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

Nature genetics, 2006-03, Vol.38 (3), p.337-342

2006

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Mutations in the chromatin-associated protein ATRX

Human mutation, 2008-06, Vol.29 (6), p.796-802

2008

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Prevalent and Rare Mutations in the Gene Encoding Filaggrin Cause Ichthyosis Vulgaris and Predispose Individuals to Atopic Dermatitis

Journal of investigative dermatology, 2006-08, Vol.126 (8), p.1770-1775

2006

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Multiple Self-Healing Squamous Epithelioma (MSSE): Rare Variants in an Adjacent Region of Chromosome 9q22.3 to Known TGFBR1 Mutations Suggest a Digenic or Multilocus Etiology

Journal of investigative dermatology, 2013-07, Vol.133 (7), p.1907-1910

2013

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Filaggrin Mutations Are Genetic Modifying Factors Exacerbating X-Linked Ichthyosis

Journal of investigative dermatology, 2007-12, Vol.127 (12), p.2795-2798

2007

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Faecal haemoglobin concentration in adenoma, before and after polypectomy, approaches the ideal tumour marker

Annals of clinical biochemistry, 2022-07, Vol.59 (4), p.272-276

2022

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

The international journal of biochemistry & cell biology, 2014-08, Vol.53, p.520-525

2014

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Faecal haemoglobin can define risk of colorectal neoplasia at surveillance colonoscopy in patients at increased risk of colorectal cancer

United European gastroenterology journal, 2020-06, Vol.8 (5), p.559-566

2020

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

Journal of the Endocrine Society, 2018-07, Vol.2 (7), p.806-816

2018

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Multiple Self-Healing Squamous Epithelioma in Different Ethnic Groups: More than a Founder Mutation Disorder?

Journal of investigative dermatology, 2007-10, Vol.127 (10), p.2336-2344

2007

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Lifestyle Changes in Women at Genetic Risk of Breast Cancer: an Observational Study

International journal of behavioral medicine, 2013-12, Vol.20 (4), p.514-521

2013

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Common Mutations in Arg304 of the p63 Gene in Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome: Lack of Genotype–Phenotype Correlation and Implications for Mutation Detection Strategies

Journal of investigative dermatology, 2002-11, Vol.119 (5), p.1202-1203

2002

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Biotinidase deficiency: Novel mutations and their biochemical and clinical correlates

Human mutation, 2005-04, Vol.25 (4), p.413-413

2005

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Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome

PloS one, 2016-04, Vol.11 (4), p.e0153757-e0153757

2016

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Mapping the multiple self-healing squamous epithelioma (MSSE) gene and investigation of xeroderma pigmentosum group a (XPA) and PATCHED (PTCH) as candidate genes

Human genetics, 1997-12, Vol.101 (3), p.317-322

1997

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Multiple self-healing squamous epitheliomata (ESS1) mapped to chromosome 9q22-q31 in families with common ancestry

Nature genetics, 1993-02, Vol.3 (2), p.165-169

1993

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Evaluation of a surveillance programme for women with a family history of breast cancer

Journal of medical genetics, 2009-05, Vol.46 (5), p.319-323

2009

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Abstract LB-245: Loss of function of the TGFβRI receptor leads to the spontaneously regressing squamous carcinoma condition, multiple self-healing squamous epithelioma (Ferguson-Smith disease)

Cancer research (Chicago, Ill.), 2011-04, Vol.71 (8_Supplement), p.LB-245-LB-245

2011

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Trimethylaminuria (fish-odor syndrome): a case report

Archives of dermatology (1960), 2007-01, Vol.143 (1), p.81

2007

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Analysis of four microsatellite markers on the long arm of chromosome 9 by meiotic recombination in flow-sorted single sperm

American journal of human genetics, 1993-06, Vol.52 (6), p.1191-1199

1993

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Common mutations in Arg304 of the p63 gene in ectrodactyly, ectodermal dysplasia, clefting syndrome: lack of genotype-phenotype correlation and implications for mutation detection strategies

The Journal of investigative dermatology, 2002, Vol.119 (5), p.1202-1203

2002

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Vascular Effects of Apelin In Vivo in Man

Journal of the American College of Cardiology, 2008-09, Vol.52 (11), p.908-913

2008

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

Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1

Mutations in the chromatin-associated protein ATRX

Prevalent and Rare Mutations in the Gene Encoding Filaggrin Cause Ichthyosis Vulgaris and Predispose Individuals to Atopic Dermatitis

Multiple Self-Healing Squamous Epithelioma (MSSE): Rare Variants in an Adjacent Region of Chromosome 9q22.3 to Known TGFBR1 Mutations Suggest a Digenic or Multilocus Etiology

Filaggrin Mutations Are Genetic Modifying Factors Exacerbating X-Linked Ichthyosis

Faecal haemoglobin concentration in adenoma, before and after polypectomy, approaches the ideal tumour marker

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

Faecal haemoglobin can define risk of colorectal neoplasia at surveillance colonoscopy in patients at increased risk of colorectal cancer

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

Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma

Multiple Self-Healing Squamous Epithelioma in Different Ethnic Groups: More than a Founder Mutation Disorder?

Lifestyle Changes in Women at Genetic Risk of Breast Cancer: an Observational Study

Common Mutations in Arg304 of the p63 Gene in Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome: Lack of Genotype–Phenotype Correlation and Implications for Mutation Detection Strategies

Biotinidase deficiency: Novel mutations and their biochemical and clinical correlates

Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis

Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome

Mapping the multiple self-healing squamous epithelioma (MSSE) gene and investigation of xeroderma pigmentosum group a (XPA) and PATCHED (PTCH) as candidate genes

Multiple self-healing squamous epitheliomata (ESS1) mapped to chromosome 9q22-q31 in families with common ancestry

Evaluation of a surveillance programme for women with a family history of breast cancer

Abstract LB-245: Loss of function of the TGFβRI receptor leads to the spontaneously regressing squamous carcinoma condition, multiple self-healing squamous epithelioma (Ferguson-Smith disease)

Trimethylaminuria (fish-odor syndrome): a case report

Analysis of four microsatellite markers on the long arm of chromosome 9 by meiotic recombination in flow-sorted single sperm

Common mutations in Arg304 of the p63 gene in ectrodactyly, ectodermal dysplasia, clefting syndrome: lack of genotype-phenotype correlation and implications for mutation detection strategies

Vascular Effects of Apelin In Vivo in Man

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