Hayashi R - Search Results

1

A novel heterozygous mutation in desmoplakin gene in a Lebanese patient with Carvajal syndrome and tooth agenesis.

Bitar F, Najjar T, Hayashi R, Nemer G, Shigehara Y, Hamie L, Abbas O, Kibbi AG, Shimomura Y, Kurban M. Bitar F, et al. Among authors: hayashi r. J Eur Acad Dermatol Venereol. 2016 Dec;30(12):e217-e219. doi: 10.1111/jdv.13549. Epub 2016 Feb 1. J Eur Acad Dermatol Venereol. 2016. PMID: 26833927 No abstract available.

2

Case of hypohidrotic ectodermal dysplasia caused by a large deletion mutation in the EDA gene.

Hayashi R, Farooq M, Fujikawa H, Fujimoto A, Hashimoto T, Ito M, Shimomura Y. Hayashi R, et al. J Dermatol. 2013 Apr;40(4):281-3. doi: 10.1111/1346-8138.12077. Epub 2013 Jan 7. J Dermatol. 2013. PMID: 23293949 No abstract available.

3

Compound heterozygous mutations in two distinct catalytic residues of the LIPH gene underlie autosomal recessive woolly hair in a Japanese family.

Hayashi R, Akasaka T, Ito M, Shimomura Y. Hayashi R, et al. J Dermatol. 2014 Oct;41(10):937-8. doi: 10.1111/1346-8138.12612. Epub 2014 Sep 9. J Dermatol. 2014. PMID: 25201209 No abstract available.

4

Expression studies of a novel splice site mutation in the LIPH gene identified in a Japanese patient with autosomal recessive woolly hair.

Hayashi R, Inui S, Farooq M, Ito M, Shimomura Y. Hayashi R, et al. J Dermatol. 2014 Oct;41(10):890-4. doi: 10.1111/1346-8138.12623. J Dermatol. 2014. PMID: 25271093

5

Japanese case of oculodentodigital dysplasia caused by a mutation in the GJA1 gene.

Hayashi R, Bito T, Taniguchi-Ikeda M, Farooq M, Ito M, Shimomura Y. Hayashi R, et al. J Dermatol. 2014 Dec;41(12):1109-10. doi: 10.1111/1346-8138.12656. Epub 2014 Oct 20. J Dermatol. 2014. PMID: 25327171 No abstract available.

6

Novel EDA hemizygous frame-shift mutation c. 731delG (p.R244Qfs*36) underlies hypohidrotic ectodermal dysplasia in a Japanese family.

Kurihara Y, Hayashi R, Watanabe E, Miyakawa S, Kajiwara K, Matsuda M, Yoshida K, Shimomura Y, Niizeki H. Kurihara Y, et al. Among authors: hayashi r. J Dermatol. 2014 Dec;41(12):1110-2. doi: 10.1111/1346-8138.12701. J Dermatol. 2014. PMID: 25438642 No abstract available.

7

Identification of a recurrent mitochondrial mutation in a Japanese family with palmoplantar keratoderma, nail dystrophy, and deafness.

Hayashi R, Fujiwara H, Morishita M, Ito M, Shimomura Y. Hayashi R, et al. Eur J Dermatol. 2015 Jan-Feb;25(1):79-81. doi: 10.1684/ejd.2014.2461. Eur J Dermatol. 2015. PMID: 25513986 No abstract available.

8

Analysis of unique mutations in the LPAR6 gene identified in a Japanese family with autosomal recessive woolly hair/hypotrichosis: Establishment of a useful assay system for LPA6.

Hayashi R, Inoue A, Suga Y, Aoki J, Shimomura Y. Hayashi R, et al. J Dermatol Sci. 2015 Jun;78(3):197-205. doi: 10.1016/j.jdermsci.2015.03.006. Epub 2015 Mar 18. J Dermatol Sci. 2015. PMID: 25828854

9

Identification of a novel mutation, c.686delAins18 (p.Asp229Glyfs*22), in the LIPH gene as a compound heterozygote with c.736T>A (p.Cys246Ser) in autosomal recessive woolly hair/hypotrichosis.

Ito T, Shimomura Y, Hayashi R, Tokura Y. Ito T, et al. Among authors: hayashi r. J Dermatol. 2015 Jul;42(7):752-3. doi: 10.1111/1346-8138.12889. Epub 2015 Apr 20. J Dermatol. 2015. PMID: 25899282 No abstract available.

10

Novel homozygous mutation, c.400C>T (p.Arg134*), in the PVRL1 gene underlies cleft lip/palate-ectodermal dysplasia syndrome in an Asian patient.

Yoshida K, Hayashi R, Fujita H, Kubota M, Kondo M, Shimomura Y, Niizeki H. Yoshida K, et al. Among authors: hayashi r. J Dermatol. 2015 Jul;42(7):715-9. doi: 10.1111/1346-8138.12882. Epub 2015 Apr 24. J Dermatol. 2015. PMID: 25913853

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