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Investigation of modifier genes within copy number variations in Rett syndrome.
Published in:
Journal of Human Genetics, 2012, v. 57, n. 5, p. 342, doi. 10.1038/jhg.2012.30
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
Association of genetic polymorphisms in the RET-protooncogene and NRG1 with Hirschsprung disease in Thai patients.
Published in:
Journal of Human Genetics, 2012, v. 57, n. 5, p. 286, doi. 10.1038/jhg.2012.18
By:
- Phusantisampan, Theerawut;
- Sangkhathat, Surasak;
- Phongdara, Amornrat;
- Chiengkriwate, Piyawan;
- Patrapinyokul, Sakda;
- Mahasirimongkol, Surakameth
Publication type:
Article
Genetic differences in the two main groups of the Japanese population based on autosomal SNPs and haplotypes.
Published in:
Journal of Human Genetics, 2012, v. 57, n. 5, p. 326, doi. 10.1038/jhg.2012.26
By:
- Yamaguchi-Kabata, Yumi;
- Tsunoda, Tatsuhiko;
- Kumasaka, Natsuhiko;
- Takahashi, Atsushi;
- Hosono, Naoya;
- Kubo, Michiaki;
- Nakamura, Yusuke;
- Kamatani, Naoyuki
Publication type:
Article
Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions.
Published in:
Journal of Human Genetics, 2012, v. 57, n. 5, p. 338, doi. 10.1038/jhg.2012.23
By:
- Ono, Shinji;
- Yoshiura, Koh-ichiro;
- Kinoshita, Akira;
- Kikuchi, Taeko;
- Nakane, Yoshibumi;
- Kato, Nobumasa;
- Sadamatsu, Miyuki;
- Konishi, Tohru;
- Nagamitsu, Shinichiro;
- Matsuura, Masato;
- Yasuda, Ayako;
- Komine, Maki;
- Kanai, Kazuaki;
- Inoue, Takeshi;
- Osamura, Toshio;
- Saito, Kayoko;
- Hirose, Shinichi;
- Koide, Hiroyoshi;
- Tomita, Hiroaki;
- Ozawa, Hiroki
Publication type:
Article
Inheritance of polyalanine expansion mutation of PHOX2B in congenital central hypoventilation syndrome.
Published in:
Journal of Human Genetics, 2012, v. 57, n. 5, p. 335, doi. 10.1038/jhg.2012.27
By:
- Meguro, Toru;
- Yoshida, Yuki;
- Hayashi, Makiko;
- Toyota, Kentaro;
- Otagiri, Tesshu;
- Mochizuki, Narutaka;
- Kishikawa, Yumiko;
- Sasaki, Ayako;
- Hayasaka, Kiyoshi
Publication type:
Article
A synonymous mutation in SPINK5 exon 11 causes Netherton syndrome by altering exonic splicing regulatory elements.
Published in:
Journal of Human Genetics, 2012, v. 57, n. 5, p. 311, doi. 10.1038/jhg.2012.22
By:
- Fortugno, Paola;
- Grosso, Fabiana;
- Zambruno, Giovanna;
- Pastore, Serena;
- Faletra, Flavio;
- Castiglia, Daniele
Publication type:
Article
A unique demographic history exists for the MAO-A gene in Polynesians.
Published in:
Journal of Human Genetics, 2012, v. 57, n. 5, p. 294, doi. 10.1038/jhg.2012.19
By:
- Eccles, David A;
- Macartney-Coxson, Donia;
- Chambers, Geoffrey K;
- Lea, Rodney A
Publication type:
Article
Association between type 2 diabetes genetic susceptibility loci and visceral and subcutaneous fat area as determined by computed tomography.
Published in:
Journal of Human Genetics, 2012, v. 57, n. 5, p. 305, doi. 10.1038/jhg.2012.21
By:
- Hotta, Kikuko;
- Kitamoto, Aya;
- Kitamoto, Takuya;
- Mizusawa, Seiho;
- Teranishi, Hajime;
- So, Rina;
- Matsuo, Tomoaki;
- Nakata, Yoshio;
- Hyogo, Hideyuki;
- Ochi, Hidenori;
- Nakamura, Takahiro;
- Kamohara, Seika;
- Miyatake, Nobuyuki;
- Kotani, Kazuaki;
- Komatsu, Ryoya;
- Itoh, Naoto;
- Mineo, Ikuo;
- Wada, Jun;
- Yoneda, Masato;
- Nakajima, Atsushi
Publication type:
Article
Novel TARDBP mutations in Nordic ALS patients.
Published in:
Journal of Human Genetics, 2012, v. 57, n. 5, p. 316, doi. 10.1038/jhg.2012.24
By:
- Chiang, Huei-Hsin;
- Andersen, Peter M;
- Tysnes, Ole-Bjørn;
- Gredal, Ole;
- Christensen, Peter B;
- Graff, Caroline
Publication type:
Article
Phenotype variations in Lafora progressive myoclonus epilepsy: possible involvement of genetic modifiers?
Published in:
Journal of Human Genetics, 2012, v. 57, n. 5, p. 283, doi. 10.1038/jhg.2012.29
By:
- Singh, Shweta;
- Ganesh, Subramaniam
Publication type:
Article
A genome-wide association study identifies novel susceptibility genetic variation for thyrotoxic hypokalemic periodic paralysis.
Published in:
Journal of Human Genetics, 2012, v. 57, n. 5, p. 301, doi. 10.1038/jhg.2012.20
By:
- Jongjaroenprasert, Wallaya;
- Phusantisampan, Theerawut;
- Mahasirimongkol, Surakameth;
- Mushiroda, Taisei;
- Hirankarn, Nattiya;
- Snabboon, Thiti;
- Chanprasertyotin, Suwannee;
- Tantiwong, Puntip;
- Soonthornpun, Supamai;
- Rattanapichart, Paninee;
- Mamanasiri, Sunee;
- Himathongkam, Thep;
- Ongphiphadhanakul, Boonsong;
- Takahashi, Atsushi;
- Kamatani, Naoyuki;
- Kubo, Michiaki;
- Nakamura, Yusuke
Publication type:
Article
Genetic variants on chromosome 6p21.1 and 6p22.3 are associated with type 2 diabetes risk: a case-control study in Han Chinese.
Published in:
Journal of Human Genetics, 2012, v. 57, n. 5, p. 320, doi. 10.1038/jhg.2012.25
By:
- Lu, Feng;
- Qian, Yun;
- Li, Huizhang;
- Dong, Meihua;
- Lin, Yudi;
- Du, Jiangbo;
- Lin, Yuan;
- Chen, Jian;
- Shen, Chong;
- Jin, Guangfu;
- Dai, Juncheng;
- Hu, Zhibin;
- Shen, Hongbing
Publication type:
Article

Found: 12