日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Genetic defect in CYP24A1, the vitamin D 24-hydroxylase gene, in a patient with severe infantile hypercalcemia

一名患有严重婴儿高钙血症的患者,其维生素D 24-羟化酶基因CYP24A1存在遗传缺陷。

Dauber, Andrew; Nguyen, Thutrang T; Sochett, Etienne; Cole, David E C; Horst, Ronald; Abrams, Steven A; Carpenter, Thomas O; Hirschhorn, Joel N

Absence of functional LIN28B mutations in a large cohort of patients with idiopathic central precocious puberty.

在一大群特发性中枢性性早熟患者中未发现功能性 LIN28B 突变

Silveira-Neto Acácio P, Leal Leticia Ferro, Emerman Amy B, Henderson Katherine D, Piskounova Elena, Henderson Brian E, Gregory Richard I, Silveira Letícia F Gontijo, Hirschhorn Joel N, Nguyen Thutrang T, Beneduzzi Daiane, Tusset Cintia, Reis Ana Claudia S, Brito Vinicius N, Mendonca Berenice B, Palmert Mark R, Antonini Sonir R, Latronico Ana Claudia

Common variants show predicted polygenic effects on height in the tails of the distribution, except in extremely short individuals.

常见变异在分布的尾部表现出对身高的预测多基因效应,但极矮个体除外

Chan Yingleong, Holmen Oddgeir L, Dauber Andrew, Vatten Lars, Havulinna Aki S, Skorpen Frank, Kvaløy Kirsti, Silander Kaisa, Nguyen Thutrang T, Willer Cristen, Boehnke Michael, Perola Markus, Palotie Aarno, Salomaa Veikko, Hveem Kristian, Frayling Timothy M, Hirschhorn Joel N, Weedon Michael N

Genome-wide association of anthropometric traits in African- and African-derived populations

非洲及非洲裔人群人体测量特征的全基因组关联分析

Kang, Sun J; Chiang, Charleston W K; Palmer, Cameron D; Tayo, Bamidele O; Lettre, Guillaume; Butler, Johannah L; Hackett, Rachel; Adeyemo, Adebowale A; Guiducci, Candace; Berzins, Ilze; Nguyen, Thutrang T; Feng, Tao; Luke, Amy; Shriner, Daniel; Ardlie, Kristin; Rotimi, Charles; Wilks, Rainford; Forrester, Terrence; McKenzie, Colin A; Lyon, Helen N; Cooper, Richard S; Zhu, Xiaofeng; Hirschhorn, Joel N

Fine mapping of the association with obesity at the FTO locus in African-derived populations

对非洲裔人群中FTO基因座与肥胖关联的精细定位

Hassanein, Mohamed T; Lyon, Helen N; Nguyen, Thutrang T; Akylbekova, Ermeg L; Waters, Kevin; Lettre, Guillaume; Tayo, Bamidele; Forrester, Terrence; Sarpong, Daniel F; Stram, Dan O; Butler, Johannah L; Wilks, Rainford; Liu, Jiankang; Le Marchand, Loic; Kolonel, Laurence N; Zhu, Xiaofeng; Henderson, Brian; Cooper, Richard; McKenzie, Colin; Taylor, Herman A Jr; Haiman, Christopher A; Hirschhorn, Joel N