wholeexomesequencing相关论文
目的:探讨l例特殊面容、智力低下、语言发育迟缓和自闭症谱系障碍患者的分子遗传学病因。方法:抽提患者及其家系成员外周血基因组D......
Mapping of de novo mutations in primary biliary cholangitis to a disease-specific co-expression netw
Primary biliary cholangitis(PBC)is an autoimmune disease involving dysregulation of a broad array of homeostatic and met......
目的:通过对两个Coffin-Siris综合征家系先证者的临床表征及基因变异分析，揭示其可能的遗传发病机制，为家系的遗传咨询提供依据。方......
目的:对一例胼胝体发育不全并伴有其他脑部畸形的胎儿进行遗传学分析，以明确其致病原因。方法:应用全外显子组测序(whole exome seq......
目的:分析1例糖原累积病Ⅵ型(glycogen storage disease type Ⅵ，GSD-Ⅵ)患儿的临床特征和基因变异情况，明确其致病原因。方法:收集1......
目的:对一例婴儿型多囊肾病胎儿的 n HNF1B基因变异进行分析，明确其致病原因。n 方法:收集引产胎儿的新鲜组织及其父母外......
目的:探讨一个Vici综合征家系的遗传学病因，为其遗传咨询和产前诊断提供依据。方法:提取染色体核型和单核苷酸多态性微阵列芯片分析......
目的:分析1例视网膜色素变性(retinitis pigmentosa, RP)患者的基因变异，明确其可能的遗传学病因。方法:应用全外显子测序技术对先......
目的:探讨来自同一家系的两例表现为Joubert综合征的患儿(其中1例为胎儿)的遗传学病因。方法:采集先证者及父母的外周静脉血样以及......
Objective Assessing clonal origins of multiple lung cancers is a clinical dilemma,which may represent multiple primary l......
Whole Exome Sequencing to Identify a Novel Mutation in SFTPA2 Associated with Familial Idiopathic pu
目的 Idiopathic pulmonary fibrosis (IPF) is a common category of idiopathic interstitial lung disease, it is charactered......
Molecular Diagnosis of Retinitis Pigmentosa by Whole Exome Sequencing in a Chinese Cohort of 98 Smal
Purpose Retinitis pigmentosa(RP)is probably the most common inherited retinal disease.Because RP is highly heterogeneous......
Exome sequencing identifies a novel nonsense mutation of HOXD13 in a Chinese family with synpolydact
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The distal arthrogryposis(DA)syndromes are a group of disorders featured by congenital contractures of limbs.According t......
Identification of genomic variation landscape of cervical adenocarcinoma and differential transcript
Objective To identify somatic mutations,copy number variations and structural variations of cervical adenocarcinoma and ......
Identify mutations in FZD4 and NDP genes in patients with Familial exudative vitreoretinopathy in In
Purpose Mutations in TSPAN12 and NDP have been identified as causative genes of familial exudative vitreoretinopathy(FEV......
Prenatal diagnosis of complete maternal uniparental isodisomy of chromosome 4 in a fetus without con
Background: Prenatal diagnosis of complete uniparental isodisomy of chromosome 4 (iUPD4) subjects has rarely been report......
Background: Most renal cell carcinoma (RCC) occur in one kidney;however, in a small set of patients (0.7-4.7%), RCCs occ......
Assessment of circulating tumor DNA in cerebrospinal fluid by whole exome sequencing to detect genom
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Whole exome sequencing identifies mutations of multiple genes in a Chinese cohort of 95 sporadic pro
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Failure to Identify Somatic Mutations in Monozygotic Twins Discordant for Schizophrenia by Whole Exo
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目的探讨1例5q14.3微缺失综合征患儿的临床表型和遗传学病因。方法应用全外显子组测序技术(whole exome sequencing，WES)及低深度全......
目的:探讨1例46，XY性发育异常(disorders of sex development，DSD)患儿的遗传学机制，并分析其基因型与表型的相关性。方法:对患儿进行......
目的对1个轴前多指畸形家系进行基因变异分析，明确其可能的致病原因。方法提取先证者及其父母外周血DNA，采用trio全外显子组测序法检......
目的对3个连续发生非免疫性胎儿水肿(non-immune hydrops fetalis，NIHF)的家系进行分析，探讨在拷贝数变异测序(copy number variatio......
目的明确1例以热性惊厥为主要症状的女性患儿的遗传学病因。方法应用全外显子测序技术和全基因组拷贝数变异测序技术(copy number ......
Whole exome sequencing implicates PTCH1 and COL17A1 genes in ossification of the posterior longitudi
Ossification of the posterior longitudinal ligament (OPLL;OMIM #602475) is characterized by pathological ectopic oss......
Using Imputation Method with reference panel reconstruction to Improve Whole Exome Sequencing analys
Background: With the advances of Next Generation Sequencing technology, the application of bioinformatics to solve g......
目的:对2例由严重弱精子症导致原发性男性不育患者进行临床和遗传学分析，明确其可能的致病原因。方法:提取患者及父母外周血基因组D......
目的探讨全外显子组测序技术在先天性结构异常胎儿产前诊断中的应用价值。方法对排除了染色体病及基因组不平衡的1147个先天性结构......
目的分析1例婴儿型多囊肾病胎儿的临床表型及遗传学病因。方法产前超声提示羊水过少，胎儿肾脏结构异常。知情自主选择引产后，采集引......
