Works matching IS 14345161 AND DT 1999 AND VI 44 AND IP 2

Results: 17

Clinical applications of two-color telomeric fluorescence in situ hybridization for prenatal diagnosis: Identification of chromosomal translocation in five families with recurrent miscarriages or a child with multiple congenital anomalies.

Published in:

Journal of Human Genetics, 1999, v. 44, n. 2, p. 85, doi. 10.1007/s100380050115

By:

Wakui, Keiko;
Tanemura, Mitsuyo;
Suzumori, Kaoru;
Hidaka, Eiko;
Ishikawa, Masayo;
Kubota, Takeo;
Fukushima, Y.

Publication type:

Article

A novel therapeutic trial of homogentisic aciduria in a murine model of alkaptonuria.

Published in:

Journal of Human Genetics, 1999, v. 44, n. 2, p. 79, doi. 10.1007/s100380050114

By:

Suzuki, Yasuyo;
Oda, Kazumi;
Yoshikawa, Yasuji;
Maeda, Toyoki;
Suzuki, T.

Publication type:

Article

Novel mutations, including the second most common in Japan, in the β-hexosaminidase α subunit gene, and a simple screening of Japanese patients with Tay-Sachs disease.

Published in:

Journal of Human Genetics, 1999, v. 44, n. 2, p. 91, doi. 10.1007/s100380050116

By:

Tanaka, A.;
Fujimaru, Mutsuko;
Choeh, Kyuchul;
Isshiki, Gen

Publication type:

Article

Ret/PTC3 is the most frequent form of gene rearrangement in papillary thyroid carcinomas in Japan.

Published in:

Journal of Human Genetics, 1999, v. 44, n. 2, p. 96, doi. 10.1007/s100380050117

By:

Kitamura, Yutaka;
Minobe, Kaori;
Nakata, Tomoko;
Shimizu, Kazuo;
Tanaka, Shigeo;
Fujimori, Minoru;
Yokoyama, Shiro;
Ito, Koichi;
Onda, Masahiko;
Emi, M.

Publication type:

Article

Germline mutations of the APC gene in Korean familial adenomatous polyposis patients.

Published in:

Journal of Human Genetics, 1999, v. 44, n. 2, p. 103, doi. 10.1007/s100380050118

By:

Won, Yong-Jin;
Park, Kyu Joo;
Kwon, Hyuk-Joon;
Lee, J.-H.;
Kim, J.-H.;
Kim, Young Jin;
Chun, Soo Han;
Han, Hye-Jung;
Park, J.-G.

Publication type:

Article

Molecular epidemiology of C9 deficiency heterozygotes with an Arg95Stop mutation of the C9 gene in Japan.

Published in:

Journal of Human Genetics, 1999, v. 44, n. 2, p. 109, doi. 10.1007/s100380050119

By:

Kira, R.;
Ihara, Kenji;
Watanabe, Kyoko;
Kanemitsu, Satomi;
Ahmed, Saif Uddin;
Gondo, Kenjiro;
Takeshita, Kenzo;
Hara, Toshiro

Publication type:

Article

Isolation and chromosomal assignment of human genes encoding cofactor of LIM homeodomain proteins, CLIM1 and CLIM2.

Published in:

Journal of Human Genetics, 1999, v. 44, n. 2, p. 112, doi. 10.1007/s100380050120

By:

Ueki, Nobuhide;
Seki, Naohiko;
Yano, Kazuhiro;
Ohira, Miki;
Saito, Toshiyuki;
Masuho, Yasuhiko;
Muramatsu, M.

Publication type:

Article

Isolation and characterization of a novel serine threonine kinase gene on chromosome 3p22-21.3.

Published in:

Journal of Human Genetics, 1999, v. 44, n. 2, p. 116, doi. 10.1007/s100380050121

By:

Tamari, Mayumi;
Daigo, Yataro;
Nakamura, Y.

Publication type:

Article

A novel human gene whose product shares significant homology with the bovine brain-specific protein p25 on chromosome 5p15.3.

Published in:

Journal of Human Genetics, 1999, v. 44, n. 2, p. 121, doi. 10.1007/s100380050122

By:

Seki, Naohiko;
Hattori, Atsushi;
Sugano, Sumio;
Suzuki, Yutaka;
Nakagawara, Akira;
Muramatsu, Masa-aki;
Hori, Tada-aki;
Saito, T.

Publication type:

Article

A novel nonsense mutation of the PEX7 gene in a patient with rhizomelic chondrodysplasia punctata.

Published in:

Journal of Human Genetics, 1999, v. 44, n. 2, p. 123, doi. 10.1007/s100380050123

By:

Shimozawa, N.;
Suzuki, Yasuyuki;
Zhang, Zhongyi;
Miura, Kiyokuni;
Matsumoto, Akiko;
Nagaya, Masahiro;
Castillo-Taucher, Silvia;
Kondo, Naomi

Publication type:

Article

A Gln/Arg polymorphism at codon 349 of the hBUBR1 gene.

Published in:

Journal of Human Genetics, 1999, v. 44, n. 2, p. 131, doi. 10.1007/s100380050126

By:

Katagiri, T.;
Futamura, Manabu;
Nakamura, Yusuke

Publication type:

Article

Familial isolated noncompaction of ventricular myocardium.

Published in:

Journal of Human Genetics, 1999, v. 44, n. 2, p. 126, doi. 10.1007/s100380050124

By:

Matsuda, M.;
Tsukahara, Masato;
Kondoh, Osamu;
Mito, Hiroshi

Publication type:

Article

Isolation and radiation hybrid mapping of a highly polymorphic CA repeat sequence at the human nuclear factor kappa-beta subunit 1 (NFKB1) locus.

Published in:

Journal of Human Genetics, 1999, v. 44, n. 2, p. 129, doi. 10.1007/s100380050125

By:

Ota, Nobutaka;
Nakajima, Toshiaki;
Shirai, Yasumasa;
Emi, M.

Publication type:

Article

Isolation and mapping of a polymorphic CA repeat sequence at the human VRK1 locus.

Published in:

Journal of Human Genetics, 1999, v. 44, n. 2, p. 133, doi. 10.1007/s100380050127

By:

Sugimoto, Jun;
Yamauchi, Toshihiro;
Hatakeyama, Toyomasa;
Isobe, Masaharu;
Sugimoto, J.;
Yamauchi, T.;
Hatakeyama, T.;
Isobe, M.

Publication type:

Article

A novel Sac I RFLP in the 3′ untranslated region of the myotonin protein kinase gene.

Published in:

Journal of Human Genetics, 1999, v. 44, n. 2, p. 135, doi. 10.1007/s100380050128

By:

Nakamura, Akinori;
Minami, Narihiro;
Kamitani, Toshiaki;
Kamakura, Keiko;
Arahata, Kiichi;
Takeda, S.

Publication type:

Article

The human regulator of G-protein signaling protein 6 gene (RGS6) maps between markers WI-5202 and D14S277 on chromosome 14q24.3.

Published in:

Journal of Human Genetics, 1999, v. 44, n. 2, p. 138, doi. 10.1007/s100380050129

By:

Seki, Naohiko;
Hattori, Atsushi;
Hayashi, Akiko;
Kozuma, Sumie;
Hori, Tada-aki;
Saito, T.

Publication type:

Article

Chromosomal assignment of a human apoptosis-associated tyrosine kinase gene on chromosome 17q25.3 by somatic hybrid analysis and fluorescence in situ hybridization.

Published in:

Journal of Human Genetics, 1999, v. 44, n. 2, p. 141, doi. 10.1007/s100380050130

By:

Seki, Naohiko;
Hayashi, Akiko;
Hattori, Atsushi;
Kozuma, Sumie;
Ohira, Miki;
Hori, Tada-aki;
Saito, T.

Publication type:

Article