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
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
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