftek, Colin S Munro

J Invest Dermatol· July 2004

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An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome.
W H Irwin McLean, Alan D Irvine, Kevin J Hamill, Neil V Whittock, Carrie M Coleman-Campbell, Colin S Munro

Hum Mol Genet· September 2003

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Novel mutations in the gene encoding secreted lymphocyte antigen-6/urokinase-type plasminogen activator receptor-related protein-1 (SLURP-1) and description of five ancestral haplotypes in patients with Mal de Meleda.
Slaheddine Marrakchi, Stéphanie Audebert, Bakar Bouadjar, Christina Has, Caroline Lefèvre, Colin Munro

J Invest Dermatol· March 2003

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Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1).
Takahiro Hamada, W H Irwin McLean, Michele Ramsay, Gabrielle H S Ashton, Arti Nanda, Colin S Munro

Hum Mol Genet· April 2002

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Hailey-Hailey disease: molecular and clinical characterization of novel mutations in the ATP2C1 gene.
Carol Dobson-Stone, Rebecca Fairclough, Eimear Dunne, Joanna Brown, Manel Dissanayake, Colin S Munro

J Invest Dermatol· February 2002

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