Works matching IS 14345161 AND DT 2015 AND VI 60 AND IP 5

Results: 10

Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 5, p. 285, doi. 10.1038/jhg.2015.27

By:

Ankleshwaria, Chitra;
Mistri, Mehul;
Bavdekar, Ashish;
Muranjan, Mamta;
Dave, Usha;
Tamhankar, Parag;
Khanna, Varun;
Jasinge, Eresha;
Nampoothiri, Sheela;
Edayankara Kadangot, Suresh;
Sheth, Frenny;
Gupta, Sarita;
Sheth, Jayesh

Publication type:

Article

The donor ABCB1 (MDR-1) C3435T polymorphism is a determinant of the graft glomerular filtration rate among tacrolimus treated kidney transplanted patients.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 5, p. 273, doi. 10.1038/jhg.2015.12

By:

Tavira, Beatriz;
Gómez, Juan;
Díaz-Corte, Carmen;
Coronel, Diego;
Lopez-Larrea, Carlos;
Suarez, Beatriz;
Coto, Eliecer

Publication type:

Article

A new method for SMN1 and hybrid SMN gene analysis in spinal muscular atrophy using long-range PCR followed by sequencing.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 5, p. 233, doi. 10.1038/jhg.2015.16

By:

Kubo, Yuji;
Nishio, Hisahide;
Saito, Kayoko

Publication type:

Article

Constructive rescue of TFIIH instability by an alternative isoform of XPD derived from a mutated XPD allele in mild but not severe XP-D/CS.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 5, p. 259, doi. 10.1038/jhg.2015.18

By:

Horibata, Katsuyoshi;
Kono, Sayaka;
Ishigami, Chie;
Zhang, Xue;
Aizawa, Madoka;
Kako, Yuko;
Ishii, Takuma;
Kosaki, Rika;
Saijo, Masafumi;
Tanaka, Kiyoji

Publication type:

Article

Systematic review and meta-analysis of Japanese familial Alzheimer's disease and FTDP-17.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 5, p. 281, doi. 10.1038/jhg.2015.15

By:

Kasuga, Kensaku;
Kikuchi, Masataka;
Tokutake, Takayoshi;
Nakaya, Akihiro;
Tezuka, Toshiyuki;
Tsukie, Tamao;
Hara, Norikazu;
Miyashita, Akinori;
Kuwano, Ryozo;
Ikeuchi, Takeshi

Publication type:

Article

WWOX and severe autosomal recessive epileptic encephalopathy: first case in the prenatal period.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 5, p. 267, doi. 10.1038/jhg.2015.17

By:

Valduga, Mylène;
Philippe, Christophe;
Lambert, Laetitia;
Bach-Segura, Pascale;
Schmitt, Emmanuelle;
Masutti, Jean Pierre;
François, Bénédicte;
Pinaud, Patrick;
Vibert, Mireille;
Jonveaux, Philippe

Publication type:

Article

A case of autism spectrum disorder arising from a de novo missense mutation in POGZ.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 5, p. 277, doi. 10.1038/jhg.2015.13

By:

Fukai, Ryoko;
Hiraki, Yoko;
Yofune, Hiroko;
Tsurusaki, Yoshinori;
Nakashima, Mitsuko;
Saitsu, Hirotomo;
Tanaka, Fumiaki;
Miyake, Noriko;
Matsumoto, Naomichi

Publication type:

Article

Decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 variants.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 5, p. 241, doi. 10.1038/jhg.2015.10

By:

Baudhuin, Linnea M;
Kotzer, Katrina E;
Lagerstedt, Susan A

Publication type:

Article

Detection of APC mosaicism by next-generation sequencing in an FAP patient.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 5, p. 227, doi. 10.1038/jhg.2015.14

By:

Yamaguchi, Kiyoshi;
Komura, Mitsuhiro;
Yamaguchi, Rui;
Imoto, Seiya;
Shimizu, Eigo;
Kasuya, Shinichi;
Shibuya, Tetsuo;
Hatakeyama, Seira;
Takahashi, Norihiko;
Ikenoue, Tsuneo;
Hata, Keisuke;
Tsurita, Giichiro;
Shinozaki, Masaru;
Suzuki, Yutaka;
Sugano, Sumio;
Miyano, Satoru;
Furukawa, Yoichi

Publication type:

Article

Incidence and clinical importance of BCR-ABL1 mutations in Iranian patients with chronic myeloid leukemia on imatinib.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 5, p. 253, doi. 10.1038/jhg.2015.11

By:

Rostami, Golale;
Hamid, Mohammad;
Yaran, Majid;
Khani, Mohsen;
Karimipoor, Morteza

Publication type:

Article