Guidelines for reporting clinical features in cases with MECP2 mutations.

Kerr AM; Nomura Y; Armstrong D; Anvret M; Belichenko PV; Budden S; Cass H; Christodoulou J; Clarke A; Ellaway C; dEsposito M; Francke U; Hulten M; Julu P; Leonard H; Naidu S; Schanen C; Webb T; Engerstrom IW; Yamashita Y; Segawa M

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Guidelines for reporting clinical features in cases with MECP2 mutations.

机译：MECP2突变病例的临床特征报告指南。

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An international group recommends that papers relating phenotypes to genotypes involving mutations in the X chromosome gene MECP2 should provide a minimum data set reporting the range of disturbances frequently encountered in Rett Syndrome. A simple scoring system is suggested which will facilitate comparison among the various clinical profiles. Features are described which should prompt screening for MECP2 mutations.

机译：一个国际小组建议，将表型与涉及X染色体基因MECP2突变的基因型相关的论文，应提供一个最低限度的数据集，以报告在瑞特综合症中经常遇到的障碍的范围。建议使用一个简单的评分系统，这将有助于比较各种临床特征。描述了应该提示筛选MECP2突变的特征。

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《Brain & Development 》 |2001年第4期| 共4页
作者
Kerr AM; Nomura Y; Armstrong D; Anvret M; Belichenko PV; Budden S; Cass H; Christodoulou J; Clarke A; Ellaway C; dEsposito M; Francke U; Hulten M; Julu P; Leonard H; Naidu S; Schanen C; Webb T; Engerstrom IW; Yamashita Y; Segawa M;
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正文语种 eng
中图分类神经病学与精神病学 ;
关键词
DNA-Binding Proteins; Dosage Compensation Genetics; Mutation; Rett Syndrome; DNA结合蛋白质类; 突变; Rett 综合征;

机译：DNA-Binding Proteins;Dosage Compensation Genetics;Mutation;Rett Syndrome;DNA结合蛋白质类;突变;Rett 综合征;

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1. Guidelines for reporting clinical features in cases with MECP2 mutations. [J] . Kerr AM, Nomura Y, Armstrong D, Brain & Development . 2001 ,第4期

机译：MECP2突变病例的临床特征报告指南。
2. Rett syndrome: clinical manifestations in males with MECP2 mutations. [J] . Zeev BB, Yaron Y, Schanen NC, Journal of child neurology . 2002 ,第1期

机译：Rett综合征：具有MECP2突变的男性的临床表现。
3. Molecular genetics of Rett syndrome and clinical spectrum of MECP2 mutations. [J] . Shahbazian MD, Zoghbi HY Current opinion in neurology . 2001 ,第2期

机译：Rett综合征的分子遗传学和MECP2突变的临床范围。
4. Clinical compliance of viewing conditions in radiology reporting environments against current guidelines and standards [C] . Daly S., Rainford L., Butler ML. Conference on image perception, observer performance, and technology assessment . 2014

机译：在放射学报告环境中查看条件是否符合当前指南和标准的临床要求
5. Reported knowledge and management of acute low back pain by United States Army nurse practitioners as compared to clinical practice guidelines published by the Agency for Health Care Policy and Research. [D] . Davis, Jack Mathew. 1999

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6. Developing clinical practice guidelines: reviewing reporting and publishing guidelines; updating guidelines; and the emerging issues of enhancing guideline implementability and accounting for comorbid conditions in guideline development [O] . Paul Shekelle, Steven Woolf, Jeremy M Grimshaw, 2012

机译：制定临床实践指南：审查报告和发布指南；更新准则；以及在准则制定中加强准则的可实施性和并存条件的核算的新问题
7. ACC/AHA/ASNC Guidelines for the Clinical Use of Cardiac Radionuclide Imaging—Executive Summary A Report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (ACC/AHA/ASNC Committee to Revise the 1995 Guidelines for the Clinical Use of Cardiac Radionuclide Imaging)44The ACC/AHA Task Force on Practice Guidelines makes every effort to avoid any actual or potential conflicts of interest that might arise as a result of an outside relationship or personal interest of a member of the writing panel. Specifically, all members of the writing panel are asked to provide disclosure statements of all such relationships that might be perceived as real or potential conflicts of interest. These statements are reviewed by the parent task force, reported orally to all members of the writing panel at the first meeting, and updated as changes occur.55This document was approved by the American College of Cardiology Foundation Board of Trustees in July, 2003, the American Heart Association Science Advisory and Coordinating Committee in July, 2003, and the American Society of Nuclear Cardiology Board of Directors in July, 2003.66When citing this document, the American College of Cardiology Foundation, the American Heart Association, and the American Society of Nuclear Cardiology request that the following citation format be used: Klocke FJ, Baird MG, Bateman TM, Berman DS, Carabello BA, Cerqueira MD, DeMaria AN, Kennedy JW, Lorell BH, Messer JV, O’Gara PT, Russell RO Jr, St. John Sutton MG, Udelson JE, Verani MS, Williams KA. ACC/AHA/ASNC guidelines for the clinical use of cardiac radionuclide imaging—executive summary: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (ACC/AHA/ASNC Committee to Revise the 1995 Guidelines for the Clinical Use of Radionuclide Imaging). J Am Coll Cardiol 2003;42:1318–33.77(J Am Coll Cardiol 2003;42:1318–33)88©2003 by the American College of Cardiology Foundation and the American Heart Association, Inc. [O] . Klocke Francis J, Baird Michael G, Lorell Beverly H, 2003

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8. Primary Care-Focused, Computer-based Clinical Decision Support Tool to Assess Patients' Risk for Deleterious BRCA Mutations. Effective Health Care Program Research Report Number 30 [R] . Squiers, L., Peele, E., Whitehead, N., 2010

机译：基于初级护理的，基于计算机的临床决策支持工具，用于评估患者对有害BRCa突变的风险。有效的医疗保健计划研究报告第30号

Guidelines for reporting clinical features in cases with MECP2 mutations.

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