Works matching IS 14345161 AND DT 2011 AND VI 56 AND IP 2

Results: 15

Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failure.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 2, p. 156, doi. 10.1038/jhg.2010.155

By:

Nishimura-Tadaki, Akira;
Wada, Takahito;
Bano, Gul;
Gough, Karen;
Warner, Janet;
Kosho, Tomoki;
Ando, Noriko;
Hamanoue, Haruka;
Sakakibara, Hideya;
Nishimura, Gen;
Tsurusaki, Yoshinori;
Doi, Hiroshi;
Miyake, Noriko;
Wakui, Keiko;
Saitsu, Hirotomo;
Fukushima, Yoshimitsu;
Hirahara, Fumiki;
Matsumoto, Naomichi

Publication type:

Article

A Commentary on Genetic affinity and admixture of northern Thai People along their migration route in Northern Thailand: evidence from autosomal STR loci.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 2, p. 99, doi. 10.1038/jhg.2010.138

By:

Esteban Torné, M Esther

Publication type:

Article

Going BAC or oligo microarray to the well: A commentary on Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 2, p. 104, doi. 10.1038/jhg.2010.168

By:

Kato, Mitsuhiro

Publication type:

Article

X-linked adrenoleukodystrophy: Diagnostic and follow-up system in Japan.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 2, p. 106, doi. 10.1038/jhg.2010.139

By:

Shimozawa, Nobuyuki;
Honda, Ayako;
Kajiwara, Naomi;
Kozawa, Sachi;
Nagase, Tomoko;
Takemoto, Yasuhiko;
Suzuki, Yasuyuki

Publication type:

Article

Haplotype block structure of the genomic region of the mu opioid receptor gene.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 2, p. 147, doi. 10.1038/jhg.2010.150

By:

Levran, Orna;
Awolesi, Olaoluwakitan;
Linzy, Shirley;
Adelson, Miriam;
Kreek, Mary Jeanne

Publication type:

Article

Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 2, p. 110, doi. 10.1038/jhg.2010.129

By:

Hayashi, Shin;
Imoto, Issei;
Aizu, Yoshinori;
Okamoto, Nobuhiko;
Mizuno, Seiji;
Kurosawa, Kenji;
Okamoto, Nana;
Honda, Shozo;
Araki, Satoshi;
Mizutani, Shuki;
Numabe, Hironao;
Saitoh, Shinji;
Kosho, Tomoki;
Fukushima, Yoshimitsu;
Mitsubuchi, Hiroshi;
Endo, Fumio;
Chinen, Yasutsugu;
Kosaki, Rika;
Okuyama, Torayuki;
Ohki, Hirotaka

Publication type:

Article

Identification of novel MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts (MLC).

Published in:

Journal of Human Genetics, 2011, v. 56, n. 2, p. 138, doi. 10.1038/jhg.2010.146

By:

Wang, Jingmin;
Shang, Jing;
Wu, Ye;
Gu, Qiang;
Xiong, Hui;
Ding, Changhong;
Wang, Liwen;
Gao, Zhijie;
Wu, Xiru;
Jiang, Yuwu

Publication type:

Article

Chondroitin beta-1,4-N-acetylgalactosaminyltransferase-1 missense mutations are associated with neuropathies.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 2, p. 143, doi. 10.1038/jhg.2010.148

By:

Saigoh, Kazumasa;
Izumikawa, Tomomi;
Koike, Toshiyasu;
Shimizu, Jun;
Kitagawa, Hiroshi;
Kusunoki, Susumu

Publication type:

Article

Genetic affinity and admixture of northern Thai people along their migration route in northern Thailand: evidence from autosomal STR loci.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 2, p. 130, doi. 10.1038/jhg.2010.135

By:

Kutanan, Wibhu;
Kampuansai, Jatupol;
Colonna, Vincenza;
Nakbunlung, Supaporn;
Lertvicha, Pornpilai;
Seielstad, Mark;
Bertorelle, Giorgio;
Kangwanpong, Daoroong

Publication type:

Article

A Commentary on Diagnostic and follow-up system for X-linked adrenoleukodystrophy: a comprehensive model for 'treatable' genetic diseases.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 2, p. 101, doi. 10.1038/jhg.2010.149

By:

Kubota, Takeo

Publication type:

Article

Familial Mediterranean fever with a single MEFV mutation: can a deletion resulting in α-thalassemia be the cause?

Published in:

Journal of Human Genetics, 2011, v. 56, n. 2, p. 169, doi. 10.1038/jhg.2010.160

By:

Aslan, Deniz

Publication type:

Article

Prevalence of c.1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasia in Japanese and effects of the mutation on heterozygous carriers.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 2, p. 166, doi. 10.1038/jhg.2010.161

By:

Watanabe, Atsushi;
Karasugi, Tatsuki;
Sawai, Hideaki;
Naing, Banyar Than;
Ikegawa, Shiro;
Orimo, Hideo;
Shimada, Takashi

Publication type:

Article

A Commentary on Axon guidance pathway genes and Parkinson's disease.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 2, p. 102, doi. 10.1038/jhg.2010.153

By:

Tomiyama, Hiroyuki

Publication type:

Article

SNPs in axon guidance pathway genes and susceptibility for Parkinson's disease in the Korean population.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 2, p. 125, doi. 10.1038/jhg.2010.130

By:

Kim, Jong-Min;
Park, Sue K;
Yang, Jae Jeong;
Shin, Eun-Soon;
Lee, Jee-Young;
Yun, Ji Young;
Kim, Ji Seon;
Park, Sung Sup;
Jeon, Beom S

Publication type:

Article

CASP3 gene single-nucleotide polymorphism (rs72689236) and Kawasaki disease in Taiwanese children.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 2, p. 161, doi. 10.1038/jhg.2010.154

By:

Kuo, Ho-Chang;
Yu, Hong-Ren;
Juo, Suh-Hang Hank;
Yang, Kuender D;
Wang, Yu-Shiuan;
Liang, Chi-Di;
Chen, Wei-Chiao;
Chang, Wei-Pin;
Huang, Chien-Fu;
Lee, Chiu-Ping;
Lin, Li-Yan;
Liu, Yu-Chen;
Guo, Yuh-Cherng;
Chiu, Chien-Chih;
Chang, Wei-Chiao

Publication type:

Article