J. Muroi

Assessment of human exposure to polychlorinated biphenyls and polybrominated diphenyl ethers in Japan using archived samples from the early 1980s and mid-1990s (2005)

Koizumi, A, Yoshinaga, T, Harada, K, Inoue, K, Morikawa, A, Muroi, J, ...

Secular trends and geographical variations in the dietary intake of polybrominated diphenyl ethers (PBDEs) using archived samples from the early 1980s and mid 1990s in Japan (2005)

Wada, Y, Koizumi, A, Yoshinaga, T, Harada, K, Inoue, K, Morikawa, A, ...

Hereditary pancreatic hypoplasia, diabetes mellitus, and congenital heart disease: a new syndrome?

Yorifuji, T, Matsumura, M, Okuno, T, Shimizu, K, Sonomura, T, Muroi, J, ...

We report on a Japanese family with hereditary pancreatic hypoplasia, diabetes mellitus, and congenital heart disease. The disease was apparently inherited as an autosomal dominant trait. The...

Nephropathy and growth hormone deficiency in a patient with mitochondrial tRNA(Leu(UUR)) mutation.

Yorifuji, T, Kawai, M, Momoi, T, Sasaki, H, Furusho, K, Muroi, J, ...

A mitochondrial A 3243 G mutation in the tRNA(Leu(UUR)) gene was first described as a common cause of MELAS syndrome (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like...

Uniparental and functional X disomy in Turner syndrome patients with unexplained mental retardation and X derived marker chromosomes.

Yorifuji, T, Muroi, J, Kawai, M, Uematsu, A, Sasaki, H, Momoi, T, ...

We analysed parental origin and X inactivation status of X derived marker (mar(X)) or ring X (r(X)) chromosomes in six Turner syndrome patients. Two of these patients had mental retardation of...

Kenny-Caffey syndrome without the CATCH 22 deletion.

Yorifuji, T, Muroi, J, Uematsu, A

Analysis of the SRY gene in Turner syndrome patients with Y chromosomal material

Yorifuji, T., Muroi, J., Mamada, M., Uematsu, A., Kawai, M., Momoi, T., ...