Works matching IS 14345161 AND DT 2006 AND VI 51 AND IP 3

Results: 17

Quantitative trait loci in ABCA1 modify cerebrospinal fluid amyloid-β<sub>1-42</sub> and plasma apolipoprotein levels.

Published in:

Journal of Human Genetics, 2006, v. 51, n. 3, p. 171, doi. 10.1007/s10038-005-0341-x

By:

Katzov, Hagit;
Bennet, Anna M.;
Hőglund, Kina;
Wiman, Bjőrn;
Lütjohann, Dieter;
Brookes, Anthony J.;
Andreasen, Niels;
Blennow, Kaj;
De Faire, Ulf;
Prince, Jonathan A.

Publication type:

Article

Comparison of the effects of agalsidase alfa and agalsidase beta on cultured human Fabry fibroblasts and Fabry mice.

Published in:

Journal of Human Genetics, 2006, v. 51, n. 3, p. 180, doi. 10.1007/s10038-005-0342-9

By:

Sakuraba, Hitoshi;
Murata-Ohsawa, Mai;
Kawashima, Ikuo;
Tajima, Youichi;
Kotani, Masaharu;
Ohshima, Toshio;
Chiba, Yasunori;
Takashiba, Minako;
Jigami, Yoshifumi;
Fukushige, Tomoko;
Kanzaki, Tamotsu;
Itoh, Kohji

Publication type:

Article

The CAG repeat at the Huntington disease gene in the Portuguese population: insights into its dynamics and to the origin of the mutation.

Published in:

Journal of Human Genetics, 2006, v. 51, n. 3, p. 189, doi. 10.1007/s10038-005-0343-8

By:

do Carmo Costa, Maria;
Magalhães, Paula;
Guimarães, Laura;
Maciel, Patrícia;
Sequeiros, Jorge;
Sousa, Alda

Publication type:

Article

Polymorphism in the 3′-untranslated region of the thymidylate synthase gene and sensitivity of stomach cancer to fluoropyrimidine-based chemotherapy.

Published in:

Journal of Human Genetics, 2006, v. 51, n. 3, p. 155, doi. 10.1007/s10038-005-0339-4

By:

Jian-Wei Lu;
Chang-Ming Gao;
Jian-Zhong Wu;
Hai-Xia Cao;
Kazuo Tajima;
Ji-Feng Feng

Publication type:

Article

De novo COX2 mutation in a LHON family of Caucasian origin: implication for the role of mtDNA polymorphism in human pathology.

Published in:

Journal of Human Genetics, 2006, v. 51, n. 3, p. 161, doi. 10.1007/s10038-005-0340-y

By:

Zhadanov, Sergey I.;
Atamanov, Vasiliy V.;
Zhadanov, Nikolay I.;
Schurr, Theodore G.

Publication type:

Article

Association of IL8, CXCR2 and TNF-α polymorphisms and airway disease.

Published in:

Journal of Human Genetics, 2006, v. 51, n. 3, p. 196, doi. 10.1007/s10038-005-0344-7

By:

Matheson, Melanie C.;
Ellis, Justine A.;
Raven, Joan;
Haydn Walters, E.;
Abramson, Michael J.

Publication type:

Article

Expression of the Snurf–Snrpn IC transcript in the oocyte and its putative role in the imprinting establishment of the mouse 7C imprinting domain.

Published in:

Journal of Human Genetics, 2006, v. 51, n. 3, p. 236, doi. 10.1007/s10038-005-0351-8

By:

Mapendano, Christophe K.;
Kishino, Tatsuya;
Miyazaki, Kazumi;
Kondo, Shinji;
Yoshiura, Koh-ichiro;
Hishikawa, Yoshitaka;
Koji, Takehiko;
Niikawa, Norio;
Ohta, Tohru

Publication type:

Article

Austronesian origin of the 27-bp deletion of the erythrocyte band 3 gene in East Sepik, Papua New Guinea inferred from mtDNA analysis.

Published in:

Journal of Human Genetics, 2006, v. 51, n. 3, p. 244, doi. 10.1007/s10038-005-0352-7

By:

Tsukahara, Takahiro;
Hombhanje, Francis Wanak;
Koji Lum, Jeffrey;
Hwaihwanje, Ilomo;
Masta, Andrew;
Kaneko, Akira;
Kobayakawa, Takatoshi

Publication type:

Article

Axis inhibition protein 2 ( AXIN2) polymorphisms may be a risk factor for selective tooth agenesis.

Published in:

Journal of Human Genetics, 2006, v. 51, n. 3, p. 262, doi. 10.1007/s10038-005-0353-6

By:

Mostowska, Adrianna;
Biedziak, Barbara;
Jagodzinski, Pawel P.

Publication type:

Article

Association of VKORC1 and CYP2C9 polymorphisms with warfarin dose requirements in Japanese patients.

Published in:

Journal of Human Genetics, 2006, v. 51, n. 3, p. 249, doi. 10.1007/s10038-005-0354-5

By:

Mushiroda, Taisei;
Ohnishi, Yozo;
Saito, Susumu;
Takahashi, Atsushi;
Kikuchi, Yuka;
Saito, Shigeru;
Shimomura, Hideki;
Wanibuchi, Yasuhiko;
Suzuki, Takao;
Kamatani, Naoyuki;
Nakamura, Yusuke

Publication type:

Article

South Indian men with reduced CAG repeat length in the androgen receptor gene have an increased risk of prostate cancer.

Published in:

Journal of Human Genetics, 2006, v. 51, n. 3, p. 254, doi. 10.1007/s10038-005-0346-5

By:

Krishnaswamy, Vijayalakshmi;
Kumarasamy, Thangaraj;
Venkatesan, Vettriselvi;
Shroff, Sunil;
Jayanth, Vikram R.;
Paul, Solomon F. D.

Publication type:

Article

A misquoted mutation in exon16 of the BRCA2 gene.

Published in:

Journal of Human Genetics, 2006, v. 51, n. 3, p. 258, doi. 10.1007/s10038-005-0347-4

By:

Kataki, Agapi;
Derventzi, Anastasia;
Gomatos, Ilias;
Konstadoulakis, Manoussos M.

Publication type:

Article

Denaturing high-performance liquid chromatography screening of the long QT syndrome-related cardiac sodium and potassium channel genes and identification of novel mutations and single nucleotide polymorphisms.

Published in:

2006

By:

Ling-Ping Lai;
Yi-Ning Su;
Fon-Jou Hsieh;
Fu-Tien Chiang;
Jyh-Ming Juang;
Yen-Bin Liu;
Yi-Lwun Ho;
Wen-Jone Chen;
San-Jou Yeh;
Chun-Chieh Wang;
Yu-Lin Ko;
Tsu-Juey Wu;
Kwo-Chang Ueng;
Meng-Huan Lei;
Hsuan-Ming Tsao;
Shih-Ann Chen;
Tin-Kwang Lin;
Mei-Hwan Wu;
Huey-Ming Lo;
Stephen Huang, Shoei K.

Publication type:

Correction Notice

Biochemical data in ornithine transcarbamylase deficiency (OTCD) carrier risk estimation: logistic discrimination and combination with genetic information.

Published in:

Journal of Human Genetics, 2006, v. 51, n. 3, p. 204, doi. 10.1007/s10038-005-0345-6

By:

Oexle, Konrad

Publication type:

Article

Molecular insights into the origins of the Shompen, a declining population of the Nicobar archipelago.

Published in:

Journal of Human Genetics, 2006, v. 51, n. 3, p. 217, doi. 10.1007/s10038-005-0349-2

By:

Trivedi, Rajni;
Sitalaximi, T.;
Banerjee, Jheelam;
Singh, Anamika;
Sircar, P.K.;
Kashyap, V.K.

Publication type:

Article

Mutational screening of the RB1 gene in Italian patients with retinoblastoma reveals 11 novel mutations.

Published in:

Journal of Human Genetics, 2006, v. 51, n. 3, p. 209, doi. 10.1007/s10038-005-0348-3

By:

Sampieri, Katia;
Hadjistilianou, Theodora;
Mari, Francesca;
Speciale, Caterina;
Mencarelli, Maria Antonietta;
Cetta, Francesco;
Manoukian, Siranoush;
Peissel, Bernard;
Giachino, Daniela;
Pasini, Barbara;
Acquaviva, Antonio;
Caporossi, Aldo;
Frezzotti, Renato;
Renieri, Alessandra;
Bruttini, Mirella

Publication type:

Article

A rapid and reliable detection system for the analysis of PMP22 gene dosage by MP/DHPLC assay.

Published in:

Journal of Human Genetics, 2006, v. 51, n. 3, p. 227, doi. 10.1007/s10038-005-0350-9

By:

Chia-Yun Lin;
Yi-Ning Su;
Chien-Nan Lee;
Chia-Cheng Hung;
Wen-Fang Cheng;
Win-Li Lin;
Chi-An Chen;
Sung-Tsang Hsieh

Publication type:

Article