云南高校图书馆联盟文献共享服务平台- RETT

RETT: 作品数：23被引量：51H指数：3; 导出分析报告; 相关作者：吴希如潘虹包新华孟洪弟吴希如更多>>; 相关机构：北京大学第一医院佳木斯大学北京大学广州普世利华科技有限公司更多>>; 相关期刊：《临床神经病学杂志》《中华医学遗传学杂志》《中国金属通报》《Frontiers of Medicine》更多>>; 相关基金：国家自然科学基金山东省自然科学基金黑龙江省卫生厅科研项目湖南省自然科学基金更多>>

Pitt-Hopkins综合征临床特征及鉴别诊断3例报告: 《中国实用儿科杂志》2024年第1期68-72,共5页盛倩倩赵澎陈淑娟辛庆刚; 天津市医学重点学科(专科)建设项目(TJYXZDXK-040A)。; 对2019年5月至7月天津市儿童医院康复科收住院的3例TCF4基因突变所致Pitt-Hopkins综合征(PTHS)患儿临床特征的分析,3例均行全外显子测序,对阳性检测结果用一代测序进行验证,总结其临床特征,并与其他Rett样综合征进行鉴别,结果发现,3例...; 关键词：Pitt-Hopkins综合征 Rett样综合征特殊面容 TCF4基因

胼胝体全段切开治疗Rett综合征患者一例: 《脑与神经疾病杂志》2023年第2期83-87,共5页陈淼彬郭强费凌霞谭红平唐晓伟; 广东省医学科学技术研究基金(A2021166)。; 目的了解Rett综合征(RTT)所致癫痫的临床及遗传学特点,并探讨胼胝体全段切开术治疗Rett综合征所致癫痫的有效性。方法分析2021年广东三九脑科医院癫痫中心收治的1例RTT所致癫痫患者的临床资料并进行随访。结果患者甲基CpG结合蛋白2 (...; 关键词：RETT综合征胼胝体全段切开术药物难治性癫痫 MECP2基因

WDR45基因突变致Rett样症状与痉挛共存发作一例: 《癫痫杂志》2021年第4期379-383,共5页李沁晏廉荣镇; 湖南省自然科学基金(2017JJ3142);郴州市级重点研发与技术创新引导专项(ZDYF2020119)。; WDR45基因突变为X连锁显性遗传,多为女性发病,近来研究发现,男性嵌合体及半合子也可发病,具有和女性患儿相同的临床表现[1]。由于WDR45基因突变为β螺旋蛋白相关性神经变性病(beta-propeller protein associated neurodegeneration,BPAN...; 关键词：锥体外系症状肌张力障碍痉挛发作进行性加重青中年静止性基因突变婴儿痉挛症

Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A(KAT6A): 《Journal of Genetics and Genomics》2020年第10期650-654,共5页Simranpreet Kaur Nicole J.Van Bergen Bruria Ben-Zeev Emanuela Leonardi Tiong Y.Tan David Coman Benjamin Kamien Susan M.White Miya St John Dean Phelan Kristin Rigbye Sze Chern Lim Michelle C.Torres Melanie Marty Elena Savva Teresa Zhao Sean Massey Alessandra Murgia Wendy A.Gold John Christodoulou; supported by the Victorian Government’s Operational Infrastructure Support Program;Research Training Program scholarship(to S.K.);supported by Italian Ministry of Health Young Investigator(GR-2011-02347754 to E.L.);Fondazione Istituto di Ricerca PediatricaeCittàdella Speranza(18-04 to E.L.);supported by the Australian NHMRC Centre of Research Excellence in Speech and Language Neurobiology(CRE-SLANG)(1116976); Pathogenic variants in methyl-Cp G protein 2(MECP2;OMIM300005)result in an X-linked,severe,and progressive epigenetic disorder,Rett syndrome(RTT,OMIM:312750),that predominantly affects females(Rett,1966).Using Neul’s...; 关键词：RETT al. LANDSCAPE

三例Rett综合征患者的MECP2基因变异分析被引量：2: 《中华医学遗传学杂志》2020年第9期968-971,共4页牛玉萍陈晓伟李杰黄色新徐佩文高媛; 国家重点研发计划(2018YFC1004900,2018YFC1003100);山东省重点研发计划(2017G006035);山东省自然科学基金(ZR2018PH006,ZR2018MC014)。; 目的对3例Rett综合征患者进行MECP2基因变异分析,明确其致病原因。方法采集3例患者及其父母外周血提取DNA,设计特异性引物覆盖基因全外显子及其侧翼序列,通过PCR及Sanger测序法和多重连接探针扩增技术(multiplex ligation-dependent pro...; 关键词：RETT综合征 MECP2基因新发变异

Positive effects of low dose IMPX977 on Rett syndrome related MeCP2 targeted-genes被引量：1: 《Chinese Herbal Medicines》2019年第1期39-44,共6页Ying Zhao Liang Le Yue-qiang Song Li-xin Qi Hui Fu Xue Bai Si-guang Li Xin-sheng Nan Ke-ping Hu; supported by National Natural Science Foundation of China(No.81271255); Objective: To investigate the effect of IMPX977 on MeCP2 targeted-genes and the feasibility of IMPX977 acting as a therapeutic candidate drug for Rett syndrome by genomewide transcription profiling.Methods: Rats' cort...; 关键词：IMPX977 MECP2 RETT syndrome RNA-seq

Structural investigation of Rett-inducing MeCP2 mutations: 《Genes & Diseases》2019年第1期31-34,共4页Ottavia Spiga Simone Gardini Nicole Rossi Vittoria Cicaloni Francesco Pettini Neri Niccolai Annalisa Santucci; X-ray structure of methyl-CpG binding domain(MBD)of MeCP2,an intrinsically disordered protein(IDP)involved in Rett syndrome,offers a rational basis for defining the spatial distribution for most of the sites where mut...; 关键词：DNA binding domains MECP2 Mutation distribution Protein structure Rett syndrome

Comparison of Stretta procedure and toupet fundoplication for gastroesophageal reflux disease-related extra-esophageal symptoms被引量：18: 《World Journal of Gastroenterology》2015年第45期12882-12887,共6页Chao Yan Wei-Tao Liang Zhong-Gao Wang Zhi-Wei Hu Ji-Min Wu Chao Zhang Mei-Ping Chen; AIM: To compare the outcomes between the Stretta procedure and laparoscopic toupet fundoplication(LTF) in patients with gastroesophageal reflux disease(GERD)-related extra-esophageal symptoms.METHODS: From January 201...; 关键词：GASTROESOPHAGEAL REFLUX disease Extraesophageal sy

Outcome of Stretta radiofrequency and fundoplication for GERD- related severe asthmatic symptoms被引量：10: 《Frontiers of Medicine》2015年第4期437-443,共7页Zhiwei Hu Jimin Wu Zhonggao Wang Yu Zhang Weitao Liang Chao Yan; This study aimed to investigate the outcome of treatment with Stretta radiofrequency （SRF） or laparoscopic Nissen fundoplication （LNF）. A total of 137 gastroesophageal reflux disease （GERD） patients with severe ...; 关键词：ASTHMA gastroesophageal reflux Stretta radiofrequency laparoscopic Nissen fundoplication

Fatty Acids and Autism Spectrum Disorders: The Rett Syndrome Conundrum: 《Food and Nutrition Sciences》2013年第9期71-75,共5页Claudio De Felice Cinzia Signorini Silvia Leoncini Alessandra Pecorelli Thierry Durand Jean-Marie Galano Valérie Bultel-Poncé Alexandre Guy Camille Oger Gloria Zollo Giuseppe Valacchi Lucia Ciccoli Joussef Hayek; Autism spectrum disorders (ASDs) are epidemically explosive clinical entities, but their pathogenesis is still unclear and a definitive cure does not yet exist. Rett syndrome (RTT) is a rare genetically determined cau...; 关键词：FATTY ACIDS Arachidonic ACID Docosahexaenoic ACID Adrenic ACID Eicosapentaenoic ACID RETT Syndrome AUTISM Spectrum DISORDERS

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