Works matching IS 14345161 AND DT 1998 AND VI 43 AND IP 2

Results: 14

Age-specific incidences of chromosome abnormalities at the second trimester amniocentesis for Japanese mothers aged 35 and older: collaborative study of 5484 cases.

Published in:

Journal of Human Genetics, 1998, v. 43, n. 2, p. 85, doi. 10.1007/s100380050046

By:

Yaegashi, Nobuo;
Senoo, Masato;
Uehara, S.;
Suzuki, Hisako;
Maeda, Tohru;
Fujimori, Keiya;
Hirahara, Fumiki;
Yajima, Akira

Publication type:

Article

Identification of brain-specific splicing variants of the hDLG1 gene and altered splicing in neuroblastoma cell lines.

Published in:

Journal of Human Genetics, 1998, v. 43, n. 2, p. 123, doi. 10.1007/s100380050052

By:

Mori, Kanji;
Iwao, Kyoko;
Miyoshi, Yasuo;
Nakagawara, Akira;
Kofu, Kazuyoshi;
Akiyama, Tetsu;
Arita, Norio;
Hayakawa, Toru;
Nakamura, Y.

Publication type:

Article

Mutational analysis of the RET proto-oncogene in 71 Japanese patients with medullary thyroid carcinoma.

Published in:

Journal of Human Genetics, 1998, v. 43, n. 2, p. 101, doi. 10.1007/s100380050048

By:

Shirahama, Syuya;
Ogura, K.;
Takami, Hiroshi;
Ito, Kunihiko;
Tohsen, Tohichi;
Miyauchi, Akira;
Nakamura, Yusuke;
of Surgery, First Department;
of Medicine, Teikyo University School;
Tokyo;
Japan

Publication type:

Article

Mutations in the hepatocyte nuclear factor-1α gene (MODY3) are not a major cause of early-onset non-insulin-dependent (type 2) diabetes mellitus in Japanese.

Published in:

Journal of Human Genetics, 1998, v. 43, n. 2, p. 107, doi. 10.1007/s100380050049

By:

Nishigori, Hidekazu;
Yamada, Shirou;
Kohama, Tomoko;
Utsugi, Toshihiro;
Shimizu, Hiroyuki;
Takeuchi, Toshiyuki;
Takeda, J.

Publication type:

Article

Analysis of bilirubin uridine 5′-diphosphate (UDP)-glucuronosyltransferase gene mutations in seven patients with Crigler-Najjar syndrome type II.

Published in:

Journal of Human Genetics, 1998, v. 43, n. 2, p. 111, doi. 10.1007/s100380050050

By:

Yamamoto, Kazuo;
Soeda, Yoko;
Kamisako, Toshinori;
Hosaka, Hiroo;
Fukano, Miya;
Sato, H.;
Fujiyama, Yoshihide;
Adachi, Yukihiko;
Satoh, Yuzuru;
Bamba, Tadao

Publication type:

Article

Retrotransposal integration of mobile genetic elements in human diseases.

Published in:

Journal of Human Genetics, 1998, v. 43, n. 2, p. 77, doi. 10.1007/s100380050045

By:

Miki, Yoshio

Publication type:

Article

Cloning and chromosomal mapping of a novel ABC transporter gene (hABC7), a candidate for X-linked sideroblastic anemia with spinocerebellar ataxia.

Published in:

Journal of Human Genetics, 1998, v. 43, n. 2, p. 115, doi. 10.1007/s100380050051

By:

Shimada, Yoshikazu;
Okuno, Shiro;
Kawai, Atushi;
Shinomiya, Hiroichi;
Saito, Akihiko;
Suzuki, Mikio;
Omori, Yoshihiro;
Nishino, Naoki;
Kanemoto, Naohide;
Fujiwara, Tsutomu;
Horie, Masato;
Takahashi, E.

Publication type:

Article

Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain α-keto acid dehydrogenase complex.

Published in:

Journal of Human Genetics, 1998, v. 43, n. 2, p. 91, doi. 10.1007/s100380050047

By:

Tsuruta, Motoko;
Mitsubuchi, Hiroshi;
Mardy, S.;
Miura, Yuichi;
Hayashida, Yumi;
Kinugasa, Akihiko;
Ishitsu, Takateru;
Matsuda, Ichiro;
Indo, Y.

Publication type:

Article

Mutation and polymorphic marker analyses of 65K- and 67K-glutamate decarboxylase genes in two families with pyridoxine-dependent epilepsy.

Published in:

Journal of Human Genetics, 1998, v. 43, n. 2, p. 128, doi. 10.1007/s100380050053

By:

Kure, S.;
Sakata, Yoshiyuki;
Miyabayashi, Shigeaki;
Takahashi, Kazutoshi;
Shinka, Toshikatsu;
Matsubara, Yoichi;
Hoshino, Hisao;
Narisawa, Kuniaki

Publication type:

Article

A one-base deletion (183delC) and a missense mutation (D276H) in the T-protein gene from a Japanese family with nonketotic hyperglycinemia.

Published in:

Journal of Human Genetics, 1998, v. 43, n. 2, p. 135, doi. 10.1007/s100380050055

By:

Kure, S.;
Shinka, Toshikatsu;
Sakata, Yoshiyuki;
Osamu, Narasaki;
Takayanagi, Masaru;
Tada, Keiya;
Matsubara, Yoichi;
Narisawa, Kuniaki

Publication type:

Article

Genomic organization and mapping of the human activin receptor type IIB (hActR-IIB) gene.

Published in:

Journal of Human Genetics, 1998, v. 43, n. 2, p. 132, doi. 10.1007/s100380050054

By:

Ishikawa, Shinji;
Kai, Mikio;
Murata, Yasushi;
Tamari, Mayumi;
Daigo, Yataro;
Murano, Takeshi;
Ogawa, Michio;
Nakamura, Y.

Publication type:

Article

Maternal uniparental disomy for chromosome 14 in a boy with intrauterine growth retardation.

Published in:

Journal of Human Genetics, 1998, v. 43, n. 2, p. 138, doi. 10.1007/s100380050056

By:

Miyoshi, O.;
Hayashi, Satoshi;
Fujimoto, Masahiro;
Tomita, Hiroaki;
Sohda, Masakazu;
Niikawa, Norio

Publication type:

Article

Novel germline mutations of hMSH2 in a patient with hereditary nonpolyposis colorectal cancer (HNPCC) and in a patient with six primary cancers.

Published in:

Journal of Human Genetics, 1998, v. 43, n. 2, p. 143, doi. 10.1007/s100380050057

By:

Okamura, S.;
Koyama, K.;
Miyoshi, Yasuo;
Monden, Morito;
Takami, Motohisa

Publication type:

Article

A polymorphic CA repeat sequence at the human calcitonin locus.

Published in:

Journal of Human Genetics, 1998, v. 43, n. 2, p. 146, doi. 10.1007/s100380050058

By:

Tsukamoto, Kazuhiro;
Emi, M.

Publication type:

Article