Caroline Mackie Ogilvie Cytogenetics Department Guy's & St Thomas' NHS Foundation Trust Biography Publications Institution JoVE Articles Caroline Mackie Ogilvie has not added a biography. If you are Caroline Mackie Ogilvie and would like to personalize this page please email our Author Liaison for assistance. Publications CHD2 Haploinsufficiency is Associated with Developmental Delay, Intellectual Disability, Epilepsy and Neurobehavioural Problems Journal of Neurodevelopmental Disorders. 2014 | Pubmed ID: 24834135 A New Direction for Prenatal Chromosome Microarray Testing: Software-targeting for Detection of Clinically Significant Chromosome Imbalance Without Equivocal Findings PeerJ. 2014 | Pubmed ID: 24795849 Disruption of the ASTN2/TRIM32 Locus at 9q33.1 is a Risk Factor in Males for Autism Spectrum Disorders, ADHD and Other Neurodevelopmental Phenotypes Human Molecular Genetics. May, 2014 | Pubmed ID: 24381304 Meiotic Outcomes of Three-way Translocations Ascertained in Cleavage-stage Embryos: Refinement of Reproductive Risks and Implications for PGD European Journal of Human Genetics : EJHG. Jun, 2014 | Pubmed ID: 24129433 NRXN1 Deletions Identified by Array Comparative Genome Hybridisation in a Clinical Case Series - Further Understanding of the Relevance of NRXN1 to Neurodevelopmental Disorders Journal of Molecular Psychiatry. 2013 | Pubmed ID: 25408897 Multicolor Banding Remains an Important Adjunct to Array CGH and Conventional Karyotyping Molecular Cytogenetics. 2013 | Pubmed ID: 24314262 Male-biased Autosomal Effect of 16p13.11 Copy Number Variation in Neurodevelopmental Disorders PloS One. 2013 | Pubmed ID: 23637818 Multiple Pregnancy, Fetal Reduction and Selective Termination Reproductive Biomedicine Online. Jun, 2013 | Pubmed ID: 23602677 Array CGH As a First Line Diagnostic Test in Place of Karyotyping for Postnatal Referrals - Results from Four Years' Clinical Application for over 8,700 Patients Molecular Cytogenetics. 2013 | Pubmed ID: 23560982 Successful PGD Cycles for Mosaic Robertsonian Translocation Carriers Provide Insights into the Mechanism of Formation of the Derivative Chromosomes American Journal of Medical Genetics. Part A. Mar, 2013 | Pubmed ID: 23401053 Benefits and Drawbacks of Preimplantation Genetic Diagnosis (PGD) for Reciprocal Translocations: Lessons from a Prospective Cohort Study European Journal of Human Genetics : EJHG. Oct, 2013 | Pubmed ID: 23386032 Quantitative Fluorescence PCR Analysis of >40,000 Prenatal Samples for the Rapid Diagnosis of Trisomies 13, 18 and 21 and Monosomy X Prenatal Diagnosis. Dec, 2012 | Pubmed ID: 23097180 QF-PCR: Application, Overview and Review of the Literature Prenatal Diagnosis. Apr, 2012 | Pubmed ID: 22467160 Array Comparative Genomic Hybridization: Results from an Adult Population with Drug-resistant Epilepsy and Co-morbidities European Journal of Medical Genetics. May, 2012 | Pubmed ID: 22342432 在体外受精的胚胎选择: 是极体阵列比较基因组杂交不够准确吗? Human Reproduction (Oxford, England). Feb, 2012 | Pubmed ID: 22328558 癌症易感性基因检测阵列比较基因组杂交中的意外的结果: 的问题是什么? Journal of Medical Genetics. Aug, 2011 | Pubmed ID: 21429933 队列使用寡核苷酸阵列全息平台的 3,042 例临床研究中的基因组不平衡的镶嵌的检测。 European Journal of Medical Genetics. Mar-Apr, 2011 | Pubmed ID: 21056703 洗钱法测定继承和数组计算全息图结果确认。 Molecular Cytogenetics. 2010 | Pubmed ID: 20942916 安全模式: 治疗级人类胚胎干细胞的遗传评价。 Journal of the Royal Society, Interface / the Royal Society. Dec, 2010 | Pubmed ID: 20826474 鱼的胚胎的遗传诊断。 Methods in Molecular Biology (Clifton, N.J.). 2010 | Pubmed ID: 20809319 QF PCR 作为独立的产前样品测试: 伦敦地区在第 2 年经验。 Prenatal Diagnosis. Jun, 2010 | Pubmed ID: 20509149 验证和执行的第一行作为阵列比较基因组杂交试验代替产后核型分析技术对基因组的不平衡。 Molecular Cytogenetics. 2010 | Pubmed ID: 20398301 Y 的承运人胚胎植入前遗传学诊断 ; 由于常染色体易位导致健康的男性后代。 Fertility and Sterility. Sep, 2010 | Pubmed ID: 20338558 2 Mb 区域,包括轻度肌病、 面部张力减退、 口腔电机 Dyspraxia 和白质异常患者肌基因的杂合性删除。 European Journal of Human Genetics : EJHG. Jul, 2010 | Pubmed ID: 20234391 胚胎植入前遗传单倍型推导问题: 127 诊断周期表现出健壮的、 高效的替代上直接突变检测单个单元格。 Reproductive Biomedicine Online. Apr, 2010 | Pubmed ID: 20144563 从上游守恒元素与左心发育不良的复杂反演/易位患者 PROX1 基因的分离。 European Journal of Human Genetics : EJHG. Nov, 2009 | Pubmed ID: 19471316 新型缺失的关联与心脏间隔缺损和小头畸形的近端 22q: 病例的报告。 Molecular Cytogenetics. 2009 | Pubmed ID: 19239688 半自动中期定位和屏幕上核型分析技术体系的有效性进行评价。 Journal of the Association of Genetic Technologists. 2008 | Pubmed ID: 20081315 Alpha7 烟碱型受体基因拷贝数备选案文涉及部分包含多态反演。 European Journal of Human Genetics : EJHG. Nov, 2008 | Pubmed ID: 18545269 在人类身上 ; 小编外标记染色体 (sSMC)B 染色体隐藏其中。 Molecular Cytogenetics. 2008 | Pubmed ID: 18533011 亚显微染色体不平衡患者发育迟缓和/或异形提到专门为脆性 X 测试和染色体核型分析。 Molecular Cytogenetics. 2008 | Pubmed ID: 18471307 荧光原位杂交技术对单个单元格。(性测定和染色体重排)。 Methods in Molecular Medicine. 2007 | Pubmed ID: 17876073 除转介与癫痫和发育迟缓的安琪儿综合征的患病率。 American Journal of Medical Genetics. Part A. Sep, 2007 | Pubmed ID: 17676602 使用洗钱法亚端粒不平衡检测: 验证、 分析议定书 》,并在诊断中心中的应用的发展。 BMC Medical Genetics. 2007 | Pubmed ID: 17338807 分析胎儿染色体马赛克胎盘,评估细胞群体中的游离绒毛: QF PCR 非整倍体检测的影响。 Prenatal Diagnosis. Mar, 2007 | Pubmed ID: 17323406 完成了语体文绒毛 QF PCR 分析及核型分析技术在产前诊断中三体综合征 21 三 CVS 在培养细胞之间的差异。 Prenatal Diagnosis. Apr, 2007 | Pubmed ID: 17286305 由多个位移放大后的微卫星标记分析卵裂期胚胎的遗传状态的测定。 Prenatal Diagnosis. Mar, 2007 | Pubmed ID: 17262877 胚胎植入前遗传学诊断的单基因遗传病: 概述和新出现的问题。 Expert Review of Molecular Diagnostics. Jan, 2007 | Pubmed ID: 17187482 新型删除变种的 9q13 Q21.12 和 9q12/qh 古典 Euchromatic 变种涉及删除、 重复和三大片大片的节段重复的 Pericentromeric 常染色质。 European Journal of Human Genetics : EJHG. Jan, 2007 | Pubmed ID: 16985501 原则和使用胚胎植入前遗传单倍型推导问题 — — 胚胎诊断的范式转变的第一个案件的证明。 Reproductive Biomedicine Online. Jul, 2006 | Pubmed ID: 16820122 多色条纹检测复杂的三个染色体,在多个异常 ICSI 派生胎儿七个断点不平衡重排。 American Journal of Medical Genetics. Part A. May, 2006 | Pubmed ID: 16596677 产前诊断。 Lancet. Oct, 2005 | Pubmed ID: 16198756 产前诊断的未来: 快速测试或完整的染色体核型吗?唐氏综合征测试提交审计的染色体异常和妇女的妊娠结局。 BJOG : an International Journal of Obstetrics and Gynaecology. Oct, 2005 | Pubmed ID: 16167939 使用荧光定量 PCR (QF PCR) 非整倍体的产前快速诊断。 The Journal of Histochemistry and Cytochemistry : Official Journal of the Histochemistry Society. Mar, 2005 | Pubmed ID: 15750003 胚胎植入前遗传学诊断 — — 概述。 The Journal of Histochemistry and Cytochemistry : Official Journal of the Histochemistry Society. Mar, 2005 | Pubmed ID: 15749997 为初级合子 QF PCR 和染色体核型分析产前样品中镶嵌的检测。 Prenatal Diagnosis. Jan, 2005 | Pubmed ID: 15662691 产前样品由 QF PCR 基因分型评估产妇细胞污染。 Prenatal Diagnosis. Jan, 2005 | Pubmed ID: 15662689 使用完全合成探针集多重连接依赖的探针扩增。 BioTechniques. Sep, 2004 | Pubmed ID: 15470894 关于染色体 13 造成远端 13q 和非对称型的马赛克 Tetrasomy 新 Neocentromere 轨迹。 American Journal of Medical Genetics. Part A. Oct, 2004 | Pubmed ID: 15378552 胚胎植入前遗传学诊断 (PGD) 相互易位。 Prenatal Diagnosis. Jul, 2004 | Pubmed ID: 15300748 快速产前诊断胎儿的染色体非整倍体的战略。 European Journal of Human Genetics : EJHG. Nov, 2004 | Pubmed ID: 15292918 调查的比较基因组杂交的人类胚胎的染色体不平衡。 Reproductive Biomedicine Online. Jun, 2004 | Pubmed ID: 15169589 三体综合征 2 胎儿与严重的神经管畸形和其它异常情况。 Clinical Dysmorphology. Jan, 2004 | Pubmed ID: 15127760 删除的远端长臂的染色体 10 ;特性表型?15 德诺和家族性病例的报告。 American Journal of Medical Genetics. Part A. Dec, 2003 | Pubmed ID: 14598339 类二 Neocentromeres: 假定共 Neocentromere 站点在乐队 4q21.2。 European Journal of Human Genetics : EJHG. Oct, 2003 | Pubmed ID: 14512964 非恶性的人体组织中确定体内体细胞微卫星基因突变。 Human Genetics. Dec, 2003 | Pubmed ID: 14505038 胚胎植入前遗传学诊断。 Lancet. Jul, 2003 | Pubmed ID: 12885500 使用 Multisubtelomere 鱼的终端染色体异常的表征。 American Journal of Medical Genetics. Part A. Aug, 2003 | Pubmed ID: 12884426 染色体异常的产前诊断: 过去、 现在和未来。 Pathologie-biologie. Apr, 2003 | Pubmed ID: 12781797 发展和目标应用程序快速 QF-聚合酶链反应试验性染色体不平衡。 Prenatal Diagnosis. Mar, 2003 | Pubmed ID: 12627420 实验室诊断。 Lancet. Jan, 2003 | Pubmed ID: 12531594 战略和盖伊和圣托马斯中心在胚胎植入前遗传学诊断的第一次 100 周期的结果。 Fertility and Sterility. Jan, 2003 | Pubmed ID: 12524068 在 3q26.33 Q28 和描述关联此区域可见染色体缺失综合征的眼球基因估计 6.7 MB 候选人间隔的划定。 European Journal of Human Genetics : EJHG. Dec, 2002 | Pubmed ID: 12461687 减数分裂中相互易位携带者在 3 天的人类胚胎中确定的结果。 European Journal of Human Genetics : EJHG. Dec, 2002 | Pubmed ID: 12461686 胚胎植入前遗传学诊断。 Nature Reviews. Genetics. Dec, 2002 | Pubmed ID: 12459724 阵列比较基因组杂交(CGH阵列),用于检测基因拷贝数变异的 Joo Wook Ahn1, Michael Coldwell2, Susan Bint2, Caroline Mackie Ogilvie1 1Cytogenetics Department, Guy's & St Thomas' NHS Foundation Trust, 2Cytogenetics Department, Viapath Analytics JoVE 51718 Biology
阵列比较基因组杂交(CGH阵列),用于检测基因拷贝数变异的 Joo Wook Ahn1, Michael Coldwell2, Susan Bint2, Caroline Mackie Ogilvie1 1Cytogenetics Department, Guy's & St Thomas' NHS Foundation Trust, 2Cytogenetics Department, Viapath Analytics JoVE 51718 Biology