Works matching IS 14345161 AND DT 2012 AND VI 57 AND IP 9

Results: 12

Patient-derived iPS cells for unveiling the molecular pathology of Pelizaeus-Merzbacher disease: a commentary on 'Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus-Merzbacher disease patient with a partial PLP1 duplication'

Published in:

Journal of Human Genetics, 2012, v. 57, n. 9, p. 553, doi. 10.1038/jhg.2012.85

By:

Inoue, Ken

Publication type:

Article

A Commentary on 'Four novel C20ORF54 mutations identified in Brown-Vialetto-Van Laere syndrome patients.'.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 9, p. 555, doi. 10.1038/jhg.2012.88

By:

Houlden, Henry

Publication type:

Article

Subtelomeric deletions of 1q43q44 and severe brain impairment associated with delayed myelination.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 9, p. 593, doi. 10.1038/jhg.2012.77

By:

Shimojima, Keiko;
Okamoto, Nobuhiko;
Suzuki, Yume;
Saito, Mari;
Mori, Masato;
Yamagata, Tatanori;
Momoi, Mariko Y;
Hattori, Hideji;
Okano, Yoshiyuki;
Hisata, Ken;
Okumura, Akihisa;
Yamamoto, Toshiyuki

Publication type:

Article

Mitochondrial haplogroup C in ancient mitochondrial DNA from Ukraine extends the presence of East Eurasian genetic lineages in Neolithic Central and Eastern Europe.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 9, p. 610, doi. 10.1038/jhg.2012.69

By:

Nikitin, Alexey G;
Newton, Jeremy R;
Potekhina, Inna D

Publication type:

Article

Identification of a novel Wilson disease gene mutation frequent in Upper Austria: a genetic and clinical study.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 9, p. 564, doi. 10.1038/jhg.2012.65

By:

Hofer, Harald;
Willheim-Polli, Claudia;
Knoflach, Peter;
Gabriel, Christian;
Vogel, Wolfgang;
Trauner, Michael;
Müller, Thomas;
Ferenci, Peter

Publication type:

Article

Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus-Merzbacher disease patient with a partial PLP1 duplication.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 9, p. 580, doi. 10.1038/jhg.2012.71

By:

Shimojima, Keiko;
Inoue, Takahito;
Imai, Yuki;
Arai, Yasuhiro;
Komoike, Yuta;
Sugawara, Midori;
Fujita, Takako;
Ideguchi, Hiroshi;
Yasumoto, Sawa;
Kanno, Hitoshi;
Hirose, Shinichi;
Yamamoto, Toshiyuki

Publication type:

Article

Four novel C20orf54 mutations identified in Brown-Vialetto-Van Laere syndrome patients.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 9, p. 613, doi. 10.1038/jhg.2012.70

By:

Dezfouli, Mitra Ansari;
Yadegari, Samira;
Nafissi, Shahriar;
Elahi, Elahe

Publication type:

Article

Admixture and population structure in Mexican-Mestizos based on paternal lineages.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 9, p. 568, doi. 10.1038/jhg.2012.67

By:

Martínez-Cortés, Gabriela;
Salazar-Flores, Joel;
Gabriela Fernández-Rodríguez, Laura;
Rubi-Castellanos, Rodrigo;
Rodríguez-Loya, Carmen;
Velarde-Félix, Jesús Salvador;
Franciso Muñoz-Valle, José;
Parra-Rojas, Isela;
Rangel-Villalobos, Héctor

Publication type:

Article

The functional significance of microRNA-375 in human squamous cell carcinoma: aberrant expression and effects on cancer pathways.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 9, p. 556, doi. 10.1038/jhg.2012.75

By:

Kinoshita, Takashi;
Hanazawa, Toyoyuki;
Nohata, Nijiro;
Okamoto, Yoshitaka;
Seki, Naohiko

Publication type:

Article

TECTA mutations in Japanese with mid-frequency hearing loss affected by zona pellucida domain protein secretion.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 9, p. 587, doi. 10.1038/jhg.2012.73

By:

Moteki, Hideaki;
Nishio, Shin-ya;
Hashimoto, Shigenari;
Takumi, Yutaka;
Iwasaki, Satoshi;
Takeichi, Norihito;
Fukuda, Satoshi;
Usami, Shin-ichi

Publication type:

Article

A novel test of informative missingness using inconsistent linkage disequilibrium signals between case-parent triads and incomplete data.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 9, p. 601, doi. 10.1038/jhg.2012.78

By:

Guo, Chao-Yu

Publication type:

Article

High-throughput screening identified disease-causing mutants and functional variants of α-galactosidase A gene in Japanese male hemodialysis patients.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 9, p. 575, doi. 10.1038/jhg.2012.68

By:

Doi, Kent;
Noiri, Eisei;
Ishizu, Tomoko;
Negishi, Kousuke;
Suzuki, Yoshifumi;
Hamasaki, Yoshifumi;
Honda, Kenjiro;
Fujita, Toshiro;
Tsukimura, Takahiro;
Togawa, Tadayasu;
Saito, Seiji;
Sakuraba, Hitoshi

Publication type:

Article