Works matching IS 14345161 AND DT 2009 AND VI 54 AND IP 7

Results: 13

Mutation analysis of COX18 in 29 patients with isolated cytochrome c oxidase deficiency.

Published in:

Journal of Human Genetics, 2009, v. 54, n. 7, p. 419, doi. 10.1038/jhg.2009.36

By:

Sacconi, Sabrina;
Salviati, Leonardo;
Trevisson, Eva

Publication type:

Article

Clinical and genetic characterization of 16q-linked autosomal dominant spinocerebellar ataxia in South Kyushu, Japan.

Published in:

Journal of Human Genetics, 2009, v. 54, n. 7, p. 377, doi. 10.1038/jhg.2009.44

By:

Hirano, Ryuki;
Takashima, Hiroshi;
Okubo, Ryuichi;
Okamoto, Yuji;
Maki, Yoshimitsu;
Ishida, Shimon;
Suehara, Masahito;
Hokezu, Youichi;
Arimura, Kimiyoshi

Publication type:

Article

Novel OTOF mutations in Brazilian patients with auditory neuropathy.

Published in:

Journal of Human Genetics, 2009, v. 54, n. 7, p. 382, doi. 10.1038/jhg.2009.45

By:

Romanos, Jihane;
Kimura, Lilian;
Fávero, Mariana Lopes;
Izarra, Fernanda Attanasio R.;
de Mello Auricchio, Maria Teresa Balester;
Batissoco, Ana Carla;
Lezirovitz, Karina;
Abreu-Silva, Ronaldo Serafim;
Mingroni-Netto, Regina Célia

Publication type:

Article

Analysis of a t(18;21)(p11.1;p11.1) translocation in a family with schizophrenia.

Published in:

Journal of Human Genetics, 2009, v. 54, n. 7, p. 386, doi. 10.1038/jhg.2009.47

By:

Meerabux, Joanne M. A.;
Ohba, Hisako;
Iwayama, Yoshimi;
Maekawa, Motoko;
Detera-Wadleigh, Sevilla D.;
DeLisi, Lynn E.;
Yoshikawa, Takeo

Publication type:

Article

A novel single-base deletion in ROR2 causes atypical brachydactyly type B1 with cutaneous syndactyly in a large Chinese family.

Published in:

Journal of Human Genetics, 2009, v. 54, n. 7, p. 422, doi. 10.1038/jhg.2009.48

By:

Lv, Dan;
Yang Luo;
Wei Yang;
Lihua Cao;
Yaran Wen;
Xiuli Zhao;
Miao Sun;
Lo, Wilson H.-Y.;
Xue Zhang

Publication type:

Article

A genome-wide association study identifies ITGA9 conferring risk of nasopharyngeal carcinoma.

Published in:

Journal of Human Genetics, 2009, v. 54, n. 7, p. 392, doi. 10.1038/jhg.2009.49

By:

Ching Ching Ng;
Poh Yin Yew;
Suat Moi Puah;
Krishnan, Gopala;
Yap, Lee Fah;
Soo Hwang Teo;
Lim, Paul Vey Hong;
Govindaraju, Selvaratnam;
Ratnavelu, Kananathan;
Choon Kook Sam;
Takahashi, Atsushi;
Kubo, Michiaki;
Kamatani, Naoyuki;
Nakamura, Yusuke;
Mushiroda, Taisei

Publication type:

Article

High frequency of the V548A fs X572 XPC mutation in Tunisia: implication for molecular diagnosis.

Published in:

Journal of Human Genetics, 2009, v. 54, n. 7, p. 426, doi. 10.1038/jhg.2009.50

By:

Rekaya, M. Ben;
Messaoud, O.;
Talmoudi, F.;
Nouira, S.;
Ouragini, H.;
Amouri, A.;
Boussen, H.;
Boubaker, S.;
Mokni, M.;
Mokthar, I.;
Abdelhak, S.;
Zghal, M.

Publication type:

Article

Nevoid basal cell carcinoma syndrome with cleft lip and palate associated with the novel PTCH gene mutations.

Published in:

Journal of Human Genetics, 2009, v. 54, n. 7, p. 398, doi. 10.1038/jhg.2009.51

By:

Sasaki, Ryo;
Saito, Kayoko;
Watanabe, Yorikatsu;
Takayama, Yoshinaga;
Fujii, Katsunori;
Agawa, Kaori;
Miyashita, Toshiyuki;
Ando, Tomohiro;
Akizuki, Tanetaka

Publication type:

Article

A two-stage case–control association study of PADI2 with schizophrenia.

Published in:

Journal of Human Genetics, 2009, v. 54, n. 7, p. 430, doi. 10.1038/jhg.2009.52

By:

Watanabe, Yuichiro;
Nunokawa, Ayako;
Kaneko, Naoshi;
Arinami, Tadao;
Ujike, Hiroshi;
Inada, Toshiya;
Iwata, Nakao;
Kunugi, Hiroshi;
Itokawa, Masanari;
Otowa, Takeshi;
Ozaki, Norio;
Someya, Toshiyuki

Publication type:

Article

The E23K variation in the KCNJ11 gene is associated with type 2 diabetes in Chinese and East Asian population.

Published in:

Journal of Human Genetics, 2009, v. 54, n. 7, p. 433, doi. 10.1038/jhg.2009.54

By:

Daizhan Zhou;
Di Zhang;
Yun Liu;
Teng Zhao;
Zhuo Chen;
Zhe Liu;
Lan Yu;
Zuofeng Zhang;
He Xu;
Lin He

Publication type:

Article

Germline PTCH1 mutations in Japanese basal cell nevus syndrome patients.

Published in:

Journal of Human Genetics, 2009, v. 54, n. 7, p. 403, doi. 10.1038/jhg.2009.55

By:

Takahashi, Chiaki;
Kanazawa, Nozomi;
Yoshikawa, Yoshie;
Yoshikawa, Reigetsu;
Saitoh, Yuko;
Chiyo, Hideaki;
Tanizawa, Takakuni;
Hashimoto-Tamaoki, Tomoko;
Nakano, Yoshiro

Publication type:

Article

Allele frequencies of the ABCC11 gene for earwax phenotypes among ancient populations of Hokkaido, Japan.

Published in:

Journal of Human Genetics, 2009, v. 54, n. 7, p. 409, doi. 10.1038/jhg.2009.56

By:

Sato, Takehiro;
Amano, Tetsuya;
Ono, Hiroko;
Ishida, Hajime;
Kodera, Haruto;
Matsumura, Hirofumi;
Yoneda, Minoru;
Masuda, Ryuichi

Publication type:

Article

MTHFR polymorphisms, dietary folate intake and breast cancer risk in Chinese women.

Published in:

Journal of Human Genetics, 2009, v. 54, n. 7, p. 414, doi. 10.1038/jhg.2009.57

By:

Chang-Ming Gao;
Jin-Hai Tang;
Hai-Xia Cao;
Jian-Hua Ding;
Jian-Zhong Wu;
Jie Wang;
Yan-Ting Liu;
Su-Ping Li;
Ping Su;
Keitaro Matsuo;
Toshiro Takezaki;
Kazuo Tajima

Publication type:

Article