Works matching IS 14345161 AND DT 2006 AND VI 51 AND IP 5

Results: 18

Is there any evidence for linkage on chromosome 17cen in affected Japanese sib-pairs with an intracranial aneurysm?

Published in:

Journal of Human Genetics, 2006, v. 51, n. 5, p. 491, doi. 10.1007/s10038-006-0379-4

By:

Krischek, Boris;
Narita, Akira;
Akagawa, Hiroyuki;
Kasuya, Hidetoshi;
Tajima, Atsushi;
Onda, Hideaki;
Yoneyama, Taku;
Hori, Tomokatsu;
Inoue, Ituro

Publication type:

Article

Polymorphisms in the ABO blood group gene in three populations in the New Georgia group of the Solomon Islands.

Published in:

Journal of Human Genetics, 2006, v. 51, n. 5, p. 407, doi. 10.1007/s10038-006-0375-8

By:

Ohashi, Jun;
Naka, Izumi;
Kimura, Ryosuke;
Tokunaga, Katsushi;
Yamauchi, Taro;
Natsuhara, Kazumi;
Furusawa, Takuro;
Yamamoto, Rain;
Nakazawa, Minato;
Ishida, Takafumi;
Ohtsuka, Ryutaro

Publication type:

Article

Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred.

Published in:

Journal of Human Genetics, 2006, v. 51, n. 5, p. 487, doi. 10.1007/s10038-006-0377-6

By:

Specktor, Polina;
Cooper, John;
Indelman, Margarita;
Sprecher, Eli

Publication type:

Article

Coexistence of five G6PD variants indicates ethnic complexity of Phuket islanders, Southern Thailand.

Published in:

Journal of Human Genetics, 2006, v. 51, n. 5, p. 424, doi. 10.1007/s10038-006-0380-y

By:

Ninokata, Aya;
Kimura, Ryosuke;
Samakkarn, Urai;
Settheetham-Ishida, Wannapa;
Ishida, Takafumi

Publication type:

Article

Meta-analysis of genome-wide linkage studies for bone mineral density.

Published in:

Journal of Human Genetics, 2006, v. 51, n. 5, p. 480, doi. 10.1007/s10038-006-0390-9

By:

Young Ho Lee;
Young Hee Rho;
Seong Jae Choi;
Jong Dae Ji;
Gwan Gyu Song

Publication type:

Article

Complete hydatidiform mole and normal live birth following intracytoplasmic sperm injection.

Published in:

Journal of Human Genetics, 2006, v. 51, n. 5, p. 477, doi. 10.1007/s10038-006-0388-3

By:

Hamanoue, Haruka;
Umezu, Nobuko;
Okuda, Mika;
Harada, Naoki;
Ohata, Takako;
Sakai, Haruya;
Mizuguchi, Takeshi;
Ishikawa, Hiroshi;
Takahashi, Tsuneo;
Miura, Kiyonori;
Hirahara, Fumiki;
Matsumoto, Naomichi

Publication type:

Article

Tissue specificity of methylation and expression of human genes coding for neuropeptides and their receptors, and of a human endogenous retrovirus K family.

Published in:

Journal of Human Genetics, 2006, v. 51, n. 5, p. 440, doi. 10.1007/s10038-006-0382-9

By:

Hong-mei Shen;
Nakamura, Akifumi;
Sugimoto, Jun;
Sakumoto, Noboru;
Oda, Takaya;
Jinno, Yoshihiro;
Okazaki, Yuji

Publication type:

Article

COL7A1 mutation G2037E causes epidermal retention of type VII collagen.

Published in:

Journal of Human Genetics, 2006, v. 51, n. 5, p. 418, doi. 10.1007/s10038-006-0378-5

By:

Sawamura, Daisuke;
Sato-Matsumura, Kazuko;
Shibata, Satoko;
Tashiro, Akari;
Furue, Masutaka;
Goto, Maki;
Sakai, Kaori;
Akiyama, Masashi;
Nakamura, Hideki;
Shimizu, Hiroshi

Publication type:

Article

Genetic encapsulation among Near Eastern populations.

Published in:

Journal of Human Genetics, 2006, v. 51, n. 5, p. 467, doi. 10.1007/s10038-006-0387-4

By:

Shepard, Erica M.;
Herrera, Rene J.

Publication type:

Article

Complete sequence data support lack of balancing selection on PRNP in a natural Chinese population.

Published in:

Journal of Human Genetics, 2006, v. 51, n. 5, p. 451, doi. 10.1007/s10038-006-0383-8

By:

Qin Zan;
Bo Wen;
Yungang He;
Yi Wang;
Shuhua Xu;
Ji Qian;
Daru Lu;
Li Jin

Publication type:

Article

Diagnosis and cell-based therapy for Duchenne muscular dystrophy in humans, mice, and zebrafish.

Published in:

Journal of Human Genetics, 2006, v. 51, n. 5, p. 397, doi. 10.1007/s10038-006-0374-9

By:

Kunkel, Louis M.;
Bachrach, Estanislao;
Bennett, Richard R.;
Guyon, Jeffrey;
Steffen, Leta

Publication type:

Article

A novel missense mutation of the EDA gene in a Mongolian family with congenital hypodontia.

Published in:

Journal of Human Genetics, 2006, v. 51, n. 5, p. 498, doi. 10.1007/s10038-006-0389-2

By:

Ran Tao;
Buhe Jin;
Guo, Shen Z.;
Wei Qing;
Feng, Guo Y.;
Brooks, David;
Lijun Liu;
Junfu Xu;
Taiwei Li;
Yujuan Yan;
Lin He

Publication type:

Article

Sequence polymorphisms of the mtDNA control region in a human isolate: the Georgians from Swanetia.

Published in:

Journal of Human Genetics, 2006, v. 51, n. 5, p. 429, doi. 10.1007/s10038-006-0381-x

By:

Alfonso-Sánchez, Miguel;
Martínez-Bouzas, Cristina;
Castro, Azucena;
Peña, Jose;
Fernández-Fernández, Isabel;
Herrera, Rene;
Pancorbo, Marian

Publication type:

Article

Cancer genetics: colorectal cancer as a model.

Published in:

Journal of Human Genetics, 2006, v. 51, n. 5, p. 391, doi. 10.1007/s10038-006-0373-x

By:

Bodmer, Walter

Publication type:

Article

A novel KCNQ4 one-base deletion in a large pedigree with hearing loss: implication for the genotype–phenotype correlation.

Published in:

Journal of Human Genetics, 2006, v. 51, n. 5, p. 455, doi. 10.1007/s10038-006-0384-7

By:

Kamada, Fumiaki;
Kure, Shigeo;
Kudo, Takayuki;
Suzuki, Yoichi;
Oshima, Takeshi;
Ichinohe, Akiko;
Kojima, Kanako;
Niihori, Tetsuya;
Kanno, Junko;
Narumi, Yoko;
Narisawa, Ayumi;
Kato, Kumi;
Aoki, Yoko;
Ikeda, Katsuhisa;
Kobayashi, Toshimitsu;
Matsubara, Yoichi

Publication type:

Article

A novel IL2RG mutation associated with maternal T lymphocyte engraftment in a patient with severe combined immunodeficiency.

Published in:

Journal of Human Genetics, 2006, v. 51, n. 5, p. 495, doi. 10.1007/s10038-006-0386-5

By:

Kellermayer, Richard;
Hsu, Amy P.;
Stankovics, József;
Balogh, Péter;
Hadzsiev, Kinga;
Vojcek, Ágnes;
Maródi, László;
Kajtár, Pál;
Kosztolányi, György;
Puck, Jennifer M.

Publication type:

Article

A −16C>T substitution in the 5′ UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in Nagano.

Published in:

Journal of Human Genetics, 2006, v. 51, n. 5, p. 461, doi. 10.1007/s10038-006-0385-6

By:

Ohata, Takako;
Yoshida, Kunihiro;
Sakai, Haruya;
Hamanoue, Haruka;
Mizuguchi, Takeshi;
Shimizu, Yusaku;
Okano, Tomomi;
Takada, Fumio;
Ishikawa, Kinya;
Mizusawa, Hidehiro;
Yoshiura, Ko-ichiro;
Fukushima, Yoshimitsu;
Ikeda, Shu-ichi;
Matsumoto, Naomichi

Publication type:

Article

Microarray comparative genomic hybridization (CGH)-based prenatal diagnosis for chromosome abnormalities using cell-free fetal DNA in amniotic fluid.

Published in:

Journal of Human Genetics, 2006, v. 51, n. 5, p. 412, doi. 10.1007/s10038-006-0376-7

By:

Miura, Shoko;
Miura, Kiyonori;
Masuzaki, Hideaki;
Miyake, Noriko;
Yoshiura, Koh-ichiro;
Sosonkina, Nadiya;
Harada, Naoki;
Shimokawa, Osamu;
Nakayama, Daisuke;
Yoshimura, Shuichiro;
Matsumoto, Naomichi;
Niikawa, Norio;
Ishimaru, Tadayuki

Publication type:

Article