云南高校图书馆联盟文献共享服务平台- TRISOMY

TRISOMY: 作品数：29被引量：43H指数：4; 导出分析报告; 相关作者：黄小明黄之虎黄翠波更多>>; 相关机构：中国传媒大学广西壮族自治区民族医院深圳奥斯艾科技有限公司浙江大学医学院附属儿童医院更多>>; 相关期刊：《Open Journal of Genetics》《Science China(Life Sciences)》《World Journal of Gastroenterology》《Journal of Hainan Medical University》更多>>; 相关基金：国家自然科学基金国家科技支撑计划浙江省分析测试基金更多>>

Clinical manifestations and the prenatal diagnosis of trisomy 7 mosaicism:Two case reports被引量：1: 《World Journal of Clinical Cases》2024年第8期1544-1548,共5页Fei Hou Yan Li Hua Jin; BACKGROUND The clinical manifestations of trisomy 7 mosaicism are diverse and nonspecific,so prenatal diagnosis is very difficult.CASE SUMMARY Two pregnant women with abnormal prenatal screening results were included....; 关键词：Trisomy 7 mosaicism Copy number variation sequencing Whole-exome sequencing Karyotype analysis Prenatal diagnosis Case report

Mosaic trisomy 12 diagnosed in a female patient: clinical features, genetic analysis, and review of the literature: 《World Journal of Pediatrics》2021年第4期438-448,共11页Daniela Hainz Marcus Krüger Daniela Reber Karl Mehnert Theresa Brunet Gabriele Lederer Sabine Langer-Freitag Julia Hoefele; Open Access funding enabled and organized by Projekt DEAL.; Mosaic trisomy 12 is a rare genetic condition with a highly variable phenotype.Clinical features associated with this condition include developmental delay,intellectual disability,dysmorphic facial features,short stat...; 关键词：MOSAIC FEMALE CLINICAL

Evidence of compliance with and effectiveness of guidelines for noninvasive prenatal testing in China:a retrospective study of 189,809 cases被引量：10: 《Science China(Life Sciences)》2020年第3期319-328,共10页Chan Tian Tao Deng Xiuhuang Zhu Chen Gong Yangyu Zhao Yuan Wei Rong Li Xiufeng Xu Miaonan He Zhiwei Zhang Jing Cheng Mol BenWillem Jie Qiao; supported by grants from the National Key Technology R&D Program (2015BAI13B06).; In China,the medical guidelines recommend performing noninvasive prenatal testing(NIPT)with caution for pregnant women aged 35 years or older.However,the Mother and Child Health Care Law suggests that all primiparous ...; 关键词：NIPT risk for TRISOMY NIPT policy in China PRENATAL diagnosis MATERNAL age

Ocular Findings in Trisomy 13: Nasolacrimal Duct Stenosis Case Series: 《Open Journal of Ophthalmology》2019年第4期161-164,共4页Samiksha Fouzdar Jain Yan Saoirse Brian Conahan Donny Suh; Trisomy 13, also known as Patau Syndrome, is a congenital malformation that leads to several ocular anomalies, of which cataracts are the most common, as well as iris and retinal colobomas, persistent hyperplastic pri...; 关键词：TRISOMY 13 Nasolacrimal DUCT New Finding in Patau SYNDROME

Prenatal genetic diagnosis in a fetus with partial trisomy 18q that inherited from his mother's chromosomal rearrangement: 《Journal of Hainan Medical University》2019年第20期63-66,共4页Hui Lu Ming-ong Li Xin-Huai Xue Guan-Hui Wang Tian-Ying Yun Yan-Lin Ma; Major Science and Technology Program of Hainan Province(No.ZDKJ2017007);National Natural Science Foundation of China(No.81660433,81460034,81460236);National Special Project for International Science and Technology Cooperation(No.2014DFA30180);2018 Natural Science Foundation of Hainan Youth Fund Project(No.818QN315).; Objective:To report the recurrent spontaneous abortion that were caused by the mother's chromosomal rearrangement which was 18 chromosome inversion;and cytogenetic analysis of the fetal amniotic fluid was performed.Me...; 关键词：CHROMOSOME inversion Partial TRISOMY 18q syndrome PRENATAL dignosis CYTOGENETIC

基于下一代自动驾驶汽车智能挡风玻璃的“Trisomy”概念设计: 《科技传播》2019年第3期71-75,83,共6页徐鹏熊隽晗; 近年来,随着互联网和人工智能与传统的汽车产业的融合发展,无人驾驶汽车得到迅速发展。在不远的将来,自动驾驶汽车将把"司机"从驾驶中解放出来,驾驶的功能性将不再重要,而乘坐的体验感将会成为重点。而挡风玻璃可以作为车内屏幕,成为优...; 关键词：自动驾驶汽车大数据新媒体场景化

Retrospective Descriptive Analysis of the Combined First Trimester of Pregnancy Screening in the Period Included from February 2016 to March 2017, Maternal Fetal Medicine Unit, San Juan de Dios Hospital: 《Open Journal of Obstetrics and Gynecology》2018年第10期891-899,共9页Carina Breuning Velásquez Oscar Durán Soto Joaquin Bustillos Villavicencio Jorge Mora Sandí Eugenio Calderon Veronica Saborio Leonardo Jimenez Pablo Parra; A retrospective descriptive study is conducted at the San Juan de Dios Hospital, San José, Costa Rica, during the period from February 2016 to March 2017, with a total of 37 patients from which a combined screening d...; 关键词：Protocol COMBINED SCREENING First Trimester ANEUPLOIDY TRISOMY

Noninvasive Prenatal Testing for Fetal Chromosomal Abnormalities Using Massively Parallel Sequencing: Clinical Experience from 7910 Korean Pregnancies被引量：2: 《Open Journal of Genetics》2018年第3期42-53,共12页Seon Young Yun Hyuk Jung Kwon Amit Goyal Katiyar P. Shashank Heesu Im Joungsu Joo Jin-Sik Bae Min Seob Lee Sunghoon Lee; Objective: The purpose of this study is to review the clinical experience and performance of noninvasive prenatal testing (NIPT) method, using cell-free DNAto detect chromosomes 21, 18, 13, X, and Y abnormalities in o...; 关键词：CELL-FREE DNA TRISOMY Clinical Performance MOSAICISM CPM FETAL Abnormality NONINVASIVE Prenatal Testing NIPT

Comorbidities in Down syndrome livebirths and health care intervention: an initial experience from the birth defects registry in Southern Thailand被引量：3: 《World Journal of Pediatrics》2017年第2期152-157,共6页Somchit Jaruratanasirikul Wannee Limpitikul Pathikan Dissaneevate Paveena Booncharoen Pongsak Tantichantakarun; Background:Down syndrome (DS) is the most common chromosomal disorder causing mental retardation with a worldwide average prevalence of 1-2 cases per 1000 births.This study aimed to determine the comorbidities associa...; 关键词：DEVELOPMENTAL INTERVENTION Down SYNDROME TRISOMY 21

A population-based study of prevalence of Down syndrome in Southern Thailand被引量：1: 《World Journal of Pediatrics》2017年第1期63-69,共7页Somchit Jaruratanasirikul Ounjai Kor-anantakul Montira Chowvichian Wannee Limpitikul Pathikan Dissaneevate Nitthakarn Intharasangkanawin Atchara Sattapanyo Sermsri Pathompanitrat; Background:Down syndrome(Ds)is the most common chromosomal disorder that causes mental retardatiOn.In 2009,a population-based birth defects study was implemented in three provinces in southern Thailand.This study aime...; 关键词：BIRTH defect REGISTRY Down syndrome PRENATAL screening TERMINATION of PREGNANCY TRISOMY 21

TRISOMY