Works matching IS 14345161 AND DT 2007 AND VI 52 AND IP 3

Results: 10

Mutations of KCNJ2 gene associated with Andersen–Tawil syndrome in Korean families.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 3, p. 280, doi. 10.1007/s10038-006-0100-7

By:

Byung-Ok Choi;
Joonki Kim;
Bum Suh;
Jin Yu;
Il Sunwoo;
Song Kim;
Gwang Kim;
Ki Chung

Publication type:

Article

Association of gene polymorphism with genetic susceptibility to stroke in Asian populations: a meta-analysis.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 3, p. 205, doi. 10.1007/s10038-006-0098-x

By:

Banerjee, Indranil;
Gupta, Veena;
Ganesh, Subramaniam

Publication type:

Article

Hereditary prosopagnosia (HPA): the first report outside the Caucasian population.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 3, p. 230, doi. 10.1007/s10038-006-0101-6

By:

Kennerknecht, Ingo;
Plümpe, Nina;
Edwards, Steve;
Raman, Rajiva

Publication type:

Article

A functional SNP in ITIH3 is associated with susceptibility to myocardial infarction.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 3, p. 220, doi. 10.1007/s10038-006-0102-5

By:

Ebana, Yusuke;
Ozaki, Kouichi;
Inoue, Katsumi;
Sato, Hiroshi;
Iida, Aritoshi;
Lwin, Htay;
Saito, Susumu;
Mizuno, Hiroya;
Takahashi, Atsushi;
Nakamura, Takahiro;
Miyamoto, Yoshinari;
Ikegawa, Shiro;
Odashiro, Keita;
Nobuyoshi, Masakiyo;
Kamatani, Naoyuki;
Hori, Masatsugu;
Isobe, Mitsuaki;
Nakamura, Yusuke;
Tanaka, Toshihiro

Publication type:

Article

Three novel mutations in the activin receptor-like kinase 1 (ALK-1) gene in hereditary hemorrhagic telangiectasia type 2 in Brazilian patients.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 3, p. 237, doi. 10.1007/s10038-006-0104-3

By:

Assis, A.;
Costa, F.;
Arruda, V.;
Annichino-Bizzacchi, J.;
Bertuzzo, C.

Publication type:

Article

Frequency of the LRRK2 G2019S mutation in Italian patients affected by Parkinson's disease.

Published in:

2007

By:

Squillaro, Tiziana;
Cambi, Franca;
Ciacci, Giuseppe;
Rossi, Simone;
Ulivelli, Monica;
Malandrini, Alessandro;
Mencarelli, Maria;
Mari, Francesca;
Renieri, Alessandra;
Ariani, Francesca

Publication type:

Letter

A missense mutation in the chloride/proton ClC-5 antiporter gene results in increased expression of an alternative mRNA form that lacks exons 10 and 11. Identification of seven new CLCN5 mutations in patients with Dent’s disease.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 3, p. 255, doi. 10.1007/s10038-007-0112-y

By:

Ramos-Trujillo, Elena;
González-Acosta, Hilaria;
Flores, Carlos;
García-Nieto, Víctor;
Guillén, Encarna;
Gracia, Salvador;
Vicente, Carmen;
Espinosa, Laura;
Maseda, Maria;
Santos, Fernando;
Camacho, Juan;
Claverie-Martín, Félix

Publication type:

Article

Genetic heterogeneity of megaloblastic anaemia type 1 in Tunisian patients.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 3, p. 262, doi. 10.1007/s10038-007-0110-0

By:

Bouchlaka, Chiraz;
Maktouf, Chokri;
Mahjoub, Bahri;
Ayadi, Abdelkarim;
Sfar, M.;
Sioud, Mahbouba;
Gueddich, Neji;
Belhadjali, Zouheir;
Rebaï, Ahmed;
Abdelhak, Sonia;
Dellagi, Koussay

Publication type:

Article

Functional pathway characterized by gene expression analysis of supraclavicular lymph node metastasis-positive breast cancer.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 3, p. 271, doi. 10.1007/s10038-007-0111-z

By:

Oishi, Yoko;
Nagasaki, Koichi;
Miyata, Satoshi;
Matsuura, Masaaki;
Nishimura, Sei-ichiro;
Akiyama, Futoshi;
Iwai, Takehisa;
Miki, Yoshio

Publication type:

Article

The combination of ApoCIII, hepatic lipase and hormono sensitive lipase gene polymorphisms suggests an association with susceptibility to gestational hypertension.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 3, p. 244, doi. 10.1007/s10038-006-0106-1

By:

Bernard, Nathalie;
Girouard, Joël;
Forest, Jean-Claude;
Giguère, Yves

Publication type:

Article