Works matching IS 14345161 AND DT 2008 AND VI 53 AND IP 6

Results: 13

Analysis of GADD45A sequence variations in French Canadian families with high risk of breast cancer.

Published in:

Journal of Human Genetics, 2008, v. 53, n. 6, p. 490, doi. 10.1007/s10038-008-0276-0

By:

Desjardins, Sylvie;
Ouellette, Geneviève;
Labrie, Yvan;
Simard, Jacques;
Durocher, Francine

Publication type:

Article

The role of MTHFR gene in multiple myeloma.

Published in:

Journal of Human Genetics, 2008, v. 53, n. 6, p. 499, doi. 10.1007/s10038-008-0277-z

By:

Zintzaras, Elias;
Giannouli, Stavroula;
Rodopoulou, Paraskevi;
Voulgarelis, Michael

Publication type:

Article

Polymorphisms of tumor necrosis factor-alpha are associated with increased susceptibility to gastric cancer: a meta-analysis.

Published in:

Journal of Human Genetics, 2008, v. 53, n. 6, p. 479, doi. 10.1007/s10038-008-0273-3

By:

Jiyuan Zhang;
Chao Dou;
Yuting Song;
Chaoneng Ji;
Shaohua Gu;
Yi Xie;
Yumin Mao

Publication type:

Article

Association study of TP53 polymorphisms with lung cancer in a Korean population.

Published in:

Journal of Human Genetics, 2008, v. 53, n. 6, p. 508, doi. 10.1007/s10038-008-0278-y

By:

Hae-Yun Jung;
Young Mi Whang;
Jae Sook Sung;
Hyoung Doo Shin;
Byung Lae Park;
Jun Suk Kim;
Sang Won Shin;
Hee Yun Seo;
Jae Hong Seo;
Yeul Hong Kim

Publication type:

Article

Gap junction beta 1 ( GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease.

Published in:

Journal of Human Genetics, 2008, v. 53, n. 6, p. 529, doi. 10.1007/s10038-008-0280-4

By:

Mandich, Paola;
Grandis, Marina;
Geroldi, Alessandro;
Acquaviva, Massimo;
Varese, Alessandra;
Gulli, Rossella;
Ciotti, Paola;
Bellone, Emilia

Publication type:

Article

Variations in the FTO gene are associated with severe obesity in the Japanese.

Published in:

Journal of Human Genetics, 2008, v. 53, n. 6, p. 546, doi. 10.1007/s10038-008-0283-1

By:

Hotta, Kikuko;
Nakata, Yoshio;
Matsuo, Tomoaki;
Kamohara, Seika;
Kotani, Kazuaki;
Komatsu, Ryoya;
Itoh, Naoto;
Mineo, Ikuo;
Wada, Jun;
Masuzaki, Hiroaki;
Yoneda, Masato;
Nakajima, Atsushi;
Miyazaki, Shigeru;
Tokunaga, Katsuto;
Kawamoto, Manabu;
Funahashi, Tohru;
Hamaguchi, Kazuyuki;
Yamada, Kentaro;
Hanafusa, Toshiaki;
Oikawa, Shinichi

Publication type:

Article

Screening of BCS1L mutations in severe neonatal disorders suspicious for mitochondrial cause.

Published in:

Journal of Human Genetics, 2008, v. 53, n. 6, p. 554, doi. 10.1007/s10038-008-0284-0

By:

Fellman, Vineta;
Lemmelä, Susanna;
Sajantila, Antti;
Pihko, Helena;
Järvelä, Irma

Publication type:

Article

Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency.

Published in:

Journal of Human Genetics, 2008, v. 53, n. 6, p. 534, doi. 10.1007/s10038-008-0282-2

By:

Tabata, Ayako;
Jian-Sheng Sheng;
Ushikai, Miharu;
Yuan-Zong Song;
Hong-Zhi Gao;
Yao-Bang Lu;
Okumura, Fumihiko;
Iijima, Mikio;
Mutoh, Kozo;
Kishida, Shosei;
Saheki, Takeyori;
Kobayashi, Keiko

Publication type:

Article

Early modification of sickle cell disease clinical course by UDP-glucuronosyltransferase 1A1 gene promoter polymorphism.

Published in:

Journal of Human Genetics, 2008, v. 53, n. 6, p. 524, doi. 10.1007/s10038-008-0281-3

By:

Martins, Rute;
Morais, Anabela;
Dias, Alexandra;
Soares, Isabel;
Rolão, Cristiana;
Ducla-Soares, J. L.;
Braga, Lígia;
Seixas, Teresa;
Nunes, Baltazar;
Olim, Gabriel;
Romão, Luísa;
Lavinha, João;
Faustino, Paula

Publication type:

Article

TIM-3 polymorphisms in type 1 diabetes families.

Published in:

Journal of Human Genetics, 2008, v. 53, n. 6, p. 559, doi. 10.1007/s10038-008-0286-y

By:

Brück, Patrick;
Ramos-Lopez, Elizabeth;
Bartsch, Wiebke;
Böhme, Angelika;
Badenhoop, Klaus

Publication type:

Article

Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy.

Published in:

Journal of Human Genetics, 2008, v. 53, n. 6, p. 565, doi. 10.1007/s10038-008-0263-5

By:

Oliveira, Jorge;
Soares-Silva, Isabel;
Fokkema, Ivo;
Gonçalves, Ana;
Cabral, Alexandra;
Diogo, Luísa;
Galán, Lucía;
Guimarães, António;
Fineza, Isabel;
Dunnen, Johan;
Santos, Rosário

Publication type:

Article

Congenital central hypoventilation syndrome with hyperinsulinism in a preterm infant.

Published in:

Journal of Human Genetics, 2008, v. 53, n. 6, p. 573, doi. 10.1007/s10038-008-0275-1

By:

Hennewig, Ulrike;
Hadzik, Berit;
Vogel, Markus;
Meissner, Thomas;
Goecke, Timm;
Peters, Hartmut;
Selzer, Georg;
Mayatepek, Ertan;
Hoehn, Thomas

Publication type:

Article

Global correlation analysis for micro-RNA and mRNA expression profiles in human cell lines.

Published in:

Journal of Human Genetics, 2008, v. 53, n. 6, p. 515, doi. 10.1007/s10038-008-0279-x

By:

Ruike, Yoshinao;
Ichimura, Atsuhiko;
Tsuchiya, Soken;
Shimizu, Kazuharu;
Kunimoto, Ryo;
Okuno, Yasushi;
Tsujimoto, Gozoh

Publication type:

Article