TABLE OF CONTENTS
Volume 51, Issue 8 (August 2006)
Original Articles
Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype
Maria do Carmo Costa, Andreia Teixeira-Castro, Marco Constante, Marina Magalhães, Paula Magalhães, Joana Cerqueira, José Vale, Vitorina Passão, Célia Barbosa, Conceição Robalo, Paula Coutinho, José Barros, Manuela M Santos, Jorge Sequeiros and Patrícia Maciel
J Hum Genet 51: 645-651; advance online publication, July 21, 2006; doi:10.1007/s10038-006-0001-9
The potential role of DFNA5, a hearing impairment gene, in p53-mediated cellular response to DNA damage
Yoshiko Masuda, Manabu Futamura, Hiroki Kamino, Yasuyuki Nakamura, Noriaki Kitamura, Shiho Ohnishi, Yuji Miyamoto, Hitoshi Ichikawa, Tsutomu Ohta, Misao Ohki, Tohru Kiyono, Hiroshi Egami, Hideo Baba and Hirofumi Arakawa
J Hum Genet 51: 652-664; advance online publication, August 2, 2006; doi:10.1007/s10038-006-0004-6
Follicle-stimulating hormone receptor gene polymorphism and ovarian responses to controlled ovarian hyperstimulation for IVF-ET
Jong Kwan Jun, Ji Sung Yoon, Seung-Yup Ku, Young Min Choi, Kyu Ri Hwang, Seo Young Park, Gyoung Hoon Lee, Won Don Lee, Seok Hyun Kim, Jung Gu Kim and Shin Yong Moon
J Hum Genet 51: 665-670; advance online publication, July 27, 2006; doi:10.1007/s10038-006-0005-5
MSX1 mutations contribute to nonsyndromic cleft lip in a Thai population
Siraprapa Tongkobpetch, Pichit Siriwan and Vorasuk Shotelersuk
J Hum Genet 51: 671-676; advance online publication, July 26, 2006; doi:10.1007/s10038-006-0006-4
An association between asthma and TNF-308G/A polymorphism: meta-analysis
Takeshi Aoki, Tomomitsu Hirota, Mayumi Tamari, Kunio Ichikawa, Kazunori Takeda, Tadao Arinami, Masanao Shibasaki and Emiko Noguchi
J Hum Genet 51: 677-685; advance online publication, July 25, 2006; doi:10.1007/s10038-006-0007-3
Protan color vision deficiency with a unique order of green-red as the first two genes of a visual pigment array
Hisao Ueyama, Shoko Tanabe, Sanae Muraki-Oda, Shinichi Yamade and Iwao Ohkubo
J Hum Genet 51: 686-694; advance online publication, July 28, 2006; doi:10.1007/s10038-006-0008-2
Cataracts, ataxia, short stature, and mental retardation in a Chinese family mapped to Xpter-q13.1
Xiangming Guo, Huangxuan Shen, Xueshan Xiao, Qilin Dai, Shiqiang Li, Xiaoyun Jia, J Fielding Hejtmancik and Qingjiong Zhang
J Hum Genet 51: 695-700; advance online publication, July 11, 2006; doi:10.1007/s10038-006-0009-1
Cockayne syndrome type A: novel mutations in eight typical patients
Debora R Bertola, Henian Cao, Lilian M J Albano, Daniela P Oliveira, Fernando Kok, Maria Joaquina Marques-Dias, Chong A Kim and Robert A Hegele
J Hum Genet 51: 701-705; advance online publication, July 25, 2006; doi:10.1007/s10038-006-0011-7
Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia
Yuichiro Hirose, Eiji Nakashima, Hirofumi Ohashi, Hiroshi Mochizuki, Yuki Bando, Tsutomu Ogata, Masanori Adachi, Emi Toba, Gen Nishimura and Shiro Ikegawa
J Hum Genet 51: 706-710; advance online publication, July 11, 2006; doi:10.1007/s10038-006-0015-3
Short Communications
Four mutations of the spastin gene in Japanese families with spastic paraplegia
Rehana Basri, Ichiro Yabe, Hiroyuki Soma, Asako Takei, Hiroyuki Nishimura, Yuka Machino, Yasumasa Kokubo, Masafumi Kosugi, Ryuichirou Okada, Motohiro Yukitake, Hisao Tachibana, Yasuo Kuroda, Shigeki Kuzuhara and Hidenao Sasaki
J Hum Genet 51: 711-715; advance online publication, June 21, 2006; doi:10.1007/s10038-006-0412-7
Is autosomal recessive deafness associated with oculocutaneous albinism a "coincidence syndrome"?
Karina Lezirovitz, Fernanda Stávale Nicastro, Eliete Pardono, Ronaldo Serafim Abreu-Silva, Ana Carla Batissoco, Isaac Neustein, Mauro Spinelli and Regina Célia Mingroni-Netto
J Hum Genet 51: 716-720; advance online publication, July 26, 2006; doi:10.1007/s10038-006-0003-7
Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1
David A Koolen, Jos Herbergs, Joris A Veltman, Rolph Pfundt, Hans van Bokhoven, Hans Stroink, Erik A Sistermans, Han G Brunner, Ad Geurts van Kessel and Bert B A de Vries
J Hum Genet 51: 721-726; advance online publication, July 25, 2006; doi:10.1007/s10038-006-0010-8
A novel heterozygous mutation in the Indian hedgehog gene (IHH) is associated with brachydactyly type A1 in a Chinese family
Mugen Liu, Xu Wang, Zhou Cai, Zhaohui Tang, Kangsheng Cao, Bo Liang, Xiang Ren, Jing Yu Liu and Qing K Wang
J Hum Genet 51: 727-731; advance online publication, July 27, 2006; doi:10.1007/s10038-006-0012-6
Characterization of a novel B(A) allele with BBBA type at the ABO blood group
Zhi-Hui Deng, Qiong Yu, Yan-Lian Liang, Da-Ming Wang, Yu-Qing Su and Guo-Guang Wu
J Hum Genet 51: 732-736; advance online publication, July 27, 2006; doi:10.1007/s10038-006-0013-5
Mutational screening of ARX gene in Brazilian males with mental retardation of unknown etiology
Raquel de Souza Gestinari-Duarte, Cíntia Barros Santos-Rebouças and Márcia Mattos Gonçalves Pimentel
J Hum Genet 51: 737-740; advance online publication, July 15, 2006; doi:10.1007/s10038-006-0014-4
