Works matching IS 03406717 AND DT 2005 AND VI 116 AND IP 3

Results: 15

Exclusion of the C/D box snoRNA gene clusterHBII-52from a major role in Prader-Willi syndrome.

Published in:

Human Genetics, 2005, v. 116, n. 3, p. 228, doi. 10.1007/s00439-004-1219-2

By:

Runte, Maren;
Varon, Raymonda;
Horn, Denise;
Horsthemke, Bernhard;
Buiting, Karin

Publication type:

Article

Current status of the E23K Kir6.2 polymorphism: implications for type-2 diabetes.

Published in:

Human Genetics, 2005, v. 116, n. 3, p. 133, doi. 10.1007/s00439-004-1216-5

By:

Riedel, Michael J.;
Steckley, Diana C.;
Light, Peter E.

Publication type:

Article

Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L.

Published in:

Human Genetics, 2005, v. 116, n. 3, p. 222, doi. 10.1007/s00439-004-1218-3

By:

Tang, Bei-sha;
Zhao, Guo-hua;
Luo, Wei;
Xia, Kun;
Cai, Fang;
Pan, Qian;
Zhang, Ru-xu;
Zhang, Fu-feng;
Liu, Xiao-min;
Chen, Biao;
Zhang, Cheng;
Shen, Lu;
Jiang, Hong;
Long, Zhi-gao;
Dai, He-ping

Publication type:

Article

An atypical form of erythrokeratodermia variabilis maps to chromosome 7q22.

Published in:

Human Genetics, 2005, v. 116, n. 3, p. 167, doi. 10.1007/s00439-004-1193-8

By:

Saba, Thomas G.;
Montpetit, Alexandre;
Verner, Andrei;
Rioux, Pierre;
Hudson, Thomas J.;
Drouin, Régen;
Drouin, Christian A.

Publication type:

Article

Variation in meiotic recombination frequencies among human males.

Published in:

Human Genetics, 2005, v. 116, n. 3, p. 172, doi. 10.1007/s00439-004-1215-6

By:

Sun, Fei;
Trpkov, Kiril;
Rademaker, Alfred;
Ko, Evelyn;
Martin, Renée H.

Publication type:

Article

The (GT)<sub> n</sub> polymorphism and haplotype of theCOL1A2gene, but not the (AAAG)<sub> n</sub> polymorphism of thePTHR1gene, are associated with bone mineral density in Chinese.

Published in:

Human Genetics, 2005, v. 116, n. 3, p. 200, doi. 10.1007/s00439-004-1225-4

By:

Lei, Shu-Feng;
Deng, Fei-Yan;
Dvornyk, Volodymyr;
Liu, Man-Yuan;
Xiao, Su-Mei;
Jiang, De-Ke;
Deng, Hong-Wen

Publication type:

Article

Confirmation of the HPCX prostate cancer predisposition locus in large Utah prostate cancer pedigrees.

Published in:

Human Genetics, 2005, v. 116, n. 3, p. 179, doi. 10.1007/s00439-004-1220-9

By:

Farnham, James M.;
Camp, Nicola J.;
Swensen, Jeff;
Tavtigian, Sean V.;
Albright, Lisa A. Cannon

Publication type:

Article

Mutational hot spot in the DSPP gene causing dentinogenesis imperfecta type II.

Published in:

Human Genetics, 2005, v. 116, n. 3, p. 186, doi. 10.1007/s00439-004-1223-6

By:

Kim, Jung-Wook;
Hu, Jan C-C;
Lee, Jae-Il;
Moon, Sung-Kwon;
Kim, Young-Jae;
Jang, Ki-Taeg;
Lee, Sang-Hoon;
Kim, Chong-Chul;
Hahn, Se-Hyun;
Simmer, James P.

Publication type:

Article

Association of a2-HS glycoprotein (AHSG, fetuin-A) polymorphism with AHSG and phosphate serum levels.

Published in:

Human Genetics, 2005, v. 116, n. 3, p. 146, doi. 10.1007/s00439-004-1222-7

By:

Osawa, Motoki;
Tian, Wei;
Horiuchi, Hidekazu;
Kaneko, Mika;
Umetsu, Kazuo

Publication type:

Article

Ala45Thrpolymorphism of theNEUROD1gene and diabetes susceptibility: a meta-analysis.

Published in:

Human Genetics, 2005, v. 116, n. 3, p. 192, doi. 10.1007/s00439-004-1224-5

By:

Kavvoura, Fotini K.;
Ioannidis, John P. A.

Publication type:

Article

TheUSH1C216G?A splice-site mutation results in a 35-base-pair deletion.

Published in:

Human Genetics, 2005, v. 116, n. 3, p. 225, doi. 10.1007/s00439-004-1217-4

By:

Lentz, Jennifer;
Savas, Sevtap;
Ng, San-San;
Athas, Grace;
Deininger, Prescott;
Keats, Bronya

Publication type:

Article

Ocular refraction: heritability and genome-wide search for eye morphometry traits in an isolated Sardinian population.

Published in:

Human Genetics, 2005, v. 116, n. 3, p. 152, doi. 10.1007/s00439-004-1231-6

By:

Biino, Ginevra;
Palmas, Maria Antonietta;
Corona, Carla;
Prodi, Dionigio;
Fanciulli, Manuela;
Sulis, Roberta;
Serra, Antonina;
Fossarello, Maurizio;
Pirastu, Mario

Publication type:

Article

Oligogenic combinations associated with breast cancer risk in women under 53 years of age.

Published in:

Human Genetics, 2005, v. 116, n. 3, p. 208, doi. 10.1007/s00439-004-1206-7

By:

Aston, Christopher E.;
Ralph, David A.;
Lalo, Dominique P.;
Manjeshwar, Sharmila;
Gramling, Bobby A.;
DeFreese, Daniele C.;
West, Amy D.;
Branam, Dannielle E.;
Thompson, Linda F.;
Craft, Melissa A.;
Mitchell, Debra S.;
Shimasaki, Craig D.;
Mulvihill, John J.;
Jupe, Eldon R.

Publication type:

Article

Expression studies of mutations underlying Taiwanese Hunter syndrome (mucopolysaccharidosis type II).

Published in:

Human Genetics, 2005, v. 116, n. 3, p. 160, doi. 10.1007/s00439-004-1234-3

By:

Chang, Jui-Hung;
Lin, Shuan-Pei;
Lin, Shu-Chuan;
Tseng, Kai-Li;
Li, Chia-Ling;
Chuang, Chih-Kuang;
Lee-Chen, Guey-Jen

Publication type:

Article

Human Gene Mutations.

Published in:: Human Genetics, 2005, v. 116, n. 3, p. 231, doi. 10.1007/s00439-004-1226-3
Publication type:: Article