Works matching IS 14345161 AND DT 2011 AND VI 56 AND IP 7

Results: 13

LCR-initiated rearrangements at the IDS locus, completed with Alu-mediated recombination or non-homologous end joining.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 7, p. 516, doi. 10.1038/jhg.2011.51

By:

Oshima, Junko;
Lee, Jennifer A;
Breman, Amy M;
Fernandes, Priscilla H;
Babovic-Vuksanovic, Dusica;
Ward, Patricia A;
Wolfe, Lynne A;
Eng, Christine M;
del Gaudio, Daniela

Publication type:

Article

Investigation of modifier genes within copy number variations in Rett syndrome.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 7, p. 508, doi. 10.1038/jhg.2011.50

By:

Artuso, Rosangela;
Papa, Filomena T;
Grillo, Elisa;
Mucciolo, Mafalda;
Yasui, Dag H;
Dunaway, Keith W;
Disciglio, Vittoria;
Mencarelli, Maria A;
Pollazzon, Marzia;
Zappella, Michele;
Hayek, Giuseppe;
Mari, Francesca;
Renieri, Alessandra;
LaSalle, Janine M;
Ariani, Francesca

Publication type:

Article

A Commentary on Identification of an autosomal dominant locus for intracranial aneurysm through a model-based family collection in a geographically limited area.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 7, p. 477, doi. 10.1038/jhg.2011.57

By:

Koizumi, Akio

Publication type:

Article

Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 7, p. 484, doi. 10.1038/jhg.2011.45

By:

Nakanishi, Hiroshi;
Ohtsubo, Masafumi;
Iwasaki, Satoshi;
Hotta, Yoshihiro;
Usami, Shin-ichi;
Mizuta, Kunihiro;
Mineta, Hiroyuki;
Minoshima, Shinsei

Publication type:

Article

Molecular and clinical studies of X-linked deafness among Pakistani families.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 7, p. 534, doi. 10.1038/jhg.2011.55

By:

Waryah, Ali M;
Ahmed, Zubair M;
Binder, Munir A;
Choo, Daniel I;
Sisk, Robert A;
Shahzad, Mohsin;
Khan, Shaheen N;
Friedman, Thomas B;
Riazuddin, Sheikh;
Riazuddin, Saima

Publication type:

Article

Cumulative association of eight susceptibility genes with systemic lupus erythematosus in a Japanese female population.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 7, p. 503, doi. 10.1038/jhg.2011.49

By:

Koga, Minori;
Kawasaki, Aya;
Ito, Ikue;
Furuya, Takumi;
Ohashi, Jun;
Kyogoku, Chieko;
Ito, Satoshi;
Hayashi, Taichi;
Matsumoto, Isao;
Kusaoi, Makio;
Takasaki, Yoshinari;
Hashimoto, Hiroshi;
Sumida, Takayuki;
Tsuchiya, Naoyuki

Publication type:

Article

16p13.11 duplication is a risk factor for a wide spectrum of neuropsychiatric disorders.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 7, p. 541, doi. 10.1038/jhg.2011.42

By:

Ramalingam, Arivudainambi;
Zhou, Xin-Gang;
Fiedler, Stephanie D;
Brawner, Sarah J;
Joyce, Julie M;
Liu, Hong-Yu;
Yu, Shihui

Publication type:

Article

Dysbindin-1 and NRG-1 gene expression in immortalized lymphocytes from patients with schizophrenia.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 7, p. 478, doi. 10.1038/jhg.2011.40

By:

Yamamori, Hidenaga;
Hashimoto, Ryota;
Verrall, Louise;
Yasuda, Yuka;
Ohi, Kazutaka;
Fukumoto, Motoyuki;
Umeda-Yano, Satomi;
Ito, Akira;
Takeda, Masatoshi

Publication type:

Article

Congenital factor XIII deficiency: A commentary on 'Homozygous intronic mutation leading to inefficient transcription combined with a novel frame-shift mutation in F13A1 gene causes FXIII deficiency'.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 7, p. 475, doi. 10.1038/jhg.2011.53

By:

Shinozawa, Keiko

Publication type:

Article

Pleiotropy of type 2 diabetes with obesity.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 7, p. 491, doi. 10.1038/jhg.2011.46

By:

Hasstedt, Sandra J;
Hanis, Craig L;
Das, Swapan K;
Elbein, Steven C

Publication type:

Article

A population-based study of copy number variants and regions of homozygosity in healthy Swedish individuals.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 7, p. 524, doi. 10.1038/jhg.2011.52

By:

Teo, Shu-Mei;
Ku, Chee-Seng;
Naidoo, Nasheen;
Hall, Per;
Chia, Kee-Seng;
Salim, Agus;
Pawitan, Yudi

Publication type:

Article

A single nucleotide polymorphism in the 3′-untranslated region of MyD88 gene is associated with Buerger disease but not with Takayasu arteritis in Japanese.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 7, p. 545, doi. 10.1038/jhg.2011.44

By:

Chen, Zhiyong;
Nakajima, Toshiaki;
Inoue, Yoshinori;
Kudo, Toshifumi;
Jibiki, Masatoshi;
Iwai, Takehisa;
Kimura, Akinori

Publication type:

Article

Germ-line sequence variants of PTEN do not have an important role in hereditary and non-hereditary prostate cancer susceptibility.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 7, p. 496, doi. 10.1038/jhg.2011.48

By:

Xie, Chunmei C;
Lu, Lingyi;
Sun, Jielin;
Zheng, S Lilly;
Isaacs, William B;
Gronberg, Henrik;
Xu, Jianfeng

Publication type:

Article