云南高校图书馆联盟文献共享服务平台- MICRODELETION

MICRODELETION: 作品数：26被引量：117H指数：7; 导出分析报告; 相关领域：医药卫生更多>>; 相关作者：卢光琇李麓芸傅俊江刘睿智李磊磊更多>>; 相关机构：复旦大学上海交通大学中南大学吉林大学第一医院更多>>; 相关期刊：《Chinese Medical Journal》《Genes & Diseases》《生殖医学杂志》《World Journal of Clinical Urology》更多>>; 相关基金：国家自然科学基金国家重点基础研究发展计划北京市自然科学基金更多>>

Microdeletion on Xq27.1 in a Chinese VACTERL-Like Family with Kidney and Anal Anomalies: 《Biomedical and Environmental Sciences》2024年第5期503-510,共8页LI Min ZHANG Yu Lan ZHANG Kai Li LI Ping Ping LYU Yu Han LIANG Ya Xin YU Yue; National High Level Hospital Clinical Research Funding(BJ-2018-204,BJ-2023-112)。; Objective VATER/VACTERL-like association is associated with adverse pregnancy outcomes.Genetic evidence of this disorder is sporadic.In this study,we aimed to provide genetic insights to improve the diagnosis of VACTE...; 关键词：Prenatal diagnosis VACTERL whole-genome sequencing whole-exome sequencing X-LINKED

Cytogenetic analysis and family research for two cases of chromosome 6 microduplication and chromosome 9 microdeletion:Different clinical manifestations: 《Gynecology and Obstetrics Clinical Medicine》2023年第1期65-69,共5页Lin Zhang Mei Hong Ren Guining Song Xuexia Liu Yanhui Li Chengling Zhang Xiaohong Zhang; Natural Science Foundation of Xinjiang Uygur Autonomous Region[No.2018D01A50].; Dear editor:Chromosomal abnormalities are the result of alteration in the number or structure of chromosomes causing diverse functional problems to various organs.1 Recently,though strategies for prenatal diagnosis fo...; 关键词：ORGANS DIAGNOSIS analysis

Microdeletions and vertical transmission of the Y-chromosome azoospermia factor region: 《Asian Journal of Andrology》2023年第1期5-12,共8页Chen-Yao Deng Zhe Zhang Wen-Hao Tang Hui Jiang; supported by National Natural Science Foundation of China (No.81901535 and No.82071698);the National Key Research&Developmental Program of China (No.2021YFC2700203);Natural Science Foundation of Beijing Municipality (No.7222208).; Spermatogenesis is regulated by several Y chromosome-specific genes located in a specific region of the long arm of the Y chromosome,the azoospermia factor region(AZF).AZF microdeletions are the main structural chromo...; 关键词：azoospermia factor male infertility MICRODELETION vertical transmission

Seizures as the first manifestation of chromosome 2q24.2-q24.3 in a two and a half years old girl: A case report: 《Gynecology and Obstetrics Clinical Medicine》2021年第3期169-172,共4页Wen-cheng Dai Xue-xia Liu Hui-jun Li Gui-ning Song Yan-hui Li Cheng-ling Zhang Lin Zhang; supported by Natural Science Foundation of Xinjiang Uygur Autonomous Region[No.2018D01A50].; Background:Mutations and/or duplications in the chromosome 2q24.3 region are known to be responsible for various epilepsy phenotypes.However,microdeletion in childhood epilepsy is rarely reported.Case presentation:A t...; 关键词：SEIZURE Chromosome 2q22.2-q24.3 MICRODELETION Maternal origin

Association of clinical features with sex hormone levels in 63 azoospermic patients with microdeletion of azoospermia factor C region: 《China Medical Abstracts(Internal Medicine)》2021年第2期90-90,共1页PAN Zhouhui; Objective To analyze the clinical features of 63azoospermic patients with microdeletion of azoospermia factor C region(AZFc)and their relationship with sex hormones.Methods The clinical data of 63 azoospermic patients...; 关键词：CLINICAL PATIENTS FEATURES

Prenatal Diagnosis of Abnormal Sternum Development and Dilated Aortic Root in a Fetus with a Novel 204 kb Microdeletion of the TGFRB2 Gene: 《Open Journal of Obstetrics and Gynecology》2016年第10期601-605,共5页Rebecca A. Feldman Justin S. Brandt Beverly Coleman Michael T. Mennuti; The Loeys-Dietz syndrome (LDS) is a connective tissue disorder that is associated with vascular abnormalities, including aggressive aortic aneurysms, as well as skeletal and craniofacial malformations. The molecular m...; 关键词：Loeys-Dietz Syndrome Connective Tissue Disorders Dilated Aortic Root TGFBR1 TGFBR2

Syndromic craniosynostosis associated with microdeletion of chromosome 19p13.12-19p13.2: 《Genes & Diseases》2015年第4期347-352,共6页Sarah M.Lyon Darrel Waggoner Sara Halbach Erik C.Thorland Leila Khorasani Russell R.Reid; Craniosynostosis,a condition in which the cranial sutures prematurely fuse,can lead to elevated intracranial pressure and craniofacial abnormalities in young children.Currently surgical intervention is the only therap...; 关键词：Chromosome 19 Craniofacial syndrome CRANIOSYNOSTOSIS MICROARRAY MICRODELETION

Genetics and male infertility: 《World Journal of Clinical Urology》2015年第1期38-47,共10页Gulay Gulec Ceylan Cavit Ceylan; The goal of this review is to explain the requirement for understanding the genetic structure of infertility arising from male factor and to discuss the essentials of these genetic elements(2). The majority of the pop...; 关键词：Male INFERTILITY CHROMOSOMAL ABNORMALITY Y chromosome MICRODELETION GENETICS AZOOSPERMIA factor

Investigation on Azoospermia Factor (AZF) Microdeletion and Sex-determining Region Y (SRY) of the Y Chromosome in Male Infertility: 《Journal of Reproduction and Contraception》2013年第2期88-94,共7页Li-hua LU Fei-xue HU Song GE; Objective To determine the incidence of azoospermia faetor （AZF） microdeletions of Y chromosome in male infertility and to investigate the mechanism of sex-determining region Y （SRY） in sex differentiation. Method...; 关键词：sex-determining region Y （SRY） azoospermia factor （AZF） sex differentiation SPERMATOGENESIS

Chromosomal disorders and male infertility被引量：26: 《Asian Journal of Andrology》2012年第1期32-39,175,共9页Gary L Harton Helen G Tempest; Infertility in humans is surprisingly common occurring in approximately 15% of the population wishing to start a family. Despite this, the molecular and genetic factors underlying the cause of infertility remain large...; 关键词：chromosomal aneuploidy chromosomal translocation intracytoplasmic sperm injection in vitro fertilization male infertility non-disjunction preimplantation genetic diagnosis Y-chromosome microdeletion

MICRODELETION