Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial CauseFrontiers in Genetics - Tập 9 - Trang 381877 - 2018
Theunissen, Tom E. J., Nguyen, Minh, Kamps, Rick, Mulder-Den Hartog, Elvira N. M., Schoonderwoerd, Kees, Fuchs, Sabine A., Vanoevelen, Jo, Szklarczyk, Radek, Gerards, Mike, Smeets, Hubert J. M.
#mitochondrial disease; Next-generation sequencing; mtDNA sequencing; Whole-exome sequencing; diagnostic yield
Candidate Genes for Age at Menarche Are Associated With Uterine LeiomyomaFrontiers in Genetics - Tập 11
Irina Ponomarenko, Evgeny Reshetnikov, Alexey Polonikov, I.N. Verzilina, Inna Sorokina, Anna Yermachenko, Volodymyr Dvornyk, Mikhail Churnosov
Age at menarche (AAM) is an important marker of the pubertal development and function of the hypothalamic–pituitary–ovarian system. It was reported as a possible factor for a risk of uterine leiomyoma (UL). However, while more than 350 loci for AAM have been determined by genome-wide association studies (GWASs) to date, no studies of these loci for their association with UL have been condu...... hiện toàn bộ