A. Terron-Kwiatkowski

发表

Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema

Colin N A Palmer, Robert Gruber, C. Palmer, 2007, Nature Genetics.

Genetic Diversity in Melanoma Metastases from a Patient with Xeroderma Pigmentosum

A. Terron-Kwiatkowski, Palmer Cn, 2010 .

Modeling the Structure of Keratin 1 and 10 Terminal Domains and their Misassembly in Keratoderma.

Adelene Y. L. Sim, E. Lane, C. Verma, 2017, The Journal of investigative dermatology.

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

D. Goudie, Yiwei Zhao, A. Irvine, 2006, The Journal of investigative dermatology.

Filaggrin null alleles are not associated with psoriasis.

R. McManus, C. Palmer, R. Trembath, 2007, The Journal of investigative dermatology.

Filaggrin Null Alleles Are Not Associated with

R. Trembath, F. Capon, D. Kane, 2007 .

A novel homozygous keratin 10 mutation in siblings with autosomal recessive epidermolytic ichthyosis

D. Mechan, B. Wagner, M. Balasubramanian, 2010 .

Mutation S233L in the 1B domain of keratin 1 causes epidermolytic palmoplantar keratoderma with "tonotubular" keratin.

E. Lane, P. Steijlen, W. McLean, 2006, The Journal of investigative dermatology.

Two cases of primarily palmoplantar keratoderma associated with novel mutations in keratin 1.

A. Paller, A. Irvine, W. McLean, 2002, The Journal of investigative dermatology.

Atypical epidermolytic palmoplantar keratoderma presentation associated with a mutation in the keratin 1 gene

G. Melino, A. Terrinoni, A. Irvine, 2004, The British journal of dermatology.

Filaggrin Mutations Strongly Predispose to Early-Onset and Extrinsic Atopic Dermatitis

R. Lawrence, A. Sandilands, A. Terron-Kwiatkowski, 2007 .

Ichthyosis with confetti presenting as collodion baby: a novel mutation in KRT10

D. Baty, A. Terron-Kwiatkowski, S. H. Foo, 2017, Clinical and experimental dermatology.

Congenital reticular ichthyosiform erythroderma

A. Irvine, V. Dvorakova, R. Watson, 2016, Clinical and experimental dermatology.

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

Colin N A Palmer, Ann Sergeant, Hans Bisgaard, 2006, Nature Genetics.

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

S. Bale, D. Goudie, C. Munro, 2006, Nature Genetics.

Under‐recognition of acral peeling skin syndrome: 59 new cases with 15 novel mutations

J. McGrath, C. Has, J. Mellerio, 2014, The British journal of dermatology.

Filaggrin null mutations are associated with increased asthma severity in children and young adults.

Colin N A Palmer, C. Palmer, Yiwei Zhao, 2007, The Journal of allergy and clinical immunology.

The p.Glu477Lys Mutation in Keratin 5 Is Strongly Associated with Mortality in Generalized Severe Epidermolysis Bullosa Simplex.

J. McGrath, J. Mellerio, S. Hoey, 2016, The Journal of investigative dermatology.

Filaggrin null mutations are associated with increased asthma exacerbations in children and young adults

B. Lipworth, C. Palmer, S. Mukhopadhyay, 2008, Allergy.