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Showing 13 to 15 of 15 entries
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Genomic backgrounds of Japanese patients with undiagnosed neurodevelopmental disorders.

Brain & development

Yamamoto T, Imaizumi T, Yamamoto-Shimojima K, Lu Y, Yanagishita T, Shimada S, Chong PF, Kira R, Ueda R, Ishiyama A, Takeshita E, Momosaki K, Ozasa S, Akiyama T, Kobayashi K, Oomatsu H, Kitahara H, Yamaguchi T, Imai K, Kurahashi H, Okumura A, Oguni H, Seto T, Okamoto N.
PMID: 31171384
Brain Dev. 2019 Oct;41(9):776-782. doi: 10.1016/j.braindev.2019.05.007. Epub 2019 Jun 04.

BACKGROUND: Recently, many genes related to neurodevelopmental disorders have been identified by high-throughput genomic analysis; however, a comprehensive understanding of the mechanism underlying neurodevelopmental disorders remains to be established. To further understand these underlying mechanisms, we performed a comprehensive...

Assessing genome-wide copy number variation in the Han Chinese population.

Journal of medical genetics

Lu J, Lou H, Fu R, Lu D, Zhang F, Wu Z, Zhang X, Li C, Fang B, Pu F, Wei J, Wei Q, Zhang C, Wang X, Lu Y, Yan S, Yang Y, Jin L, Xu S.
PMID: 28705883
J Med Genet. 2017 Oct;54(10):685-692. doi: 10.1136/jmedgenet-2017-104613. Epub 2017 Jul 13.

BACKGROUND: Copy number variation (CNV) is a valuable source of genetic diversity in the human genome and a well-recognised cause of various genetic diseases. However, CNVs have been considerably under-represented in population-based studies, particularly the Han Chinese which is...

Progress in Defining the Genetic Contribution to Type 2 Diabetes in Individuals of East Asian Ancestry.

Current diabetes reports

Spracklen CN, Sim X.
PMID: 33846905
Curr Diab Rep. 2021 Apr 13;21(6):17. doi: 10.1007/s11892-021-01388-2.

PURPOSE OF REVIEW: Prevalence of type 2 diabetes (T2D) and progression of complications differ between worldwide populations. While obesity is a major contributing risk factor, variations in physiological manifestations, e.g., developing T2D at lower body mass index in some...

Showing 13 to 15 of 15 entries