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Whole exome sequencing and trio analysis to broaden the variant spectrum of genes in idiopathic hypogonadotropic hypogonadism

机译：全面exome测序和三重血分析扩大特发性低血管增不基因的性腺性腺增多症中基因的变体谱

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期刊名称 Asian Journal of Andrology
作者
Jian Zhang; Shu-Yan Tang; Xiao-Bin Zhu; Peng Li; Jian-Qi Lu; Jiang-Shan Cong; Ling-Bo Wang; Feng Zhang; Zheng Li;
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作者单位

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年(卷),期 2021(23),3
年度 2021
页码 288–293
总页数 10
原文格式 PDF
正文语种
中图分类泌尿科学（泌尿生殖系疾病）;小儿泌尿科学;肾疾病;
关键词

机译：特发性低血管同时性的性腺失败性;孕产妇遗传;寡发遗传;整个Exome测序;

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专利

1. Whole exome sequencing and trio analysis to broaden the variant spectrum of genes in idiopathic hypogonadotropic hypogonadism [J] . Jian Zhang, Shu-Yan Tang, Xiao-Bin Zhu, Asian journal of andrology . 2021,第3期

机译：全面序列测序和三重血分析，扩大特发性低血管发育性腺病药中基因的变体谱
2. Peripheral Precocious Puberty of Ovarian Origin in a Series of 18 Girls: Exome Study Finds Variants in Genes Responsible for Hypogonadotropic Hypogonadism [J] . Raja Brauner, Joelle Bignon-Topalovic, Anu Bashamboo, Frontiers in Pediatrics . 2021,第a期

机译：卵巢起源的外围急性青春期一系列18个女孩：exome研究发现了对低因素性腺性腺失败的基因中的变体
3. Targeted Gene Panel Sequencing for Molecular Diagnosis of Kallmann Syndrome and Normosmic Idiopathic Hypogonadotropic Hypogonadism [J] . Kim Ja Hye, Seo Go Hun, Kim Gu-Hwan, Experimental and clinical endocrinology and diabetes: Official journal, German Society of Endocrinology [and] German Diabetes Association . 2019,第8期

机译：Kallmann综合征分子诊断的靶向基因面板测序和Normosmic特发性低血管性腺病药
4. Homozygosity Mapping using Whole-Exome Sequencing: A Valuable Approach for Pathogenic Variant Identification in Genetic Diseases [C] . Jorge Oliveira, Rute Pereira, Rosario Santos, International Conference on Bioinformatics Models, Methods and Algorithms . 2017

机译：纯合子映射使用全exome测序：一种有价值的遗传疾病致病变异鉴定的方法
5. Statistical Analysis of Genetic Sequence Variants in Whole Exome Sequencing Data from Patients with Prostate Cancer [D] . Ofori-Minta, Kelvin. 2021

机译：从前列腺癌患者的整个外壳测序数据中遗传序列变异的统计分析
6. Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families [O] . Bashayer Al-Mubarak, Mohamed Abouelhoda, Aisha Omar, -1

机译：整个外显子组测序揭示自闭症谱系障碍的遗传变异和从头变异：来自沙特家庭的三项研究
7. Peripheral Precocious Puberty of Ovarian Origin in a Series of 18 Girls: Exome Study Finds Variants in Genes Responsible for Hypogonadotropic Hypogonadism [O] . Raja Brauner, Joelle Bignon-Topalovic, Anu Bashamboo, 2021

机译：卵巢起源的外围急性青春期在一系列18个女孩：Exome研究发现了对低因素过度发作性的基因中的变体

Whole exome sequencing and trio analysis to broaden the variant spectrum of genes in idiopathic hypogonadotropic hypogonadism

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