Journal of Human Genetics

Frequency of the LRRK2 G2019S mutation in Italian patients affected by Parkinson's disease
pp. 201-204(4)
Authors: Squillaro, Tiziana; Cambi, Franca; Ciacci, Giuseppe; Rossi, Simone; Ulivelli, Monica; Malandrini, Alessandro; Mencarelli, Maria; Mari, Francesca; Renieri, Alessandra; Ariani, Francesca

Association of gene polymorphism with genetic susceptibility to stroke in Asian populations: a meta-analysis
pp. 205-219(15)
Authors: Banerjee, Indranil; Gupta, Veena; Ganesh, Subramaniam

A functional SNP in ITIH3 is associated with susceptibility to myocardial infarction
pp. 220-229(10)
Authors: 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

Hereditary prosopagnosia (HPA): the first report outside the Caucasian population
pp. 230-236(7)
Authors: Kennerknecht, Ingo; Plümpe, Nina; Edwards, Steve; Raman, Rajiva

Three novel mutations in the activin receptor-like kinase 1 (ALK-1) gene in hereditary hemorrhagic telangiectasia type 2 in Brazilian patients
pp. 237-243(7)
Authors: Assis, A.; Costa, F.; Arruda, V.; Annichino-Bizzacchi, J.; Bertuzzo, C.

The combination of ApoCIII, hepatic lipase and hormono sensitive lipase gene polymorphisms suggests an association with susceptibility to gestational hypertension
pp. 244-254(11)
Authors: Bernard, Nathalie; Girouard, Joël; Forest, Jean-Claude; Giguère, Yves

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
pp. 255-261(7)
Authors: 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

Genetic heterogeneity of megaloblastic anaemia type 1 in Tunisian patients
pp. 262-270(9)
Authors: Bouchlaka, Chiraz; Maktouf, Chokri; Mahjoub, Bahri; Ayadi, Abdelkarim; Sfar, M.; Sioud, Mahbouba; Gueddich, Neji; Belhadjali, Zouheir; Rebaï, Ahmed; Abdelhak, Sonia; Dellagi, Koussay

Functional pathway characterized by gene expression analysis of supraclavicular lymph node metastasis-positive breast cancer
pp. 271-279(9)
Authors: Oishi, Yoko; Nagasaki, Koichi; Miyata, Satoshi; Matsuura, Masaaki; Nishimura, Sei-ichiro; Akiyama, Futoshi; Iwai, Takehisa; Miki, Yoshio

Mutations of KCNJ2 gene associated with Andersen-Tawil syndrome in Korean families
pp. 280-283(4)
Authors: Choi, Byung-Ok; Kim, Joonki; Suh, Bum; Yu, Jin; Sunwoo, Il; Kim, Song; Kim, Gwang; Chung, Ki