Works matching IS 14345161 AND DT 2011 AND VI 56 AND IP 9

Results: 12

Autosomal recessive deafness 1A (DFNB1A) in Yakut population isolate in Eastern Siberia: extensive accumulation of the splice site mutation IVS1+1G>A in GJB2 gene as a result of founder effect.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 9, p. 631, doi. 10.1038/jhg.2011.72

By:

Barashkov, Nikolay A;
Dzhemileva, Lilya U;
Fedorova, Sardana A;
Teryutin, Fedor M;
Posukh, Olga L;
Fedotova, Elvira E;
Lobov, Simeon L;
Khusnutdinova, Elza K

Publication type:

Article

Mutation analysis of 73 southern Chinese Wilson's disease patients: identification of 10 novel mutations and its clinical correlation.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 9, p. 660, doi. 10.1038/jhg.2011.76

By:

Wang, Li-Hua;
Huang, Ye-Qing;
Shang, Xuan;
Su, Quan-Xi;
Xiong, Fu;
Yu, Qing-Yun;
Lin, Hui-Ping;
Wei, Zhi-Sheng;
Hong, Ming-Fan;
Xu, Xiang-Min

Publication type:

Article

Association of a synonymous GAT3 polymorphism with antiepileptic drug pharmacoresistance.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 9, p. 640, doi. 10.1038/jhg.2011.73

By:

Kim, Dong-Uk;
Kim, Myeong-Kyu;
Cho, Yong-Won;
Kim, Yo-Sik;
Kim, Won-Joo;
Lee, Min Goo;
Kim, Sung Eun;
Nam, Tai-Seung;
Cho, Ki-Hyun;
Kim, Young-Ok;
Lee, Min-Cheol

Publication type:

Article

Different contributions of ancient mitochondrial and Y-chromosomal lineages in 'Karretjie people' of the Great Karoo in South Africa.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 9, p. 623, doi. 10.1038/jhg.2011.71

By:

Schlebusch, Carina M;
de Jongh, Michael;
Soodyall, Himla

Publication type:

Article

p53 Arg72Pro and MDM2 309 SNPs in hereditary retinoblastoma.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 9, p. 685, doi. 10.1038/jhg.2011.82

By:

Epistolato, Maria Carmela;
Disciglio, Vittoria;
Livide, Gabriella;
Berchialla, Paola;
Mencarelli, Maria Antonietta;
Marozza, Annabella;
Amenduni, Mariangela;
Hadjistilianou, Theodora;
De Francesco, Sonia;
Acquaviva, Antonio;
Toti, Paolo;
Cetta, Francesco;
Ariani, Francesca;
De Marchi, Mario;
Renieri, Alessandra;
Giachino, Daniela

Publication type:

Article

Genetic variation in phosphodiesterase (PDE) 7B in chronic lymphocytic leukemia: overview of genetic variants of cyclic nucleotide PDEs in human disease.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 9, p. 676, doi. 10.1038/jhg.2011.80

By:

Peiró, Ana M;
Tang, Chih-Min;
Murray, Fiona;
Zhang, Lingzhi;
Brown, Loren M;
Chou, Daisy;
Rassenti, Laura;
Kipps, Thomas A;
Insel, Paul A

Publication type:

Article

Genetic association analysis of TAP1 and TAP2 polymorphisms with aspirin exacerbated respiratory disease and its FEV1 decline.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 9, p. 652, doi. 10.1038/jhg.2011.75

By:

Kim, Jeong-Hyun;
Park, Byung-Lae;
Pasaje, Charisse Flerida A;
Bae, Joon Seol;
Park, Jong Sook;
Park, Sung Woo;
Uh, Soo-Taek;
Kim, Mi-Kyeong;
Choi, Inseon S;
Cho, Sang Heon;
Choi, Byoung Whui;
Park, Choon-Sik;
Shin, Hyoung Doo

Publication type:

Article

Screening of genetic variations of SLC15A2, SLC22A1, SLC22A2 and SLC22A6 genes.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 9, p. 666, doi. 10.1038/jhg.2011.77

By:

Cheong, Hyun Sub;
Kim, Hae Deun;
Na, Han Sung;
Kim, Ji On;
Kim, Lyoung Hyo;
Kim, Seung Hee;
Bae, Joon Seol;
Chung, Myeon Woo;
Shin, Hyoung Doo

Publication type:

Article

Comprehensive mutational analysis of LRRK2 reveals variants supporting association with autosomal dominant Parkinson's disease.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 9, p. 671, doi. 10.1038/jhg.2011.79

By:

Seki, Naomi;
Takahashi, Yuji;
Tomiyama, Hiroyuki;
Rogaeva, Ekaterina;
Murayama, Shigeo;
Mizuno, Yoshikuni;
Hattori, Nobutaka;
Marras, Connie;
Lang, Anthony E;
George-Hyslop, Peter St;
Goto, Jun;
Tsuji, Shoji

Publication type:

Article

Evaluation of next-generation sequencing software in mapping and assembly.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 9, p. 687, doi. 10.1038/jhg.2011.91

By:

Bao, SuYing;
Jiang, Rui;
Kwan, WingKeung;
Wang, BinBin;
Ma, Xu;
Song, You-Qiang

Publication type:

Article

Identification of two HEXA mutations causing infantile-onset Tay-Sachs disease in the Persian population.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 9, p. 682, doi. 10.1038/jhg.2011.78

By:

Haghighi, Alireza;
Rezazadeh, Jamileh;
Shadmehri, Azam Ahmadi;
Haghighi, Amirreza;
Kornreich, Ruth;
Desnick, Robert J

Publication type:

Article

Association of variations in the FTO, SCG3 and MTMR9 genes with metabolic syndrome in a Japanese population.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 9, p. 647, doi. 10.1038/jhg.2011.74

By:

Hotta, Kikuko;
Kitamoto, Takuya;
Kitamoto, Aya;
Mizusawa, Seiho;
Matsuo, Tomoaki;
Nakata, Yoshio;
Kamohara, Seika;
Miyatake, Nobuyuki;
Kotani, Kazuaki;
Komatsu, Ryoya;
Itoh, Naoto;
Mineo, Ikuo;
Wada, Jun;
Yoneda, Masato;
Nakajima, Atsushi;
Funahashi, Tohru;
Miyazaki, Shigeru;
Tokunaga, Katsuto;
Masuzaki, Hiroaki;
Ueno, Takato

Publication type:

Article