Idiopathic hypoparathyroidism in two patients with 22q11 microdeletion.

Por Makita, Y, Masuno, M, Maizumi, K, Tachibana, K, Kuroki, Y, Kurahashi, H
Publicado em 1995

Median cleft of upper lip and pedunculated skin masses associated with de novo reciprocal translocation 46,X,t(X;16)(q28;q11.2).

Por Masuno, M, Imaizumi, K, Fukushima, Y, Tanaka, Y, Ishii, T, Nakamura, M, Kuroki, Y
Publicado em 1997

Shwachman syndrome associated with de novo reciprocal translocation t(6;12)(q16.2;q21.2).

Por Masuno, M, Imaizumi, K, Nishimura, G, Nakamura, M, Saito, I, Akagi, K, Kuroki, Y
Publicado em 1995

Currarino triad with a terminal deletion 7q35-->qter.

Por Masuno, M, Imaizumi, K, Aida, N, Tanaka, Y, Sekido, K, Ohhama, Y, Nishi, T, Kuroki, Y
Publicado em 1996

Deletion mapping of 22q11 in CATCH22 syndrome: identification of a second critical region.

Por Kurahashi, H., Nakayama, T., Osugi, Y., Tsuda, E., Masuno, M., Imaizumi, K., Kamiya, T., Sano, T., Okada, S., Nishisho, I.
Publicado em 1996

Human peroxisome assembly factor-2 (PAF-2): a gene responsible for group C peroxisome biogenesis disorder in humans.

Por Fukuda, S., Shimozawa, N., Suzuki, Y., Zhang, Z., Tomatsu, S., Tsukamoto, T., Hashiguchi, N., Osumi, T., Masuno, M., Imaizumi, K., Kuroki, Y., Fujiki, Y., Orii, T., Kondo, N.
Publicado em 1996

Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations.

Por Schimmenti, L A, Cunliffe, H E, McNoe, L A, Ward, T A, French, M C, Shim, H H, Zhang, Y H, Proesmans, W, Leys, A, Byerly, K A, Braddock, S R, Masuno, M, Imaizumi, K, Devriendt, K, Eccles, M R
Publicado em 1997