Case Report: Complicated Molecular Diagnosis of MECP2 Gene Structural Rearrangement in a Proband with Rett Syndrome

Beskorovainaya Tatiana; Konovalov Fedor; Demina Nina; Shchagina Olga; Pashchenko Maria; Kanivets Ilya; Pyankov Denis; Ryzhkova Oxana; Polyakov Alexander

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Case Report: Complicated Molecular Diagnosis of MECP2 Gene Structural Rearrangement in a Proband with Rett Syndrome

机译：病例报告：复杂的分子诊断MECP2基因结构重新排列在试验室中的试验室

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来源
《Journal of autism and developmental disorders》 |2021年第6期|共5页
作者
Beskorovainaya Tatiana; Konovalov Fedor; Demina Nina; Shchagina Olga; Pashchenko Maria; Kanivets Ilya; Pyankov Denis; Ryzhkova Oxana; Polyakov Alexander;
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Fed State Budgetary Inst Res Ctr Med Genet Moskvorechie Str 1 Moscow 115522 Russia;

Independent Clin Bioinformat Lab Moscow Russia;

Fed State Budgetary Inst Res Ctr Med Genet Moskvorechie Str 1 Moscow 115522 Russia;

Fed State Budgetary Inst Res Ctr Med Genet Moskvorechie Str 1 Moscow 115522 Russia;

Fed State Budgetary Inst Res Ctr Med Genet Moskvorechie Str 1 Moscow 115522 Russia;

Genomed Ltd Moscow Russia;

Genomed Ltd Moscow Russia;

Fed State Budgetary Inst Res Ctr Med Genet Moskvorechie Str 1 Moscow 115522 Russia;

Fed State Budgetary Inst Res Ctr Med Genet Moskvorechie Str 1 Moscow 115522 Russia;

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原文格式 PDF
正文语种 eng
中图分类心理学;
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1. Positive effects of low dose IMPX977 on Rett syndrome related MeCP2 targeted-genes [J] . Ying Zhao1, Liang Le23, Yue-qiang Song4, 中草药：英文版 . 2019,第001期
2. MeCP2: Making sense of missense in Rett syndrome [J] . Abhishek Banerjee, Esmeralda Romero-Lorenzo, Mriganka Sur 细胞研究（英文版） . 2013,第011期
3. Dissolved Silica Adsorbed onto MnO2 in Catalyzing the Decomposition of H2O2:Molecular Structural Rearrangement Revealed by FTIR, SEM-EDX and XRD [J] . Jianhua GUO, Yunting DONG, Dongyun ZHANG 农业科学与技术（英文版） . 2017,第010期
4. Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband. [J] . Hardwick SA, Reuter K, Williamson SL, European journal of human genetics: EJHG . 2007,第12期

机译：概述了Rett综合征患者中MECP2基因的大量缺失，包括男性先证者的家族病例。
5. Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene. [J] . Bartholdi D, Klein A, Weissert M, Clinical Genetics: An International Journal of Genetics in Medicine . 2006,第4期

机译：四名雷特综合征患者在MECP2基因中携带新的外显子1突变或基因组重排的临床资料。
6. Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients. [J] . Archer HL, Whatley SD, Evans JC, Journal of Medical Genetics . 2006,第5期

机译：在经典和非典型Rett综合征患者中均发现MECP2基因的总体重排。
7. Clonal Rearrangements of Antigen Receptor Genes in the Diagnosis of Lymphoid Neoplasia [C] . William Vernau Annual Meeting of the American Society for Veterinary Clinical Pathology . 2004

机译：抗原受体基因在淋巴瘤诊断中的克隆重排
8. MeCP2 deficiency decreases bone formation and reduces bone volume in a rodent model of Rett syndrome [D] . O'Connor, Rose Deeter 2009

机译：MeCP2缺乏症会在Rett综合征的啮齿动物模型中减少骨骼形成并减少骨骼体积
9. Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients [O] . H L Archer, S D Whatley, J C Evans, 2006

机译：在经典和非典型Rett综合征患者中均发现MECP2基因的总体重排
10. Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband [O] . Hardwick, Simon Andrew, Reuter, Kirsten, WIlliamson, Sarah L, 2007

机译：Rett综合征患者MECP2基因大缺失的描述，包括一个男性先证者的家族病例
11. Structural Rearrangements in DNA Repair Genes in Breast Cancer. [R] . Lee, A. V. 2013

机译：乳腺癌DNa修复基因的结构重排。

Case Report: Complicated Molecular Diagnosis of MECP2 Gene Structural Rearrangement in a Proband with Rett Syndrome

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