Publications by authors named "Neil J Wilson"

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PSENEN Mutation in Coexistent Hidradenitis Suppurativa and Dowling-Degos Disease.
Dincy C V Peter, Frances J D Smith, Neil J Wilson, Sumita Danda

Indian Dermatol Online J· September 2020

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Skin fragility, woolly hair syndrome with a desmoplakin mutation - a case from India.
Dincy C V Peter, Meera Thomas, Neil J Wilson, Frances J D Smith

Int J Dermatol· September 2018

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First Report of Pachyonychia Congenita Type PC-K6a in the Romanian Population.
Anca Chiriac, Cristina Rusu, Alina Murgu, Anca E Chiriac, Neil J Wilson

Maedica (Bucur)· June 2017

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A novel mutation in a case of pachyonychia congenita from India.
Anup Kumar Tiwary, Neil J Wilson, Mary E Schwartz, Frances J D Smith

Indian J Dermatol Venereol Leprol· May 2017

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Keratin 17 Mutations in Four Families from India with Pachyonychia Congenita.
Manoj Agarwala, Pankaj Salphale, Dincy Peter, Neil J Wilson, Susanne Pulimood

Indian J Dermatol· January 2017

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Expanding the Phenotypic Spectrum of Olmsted Syndrome.
Neil J Wilson, Christian Cole, Leonard M Milstone, Ana E Kiszewski, C David Hansen

J Invest Dermatol· November 2015

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Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin.
Maeve A McAleer, Elizabeth Pohler, Frances J D Smith, Neil J Wilson, Christian Cole

J Allergy Clin Immunol· November 2015

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Loss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads.
Zhimiao Lin, Jiahui Zhao, Daniela Nitoiu, Claire A Scott, Vincent Plagnol, Neil J Wilson

Am J Hum Genet· March 2015

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Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting.
Liat Samuelov, Ofer Sarig, Robert M Harmon, Debora Rapaport, Akemi Ishida-Yamamoto, Neil J Wilson

Nat Genet· October 2013

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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, Neil J Wilson

Am J Hum Genet· August 2013

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Recessive mutations in the gene encoding frizzled 6 cause twenty nail dystrophy--expanding the differential diagnosis for pachyonychia congenita.
Neil J Wilson, C David Hansen, Dilek Azkur, Can N Kocabas, Ayse Metin

J Dermatol Sci· 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, Neil J Wilson

Nat Genet· November 2012

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Homozygous dominant missense mutation in keratin 17 leads to alopecia in addition to severe pachyonychia congenita.
Neil J Wilson, Mónica L Cárdenas Pérez, Anders Vahlquist, Mary E Schwartz, C David Hansen

J Invest Dermatol· July 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

J Invest Dermatol· May 2012

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Genotype-phenotype correlations among pachyonychia congenita patients with K16 mutations.
Teresa Fu, Sancy A Leachman, Neil J Wilson, Frances J D Smith, Mary E Schwartz

J Invest Dermatol· May 2011

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A large mutational study in pachyonychia congenita.
Neil J Wilson, Sancy A Leachman, C David Hansen, Alexandra C McMullan, Leonard M Milstone

J Invest Dermatol· May 2011

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Keratin K6c mutations cause focal palmoplantar keratoderma.
Neil J Wilson, Andrew G Messenger, Sancy A Leachman, Edel A O'Toole, E Birgitte Lane

J Invest Dermatol· February 2010

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Pachyonychia congenita type 2, N92S mutation of keratin 17 gene: clinical features, mutation analysis and pathological view.
Ozgur Cogulu, Huseyin Onay, Ayca Aykut, Neil J Wilson, Frances J D Smith

Eur J Pediatr· October 2009

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Pachyonychia congenita type I presenting with subtle nail changes.
Matilde Iorizzo, Colombina Vincenzi, Frances J D Smith, Neil J Wilson, Antonella Tosti

Pediatr Dermatol· October 2009

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A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita.
Haihui Liao, Jane M Sayers, Neil J Wilson, Alan D Irvine, Jemima E Mellerio

J Dermatol Sci· December 2007

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Epidermolysis bullosa simplex in Scotland caused by a spectrum of keratin mutations.
Elizabeth L Rugg, Helen M Horn, Frances J Smith, Neil J Wilson, Alison J M Hill

J Invest Dermatol· March 2007

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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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Defolliculated (dfl): a dominant mouse mutation leading to poor sebaceous gland differentiation and total elimination of pelage follicles.
Rebecca M Porter, Colin A B Jahoda, Declan P Lunny, Gayle Henderson, Jane Ross, Neil J Wilson

J Invest Dermatol· July 2002

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