云南高校图书馆联盟文献共享服务平台- MOSAICISM

MOSAICISM: 作品数：28被引量：31H指数：3; 导出分析报告; 相关领域：医药卫生更多>>; 相关作者：魏丽萍更多>>; 相关机构：北京大学更多>>; 相关期刊：《Journal of Ocean University of China》《World Journal of Dermatology》《Journal of Cosmetics, Dermatological Sciences and Applications》《Open Journal of Genetics》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中国博士后科学基金更多>>

A Boy 45X/46XY Mosaicism with ADHD: A Case Report: 《Case Reports in Clinical Medicine》2024年第12期566-571,共6页Hsin-I Wu Chang-Hsien Yu; 45X/46XY mosaicism is a rare chromosome disease. The apparent prevalence of males and females with 45X/46XY is 5.6 and 2.1 per 100,000 liveborn males and females. We present a boy who had a developmental delay with hy...; 关键词：45X/46XY Mosaicism ADHD Developmental Delay

Genomic Mosaicism of the Brain:Origin,Impact,and Utility: 《Neuroscience Bulletin》2024年第6期759-776,共18页Jared H.Graham Johannes C.M.Schlachetzki Xiaoxu Yang Martin W.Breuss; support from the Boettcher Foundation and the National Institutes of Health(1K99HD111686).; Genomic mosaicism describes the phenomenon where some but not all cells within a tissue harbor unique genetic mutations.Traditionally,research focused on the impact of genomic mosaicism on clinical phenotype—motivate...; 关键词：GENOMICS Brain development Brain homeostasis Genomic mosaicism

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

Mosaicism of a novel variant in the ANKRD11 gene in a child with a mild KBG phenotype:A case report: 《World Journal of Medical Genetics》2023年第2期21-27,共7页Roberto Franceschi Francesca Rivieri Antonio Novelli Daniele Ferretti Adriano Anesi Massimo Soffiati Giulia Porretti Evelina Maines Mafalda Mucciolo Giorgio Radetti; BACKGROUND KBG syndrome is likely underdiagnosed because of mild and non-specific features in some affected patients especially before the upper permanent central incisors eruption at about the age of 7-8 years.Somati...; 关键词：ANKRD11 KBG MOSAIC HESX1 CHILD Case report

Single-cell Sequencing Reveals Clearance of Blastula Chromosomal Mosaicism in In Vitro Fertilization Babies: 《Genomics, Proteomics & Bioinformatics》2022年第6期1224-1231,共8页Yuan Gao Jinning Zhang Zhenyu Liu Shuyue Qi Xinmeng Guo Hui Wang Yanfei Cheng Shuang Tian Minyue Ma Hongmei Peng Lu Wen Fuchou Tang Yuanqing Yao; the National Key R&D Program of China(Grant No.2018YFC1003100).; Although chromosomal mosaic embryos detected by trophectoderm(TE)biopsy offer healthy embryos available for transfer,high-resolution postnatal karyotyping and chromosome testing of the transferred embryos are insuffic...; 关键词：MOSAICISM Pre-implantation genetic testing for aneuploidy Next-generation sequencing Single-cell multi-omics sequencing Mosaic embryo transfer

Isodicentric Ychromosome: Case Study: 《Open Journal of Genetics》2021年第3期56-62,共7页Amal Al Wathnani Suha Tashkandi Khelad Al Saidi Kholoud Al Muteiri Wasmaya Al Enezi; Isodicentric chromosomes are a frequently appearing abnormality in the human Y chromosome. Making predictions regarding the phenotypic outcomes of a variety of duplications/deletions in the dicentric Y chromosome gene...; 关键词：Isodicentric Y MOSAICISM Fluorescence in Situ Hybridization SRY G-Banded Karyotyping INFERTILITY

Genomic mosaicism due to homoeologous exchange generates extensive phenotypic diversity in nascent allopolyploids被引量：3: 《National Science Review》2021年第5期17-31,共15页Ying Wu Fan Lin Yao Zhou Jie Wang Shuai Sun Bin Wang Zhibin Zhang Guo Li Xiuyun Lin Xutong Wang Yue Sun Qianli Dong Chunming Xu Lei Gong Jonathan F.Wendel Zhiwu Zhang Bao Liu; supported by the National Key Research and Development Program of China(2016YFD0102003 to B.L.);the National Natural Science Foundation of China(91131000 to B.L and 31900197 to Y.W.);the China Postdoctoral Science Foundation(2018M631853 and 2019T120228 to Y.W.);the US National Science Foundation(to J.F.W.)。; Allopolyploidy is an important process in plant speciation,yet newly formed allopolyploid species typically suffer from extreme genetic bottlenecks.One escape from this impasse might be homoeologous meiotic pairing,du...; 关键词：nascent allopolyploidy homoeologous recombination phenotypic diversity plant evolution GWAS dosage effects EPISTASIS

Warkany Syndrome Revealed by Recurrent Infections: Case Report: 《Open Journal of Genetics》2021年第1期1-8,共8页Karima Chraiet Rezgani Rim Abdelkarim; Introduction: Warkany syndrome, also called trisomy 8 mosaicism (T8M), is a rare genetic abnormality characterized by a large phenotypic variability. This heterogeneity leads to delay...; 关键词：Warkany Syndrome Trisomy 8 Mosaicism Recurrent Infections Development Retardation

SRY-negative 45,X/46,XY adult male with complete masculinization and infertility:A case report and review of literature被引量：1: 《World Journal of Clinical Cases》2020年第24期6380-6388,共9页Yan-Hua Wu Hui Bao Ying-Jian Chen Ke-Na Sun; BACKGROUND 45,X/46,XY mosaicism is a rare chromosomal abnormality with a wide range ofphenotypes in both males and females, from normal individuals with differentdegrees of genital ambiguity to those who show signs of...; 关键词：Azoospermia Sex chromosome MOSAICISM Y chromosomal microdeletions SRY-negative Case report

Gonadal dysgenesis in Turner syndrome with Y-chromosome mosaicism:Two case reports被引量：2: 《World Journal of Clinical Cases》2020年第22期5737-5743,共7页Xue-Fei Leng Ke Lei Yi Li Fei Tian Qin Yao Qing-Mei Zheng Zhi-Hong Chen; BACKGROUND Turner syndrome(TS)has a variety of different karyotypes,with a wide range of phenotypic features,but the specific karyotype may not always predict the phenotype.TS with Y chromosome mosaicism may have mixe...; 关键词：Turner syndrome Gonadal dysgenesis VIRILIZATION Y chromosome mosaicism GONADOBLASTOMA Case report

MOSAICISM