Works matching IS 14345161 AND DT 2013 AND VI 58 AND IP 8

Results: 14

Autosomal recessive gingival hyperplasia and dental anomalies caused by a 29-base pair duplication in the FAM20A gene.

Published in:

Journal of Human Genetics, 2013, v. 58, n. 8, p. 566, doi. 10.1038/jhg.2013.44

By:

Cabral, Rita M;
Kurban, Mazen;
Rothman, Lisa;
Wajid, Muhammad;
Shimomura, Yutaka;
Petukhova, Lynn;
Christiano, Angela M

Publication type:

Article

WFS1 variants in Finnish patients with diabetes mellitus, sensorineural hearing impairment or optic atrophy, and in suicide victims.

Published in:

Journal of Human Genetics, 2013, v. 58, n. 8, p. 495, doi. 10.1038/jhg.2013.29

By:

Kytövuori, Laura;
Seppänen, Allan;
Martikainen, Mika H;
Moilanen, Jukka S;
Kamppari, Seija;
Särkioja, Terttu;
Remes, Anne M;
Räsänen, Pirkko;
Rönnemaa, Tapani;
Majamaa, Kari

Publication type:

Article

Further evidence of an association between a genetic variant in BMP7 and treatment response to SSRIs in major depressive disorder.

Published in:

Journal of Human Genetics, 2013, v. 58, n. 8, p. 568, doi. 10.1038/jhg.2013.52

By:

Esaki, Kosei;
Kondo, Kenji;
Hatano, Masakazu;
Saito, Takeo;
Kishi, Taro;
Umene-Nakano, Wakako;
Yoshimura, Reiji;
Nakamura, Jun;
Ozaki, Norio;
Ikeda, Masashi;
Iwata, Nakao

Publication type:

Article

Analysis of genetic variants of dyslexia candidate genes KIAA0319 and DCDC2 in Indian population.

Published in:

Journal of Human Genetics, 2013, v. 58, n. 8, p. 531, doi. 10.1038/jhg.2013.46

By:

Venkatesh, Shyamala K;
Siddaiah, Anand;
Padakannaya, Prakash;
Ramachandra, Nallur B

Publication type:

Article

Family-based genome-wide copy number scan identifies five new genes of dyslexia involved in dendritic spinal plasticity.

Published in:

Journal of Human Genetics, 2013, v. 58, n. 8, p. 539, doi. 10.1038/jhg.2013.47

By:

Veerappa, Avinash M;
Saldanha, Marita;
Padakannaya, Prakash;
Ramachandra, Nallur B

Publication type:

Article

The novel mutation p.Asp251Asn in the β-subunit of succinate-CoA ligase causes encephalomyopathy and elevated succinylcarnitine.

Published in:

Journal of Human Genetics, 2013, v. 58, n. 8, p. 526, doi. 10.1038/jhg.2013.45

By:

Jaberi, Elham;
Chitsazian, Fereshteh;
Ali Shahidi, Gholam;
Rohani, Mohammad;
Sina, Farzad;
Safari, Iman;
Malakouti Nejad, Maryam;
Houshmand, Masoud;
Klotzle, Brandy;
Elahi, Elahe

Publication type:

Article

A nonsynonymous variant of IL1A is associated with endometriosis in Japanese population.

Published in:

Journal of Human Genetics, 2013, v. 58, n. 8, p. 517, doi. 10.1038/jhg.2013.32

By:

Hata, Yuki;
Nakaoka, Hirofumi;
Yoshihara, Kosuke;
Adachi, Sosuke;
Haino, Kazufumi;
Yamaguchi, Masayuki;
Nishikawa, Nobumichi;
Kashima, Katsunori;
Yahata, Tetsuro;
Tajima, Atsushi;
Watanabe, Atsushi;
Akira, Shigeo;
Hosomichi, Kazuyoshi;
Inoue, Ituro;
Tanaka, Kenichi

Publication type:

Article

Epithelial-mesenchymal transition-related microRNA-200s regulate molecular targets and pathways in renal cell carcinoma.

Published in:

Journal of Human Genetics, 2013, v. 58, n. 8, p. 508, doi. 10.1038/jhg.2013.31

By:

Yoshino, Hirofumi;
Enokida, Hideki;
Itesako, Toshihiko;
Tatarano, Shuichi;
Kinoshita, Takashi;
Fuse, Miki;
Kojima, Satoko;
Nakagawa, Masayuki;
Seki, Naohiko

Publication type:

Article

Serbian high-risk families: extensive results on BRCA mutation spectra and frequency.

Published in:

Journal of Human Genetics, 2013, v. 58, n. 8, p. 501, doi. 10.1038/jhg.2013.30

By:

Dobričić, Jelena;
Krivokuća, Ana;
Brotto, Ksenija;
Mališić, Emina;
Radulović, Siniša;
Branković-Magić, Mirjana

Publication type:

Article

Transmission of an FMR1 premutation allele in a large family identified through newborn screening: the role of AGG interruptions.

Published in:

Journal of Human Genetics, 2013, v. 58, n. 8, p. 553, doi. 10.1038/jhg.2013.50

By:

Yrigollen, Carolyn M;
Mendoza-Morales, Guadalupe;
Hagerman, Randi;
Tassone, Flora

Publication type:

Article

Identification of KCNN2 as a susceptibility locus for coronary artery aneurysms in Kawasaki disease using genome-wide association analysis.

Published in:

Journal of Human Genetics, 2013, v. 58, n. 8, p. 521, doi. 10.1038/jhg.2013.43

By:

Kim, Jae-Jung;
Park, Young-Mi;
Yoon, Dankyu;
Lee, Kyung-Yil;
Seob Song, Min;
Doo Lee, Hyoung;
Kim, Kwi-Joo;
Park, In-Sook;
Nam, Hyo-Kyoung;
Weon Yun, Sin;
Ki Han, Myung;
Mi Hong, Young;
Young Jang, Gi;
Lee, Jong-Keuk

Publication type:

Article

Follow-up nationwide survey on predictive genetic testing for late-onset hereditary neurological diseases in Japan.

Published in:

Journal of Human Genetics, 2013, v. 58, n. 8, p. 560, doi. 10.1038/jhg.2013.34

By:

Tanaka, Keiko;
Sekijima, Yoshiki;
Yoshida, Kunihiro;
Tamai, Mariko;
Kosho, Tomoki;
Sakurai, Akihiro;
Wakui, Keiko;
Ikeda, Shu-ichi;
Fukushima, Yoshimitsu

Publication type:

Article

Newborn screening for Fabry disease in Japan: prevalence and genotypes of Fabry disease in a pilot study.

Published in:

Journal of Human Genetics, 2013, v. 58, n. 8, p. 548, doi. 10.1038/jhg.2013.48

By:

Inoue, Takahito;
Hattori, Kiyoko;
Ihara, Kenji;
Ishii, Atsushi;
Nakamura, Kimitoshi;
Hirose, Shinichi

Publication type:

Article

Exome sequencing as a diagnostic tool to identify a causal mutation in genetically highly heterogeneous limb-girdle muscular dystrophy.

Published in:

Journal of Human Genetics, 2013, v. 58, n. 8, p. 564, doi. 10.1038/jhg.2013.33

By:

Matsuura, Tohru;
Kurosaki, Tatsuaki;
Omote, Yoshio;
Minami, Narihiro;
Hayashi, Yukiko K;
Nishino, Ichizo;
Abe, Koji

Publication type:

Article