Works matching IS 14345161 AND DT 2013 AND VI 58 AND IP 9

Results: 14

Quantitative analysis of methylation status at 11p15 and 7q21 for the genetic diagnosis of Beckwith-Wiedemann syndrome and Silver-Russell syndrome.

Published in:

Journal of Human Genetics, 2013, v. 58, n. 9, p. 604, doi. 10.1038/jhg.2013.67

By:

Lee, Beom Hee;
Kim, Gu-Hwan;
Oh, Tae Jeong;
Kim, Joo Hyun;
Lee, Jin-Joo;
Choi, Seung Hoon;
Lee, Joo Yeon;
Kim, Jae-Min;
Choi, In Hee;
Kim, Yoo-Mi;
Choi, Jin-Ho;
Yoo, Han-Wook

Publication type:

Article

Tracing the genomic ancestry of Peruvians reveals a major legacy of pre-Columbian ancestors.

Published in:

Journal of Human Genetics, 2013, v. 58, n. 9, p. 627, doi. 10.1038/jhg.2013.73

By:

Sandoval, Jose R;
Salazar-Granara, Alberto;
Acosta, Oscar;
Castillo-Herrera, Wilder;
Fujita, Ricardo;
Pena, Sergio DJ;
Santos, Fabricio R

Publication type:

Article

Effects of a polymorphism in the GFAP promoter on the age of onset and ambulatory disability in late-onset Alexander disease.

Published in:

Journal of Human Genetics, 2013, v. 58, n. 9, p. 635, doi. 10.1038/jhg.2013.83

By:

Yoshida, Tomokatsu;
Mizuta, Ikuko;
Saito, Kozo;
Ohara, Ryo;
Kurisaki, Hiroshi;
Ohnari, Keiko;
Riku, Yuichi;
Hayashi, Yuichi;
Suzuki, Hidekazu;
Shii, Hiroaki;
Fujiwara, Yasuhiro;
Yonezu, Tadahiro;
Nagaishi, Akiko;
Nakagawa, Masanori

Publication type:

Article

Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population.

Published in:

Journal of Human Genetics, 2013, v. 58, n. 9, p. 641, doi. 10.1038/jhg.2013.85

By:

Bashir, Zil-e-Huma;
Latief, Noreen;
Belyantseva, Inna A;
Iqbal, Farheena;
Amer Riazuddin, Sheikh;
Khan, Shaheen N;
Friedman, Thomas B;
Riazuddin, Sheikh;
Riazuddin, Saima

Publication type:

Article

New developments in medical education for the realization of next-generation personalized medicine: concept and design of a medical education and training program through the genomic cohort study.

Published in:

Journal of Human Genetics, 2013, v. 58, n. 9, p. 639, doi. 10.1038/jhg.2013.69

By:

Narimatsu, Hiroto;
Kitanaka, Chifumi;
Kubota, Isao;
Sato, Shinya;
Ueno, Yoshiyuki;
Kato, Takeo;
Fukao, Akira;
Yamashita, Hidetoshi;
Kayama, Takamasa

Publication type:

Article

Complete genome sequencing and variant analysis of a Pakistani individual.

Published in:

Journal of Human Genetics, 2013, v. 58, n. 9, p. 622, doi. 10.1038/jhg.2013.72

By:

Azim, Muhammad Kamran;
Yang, Chuanchun;
Yan, Zhixiang;
Choudhary, Muhammad Iqbal;
Khan, Asifullah;
Sun, Xiao;
Li, Ran;
Asif, Huma;
Sharif, Sana;
Zhang, Yong

Publication type:

Article

Functional analysis of BRCA1 missense variants of uncertain significance in Japanese breast cancer families.

Published in:

Journal of Human Genetics, 2013, v. 58, n. 9, p. 618, doi. 10.1038/jhg.2013.71

By:

Kawaku, Shogo;
Sato, Rieko;
Song, Hao;
Bando, Yuko;
Arinami, Tadao;
Noguchi, Emiko

Publication type:

Article

A replication study for three nephrolithiasis loci at 5q35.3, 7p14.3 and 13q14.1 in the Japanese population.

Published in:

Journal of Human Genetics, 2013, v. 58, n. 9, p. 588, doi. 10.1038/jhg.2013.59

By:

Yasui, Takahiro;
Okada, Atsushi;
Urabe, Yuji;
Usami, Masayuki;
Mizuno, Kentaro;
Kubota, Yasue;
Tozawa, Keiichi;
Sasaki, Shoichi;
Higashi, Yoshihito;
Sato, Yoshikazu;
Kubo, Michiaki;
Nakamura, Yusuke;
Matsuda, Koichi;
Kohri, Kenjiro

Publication type:

Article

Molecular pathology of Sandhoff disease with p.Arg505Gln in HEXB: application of simulation analysis.

Published in:

Journal of Human Genetics, 2013, v. 58, n. 9, p. 611, doi. 10.1038/jhg.2013.68

By:

Yasui, Naoko;
Takaoka, Yutaka;
Nishio, Hisahide;
Nurputra, Dian K;
Sekiguchi, Kenji;
Hamaguchi, Hirotoshi;
Kowa, Hisatomo;
Maeda, Eiichi;
Sugano, Aki;
Miura, Kenji;
Sakaeda, Toshiyuki;
Kanda, Fumio;
Toda, Tatsushi

Publication type:

Article

CEBPE promoter SNPs, caught red handed? A commentary on identification of functional nucleotide and haplotype variants in the promoter of the CEBPE gene.

Published in:

Journal of Human Genetics, 2013, v. 58, n. 9, p. 571, doi. 10.1038/jhg.2013.81

By:

Xu, Heng;
Yang, Jun J

Publication type:

Article

The SCN1A gene variants and epileptic encephalopathies.

Published in:

Journal of Human Genetics, 2013, v. 58, n. 9, p. 573, doi. 10.1038/jhg.2013.77

By:

Parihar, Rashmi;
Ganesh, Subramaniam

Publication type:

Article

A common and two novel GBA mutations in Thai patients with Gaucher disease.

Published in:

Journal of Human Genetics, 2013, v. 58, n. 9, p. 594, doi. 10.1038/jhg.2013.60

By:

Tammachote, Rachaneekorn;
Tongkobpetch, Siraprapa;
Srichomthong, Chalurmpon;
Phipatthanananti, Kampon;
Pungkanon, Suthipong;
Wattanasirichaigoon, Duangrurdee;
Suphapeetiporn, Kanya;
Shotelersuk, Vorasuk

Publication type:

Article

Identification of functional nucleotide and haplotype variants in the promoter of the CEBPE gene.

Published in:

Journal of Human Genetics, 2013, v. 58, n. 9, p. 600, doi. 10.1038/jhg.2013.62

By:

Ryoo, Hyunju;
Kong, Minyoung;
Kim, Younyoung;
Lee, Chaeyoung

Publication type:

Article

A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene.

Published in:

Journal of Human Genetics, 2013, v. 58, n. 9, p. 581, doi. 10.1038/jhg.2013.58

By:

Brugnoni, Raffaella;
Kapetis, Dimos;
Imbrici, Paola;
Pessia, Mauro;
Canioni, Eleonora;
Colleoni, Lara;
de Rosbo, Nicole Kerlero;
Morandi, Lucia;
Cudia, Paola;
Gashemi, Nasrin;
Bernasconi, Pia;
Desaphy, Jean-Francois;
Conte, Diana;
Mantegazza, Renato

Publication type:

Article