A. Nagasaki

Birt–Hogg–Dubé syndrome with clear‐cell and oncocytic renal tumour and trichoblastoma associated with a novel FLCN mutation

H. Shimizu, K. Urabe, A. Yokomizo, 2009, The British journal of dermatology.

Specific filaggrin mutations cause ichthyosis vulgaris and are significantly associated with atopic dermatitis in Japan.

M. Akiyama, H. Shimizu, C. Palmer, 2008, The Journal of investigative dermatology.

Morphological and genetic analysis of steatocystoma multiplex in an Asian family with pachyonychia congenita type 2 harbouring a KRT17 missense mutation

M. Akiyama, H. Shimizu, T. Shimizu, 2009, The British journal of dermatology.

Plectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplex

J. R. McMillan, M. Akiyama, H. Shimizu, 2010, Human mutation.

Clinical and genetic analysis of Fabry disease: report of six cases including three heterozygous females.

H. Shimizu, E. Noguchi, D. Sawamura, 2008, Journal of dermatological science.

Prevalent and rare mutations in the gene encoding filaggrin in Japanese patients with ichthyosis vulgaris and atopic dermatitis.

M. Akiyama, H. Shimizu, C. Palmer, 2009, The Journal of investigative dermatology.

DNA-based prenatal exclusion of harlequin ichthyosis.

M. Akiyama, H. Shimizu, R. Kosaki, 2008, Journal of the American Academy of Dermatology.

ITGB4 missense mutation in a transmembrane domain causes non-lethal variant of junctional epidermolysis bullosa with pyloric atresia.

H. Shimizu, Hideki Nakamura, H. Kawasaki, 2007, Journal of dermatological science.