Works matching IS 14345161 AND DT 2007 AND VI 52 AND IP 6

Results: 16

Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: a unique SLC26A4 mutation spectrum.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 6, p. 492, doi. 10.1007/s10038-007-0139-0

By:

Hao Hu;
Lingqian Wu;
Yong Feng;
Qian Pan;
Zhigao Long;
Juan Li;
Heping Dai;
Kun Xia;
Desheng Liang;
Niikawa, Norio;
Jiahui Xia

Publication type:

Article

A novel DFNA5 mutation does not cause hearing loss in an Iranian family.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 6, p. 549, doi. 10.1007/s10038-007-0137-2

By:

Van Laer, Lut;
Meyer, Nicole C.;
Malekpour, Mahdi;
Riazalhosseini, Yasser;
Moghannibashi, Mahdi;
Kahrizi, Kimia;
Vandevelde, Ann;
Alasti, Fatemeh;
Najmabadi, Hossein;
Van Camp, Guy;
Smith, Richard J. H.

Publication type:

Article

Mutation identification and characterization of a Taiwanese patient with fucosidosis.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 6, p. 553, doi. 10.1007/s10038-007-0136-3

By:

Shuan-Pei Lin;
Jui-Hung Chang;
de la Cadena, Maria Paez;
Ting-Fang Chang;
Guey-Jen Lee-Chen

Publication type:

Article

Gap junction coding genes and schizophrenia: a genetic association study.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 6, p. 498, doi. 10.1007/s10038-007-0142-5

By:

Aleksic, Branko;
Ishihara, Ryoko;
Takahashi, Nagahide;
Maeno, Nobuhisa;
Ji, Xiaofei;
Saito, Shinichi;
Inada, Toshiya;
Ozaki, Norio

Publication type:

Article

Genetic determination in onset age of wrist fracture.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 6, p. 481, doi. 10.1007/s10038-007-0141-6

By:

Donghai Xiong;
Wei Wang;
Yuan Chen;
Hui Jiang;
Hong-Wen Deng

Publication type:

Article

Further evidence of genetic heterogeneity in Costello syndrome: involvement of the KRAS gene.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 6, p. 521, doi. 10.1007/s10038-007-0146-1

By:

Bertola, Débora Romeo;
Pereira, Alexandre Costa;
Brasil, Amanda Salem;
Albano, Lilian Maria José;
Chong Ae Kim;
Krieger, José Eduardo

Publication type:

Article

Failure to confirm association between PDCD1 polymorphisms and rheumatoid arthritis in a Japanese population.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 6, p. 557, doi. 10.1007/s10038-007-0145-2

By:

Iwamoto, Takuji;
Ikari, Katsunori;
Inoue, Eisuke;
Toyama, Yoshiaki;
Hara, Masako;
Yamanaka, Hisashi;
Tomatsu, Taisuke;
Momohara, Shigeki;
Kamatani, Naoyuki

Publication type:

Article

A syndactyly type IV locus maps to 7q36.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 6, p. 561, doi. 10.1007/s10038-007-0150-5

By:

Sato, Daisuke;
Desheng Liang;
Lingqian Wu;
Qian Pan;
Kun Xia;
Heping Dai;
Wang, Hua;
Nishimura, Gen;
Yoshiura, Koh-Ichiro;
Jiahui Xia;
Niikawa, Norio

Publication type:

Article

Mutation of junctophilin type 2 associated with hypertrophic cardiomyopathy.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 6, p. 543, doi. 10.1007/s10038-007-0149-y

By:

Matsushita, Yoshihisa;
Furukawa, Toru;
Kasanuki, Hiroshi;
Nishibatake, Makoto;
Kurihara, Yachiyo;
Ikeda, Atsushi;
Kamatani, Naoyuki;
Takeshima, Hiroshi;
Matsuoka, Rumiko

Publication type:

Article

Polymorphisms of glutathione S-transferase M1, T1 and P1 in patients with reflux esophagitis and Barrett’s esophagus.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 6, p. 527, doi. 10.1007/s10038-007-0148-z

By:

Kala, Zdenek;
Dolina, Jiří;
Marek, Filip Izakovicova;
Izakovicova Holla, Lydie

Publication type:

Article

The 894G>T variant in the endothelial nitric oxide synthase gene and spina bifida risk.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 6, p. 516, doi. 10.1007/s10038-007-0147-0

By:

van der Linden, Ivon J. M.;
Heil, Sandra G.;
den Heijer, Martin;
Blom, Henk J.

Publication type:

Article

Association of KIT gene polymorphisms with bone mineral density in postmenopausal Korean women.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 6, p. 502, doi. 10.1007/s10038-007-0143-4

By:

Shin-Yoon Kim;
Jong-Young Lee;
Ha Young Kim;
Bermseok Oh;
Kuchan Kimm;
Hyung-Lae Kim;
Byung Lae Park;
Hyoung Doo Shin;
Eui Kyun Park;
Jung-Min Koh;
Ghi Su Kim

Publication type:

Article

Mutations in the WFS1 gene are a frequent cause of autosomal dominant nonsyndromic low-frequency hearing loss in Japanese.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 6, p. 510, doi. 10.1007/s10038-007-0144-3

By:

Fukuoka, Hisakuni;
Kanda, Yukihiko;
Ohta, Shuji;
Usami, Shin-ichi

Publication type:

Article

Retinoblastoma and mental retardation microdeletion syndrome: clinical characterization and molecular dissection using array CGH.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 6, p. 535, doi. 10.1007/s10038-007-0151-4

By:

Caselli, R.;
Speciale, C.;
Pescucci, C.;
Uliana, V.;
Sampieri, K.;
Bruttini, M.;
Longo, I.;
Francesco, S.;
Pramparo, T.;
Zuffardi, O.;
Frezzotti, R.;
Acquaviva, A.;
Hadjistilianou, T.;
Renieri, A.;
Mari, F.

Publication type:

Article

Identification of a novel GPR143 mutation in a large Chinese family with congenital nystagmus as the most prominent and consistent manifestation.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 6, p. 565, doi. 10.1007/s10038-007-0152-3

By:

Jing Yu Liu;
Xiang Ren;
Xiufeng Yang;
Tangying Guo;
Qi Yao;
Lin Li;
Xiaohua Dai;
Mingchang Zhang;
Lejin Wang;
Mugen Liu;
Qing Wang

Publication type:

Article

An 11-bp duplication in the promoter region of the VHL gene in a patient with cerebellar hemangioblastoma and renal oncocytoma.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 6, p. 485, doi. 10.1007/s10038-007-0138-1

By:

Muscarella, Lucia Ann;
Barbano, Raffaela;
Augello, Bartolomeo;
Formica, Vincenza;
Micale, Lucia;
Zelante, Leopoldo;
D'Agruma, Leonardo;
Merla, Giuseppe

Publication type:

Article