Works matching IS 14345161 AND DT 2014 AND VI 59 AND IP 10

Results: 9

Clinical and molecular studies in four patients with SRY-positive 46,XX testicular disorders of sex development: implications for variable sex development and genomic rearrangements.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 10, p. 549, doi. 10.1038/jhg.2014.70

By:

Nakashima, Shinichi;
Ohishi, Akira;
Takada, Fumio;
Kawamura, Hideki;
Igarashi, Maki;
Fukami, Maki;
Ogata, Tsutomu

Publication type:

Article

A Japanese SCA5 family with a novel three-nucleotide in-frame deletion mutation in the SPTBN2 gene: a clinical and genetic study.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 10, p. 569, doi. 10.1038/jhg.2014.74

By:

Wang, Ying;
Koh, Kishin;
Miwa, Michiaki;
Yamashiro, Nobuo;
Shindo, Kazumasa;
Takiyama, Yoshihisa

Publication type:

Article

Telomerase expression in amyotrophic lateral sclerosis (ALS) patients.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 10, p. 555, doi. 10.1038/jhg.2014.72

By:

De Felice, Bruna;
Annunziata, Anna;
Fiorentino, Giuseppe;
Manfellotto, Francesco;
D'Alessandro, Raffaella;
Marino, Rita;
Borra, Marco;
Biffali, Elio

Publication type:

Article

GST Theta null genotype is associated with an increased risk for ulcerative colitis: a case-control study and meta-analysis of GST Mu and GST Theta polymorphisms in inflammatory bowel disease.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 10, p. 575, doi. 10.1038/jhg.2014.77

By:

Broekman, Mark M T J;
Bos, Caro;
te Morsche, René H M;
Hoentjen, Frank;
Roelofs, Hennie M J;
Peters, Wilbert H M;
Wanten, Geert J A;
de Jong, Dirk J

Publication type:

Article

Heterozygosity for deletion of hypersensitive site 3 in the human locus control region has an unexpected minor effect on red cell phenotype.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 10, p. 585, doi. 10.1038/jhg.2014.76

By:

Nieto, Jorge M;
Villegas, Ana;
De La Fuente-Gonzalo, Felix;
González, Fernando A;
Ropero, Paloma

Publication type:

Article

'Cortical cerebellar atrophy' dwindles away in the era of next-generation sequencing.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 10, p. 589, doi. 10.1038/jhg.2014.75

By:

Yoshida, Kunihiro;
Miyatake, Satoko;
Kinoshita, Tomomi;
Doi, Hiroshi;
Tsurusaki, Yoshinori;
Miyake, Noriko;
Saitsu, Hirotomo;
Matsumoto, Naomichi

Publication type:

Article

A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 10, p. 581, doi. 10.1038/jhg.2014.71

By:

Saitsu, Hirotomo;
Tohyama, Jun;
Walsh, Tom;
Kato, Mitsuhiro;
Kobayashi, Yu;
Lee, Ming;
Tsurusaki, Yoshinori;
Miyake, Noriko;
Goto, Yu-ichi;
Nishino, Ichizo;
Ohtake, Akira;
King, Mary-Claire;
Matsumoto, Naomichi

Publication type:

Article

Nonparametric method for detecting imprinting effect using all members of general pedigrees with missing data.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 10, p. 541, doi. 10.1038/jhg.2014.67

By:

Zhang, Fangyuan;
Lin, Shili

Publication type:

Article

Three novel mutations of the FBN1 gene in Chinese children with acromelic dysplasia.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 10, p. 563, doi. 10.1038/jhg.2014.73

By:

Wang, Yu;
Zhang, Huiwen;
Ye, Jun;
Han, Lianshu;
Gu, Xuefan

Publication type:

Article