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检索条件"主题词=single nucleotide polymorphism array"
121 条 记 录,以下是11-20 订阅
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The genetic landscape of paediatric de novo acute myeloid leukaemia as defined by single nucleotide polymorphism array and exon sequencing of 100 candidate genes
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BRITISH JOURNAL OF HAEMATOLOGY 2016年 第2期174卷 292-301页
作者: Olsson, Linda Zettermark, Sofia Biloglav, Andrea Castor, Anders Behrendtz, Mikael Forestier, Erik Paulsson, Kajsa Johansson, Bertil Lund Univ Div Clin Genet Dept Lab Med Lund Sweden Dept Clin Genet Div Lab Med Off Med Serv Lund Sweden Skane Univ Hosp Dept Paediat Lund Sweden Linkoping Univ Hosp Dept Paediat Linkoping Sweden Umea Univ Dept Med Biosci Umea Sweden
Cytogenetic analyses of a consecutive series of 67 paediatric (median age 8 years;range 0-17) de novo acute myeloid leukaemia (AML) patients revealed aberrations in 55 (82%) cases. The most common subgroups were KMT2A... 详细信息
来源: 评论
Concurrent exome-targeted next-generation sequencing and single nucleotide polymorphism array to identify the causative genetic aberrations of isolated Mayer-Rokitansky-Kuster-Hauser syndrome
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HUMAN REPRODUCTION 2015年 第7期30卷 1732-1742页
作者: Chen, Mei-Jou Wei, Shin-Yi Yang, Wei-Shiung Wu, Tsai-Tzu Li, Huei-Ying Ho, Hong-Nerng Yang, Yu-Shih Chen, Pei-Lung Natl Taiwan Univ Hosp Dept Obstet & Gynecol Taipei 100 Taiwan Natl Taiwan Univ Hosp Dept Internal Med Taipei 100 Taiwan Natl Taiwan Univ Grad Inst Clin Med Coll Med Taipei 100 Taiwan Natl Taiwan Univ Res Ctr Dev Biol & Regenerat Med Taipei 100 Taiwan Natl Taiwan Univ Grad Inst Mol Med Coll Med Taipei 100 Taiwan Natl Taiwan Univ Hosp Dept Med Genet Taipei 100 Taiwan Natl Taiwan Univ Coll Med Grad Inst Med Genom & Prote Taipei 100 Taiwan
STUDY QUESTION: Can the use of whole-exome sequencing (WES) together with single nucleotide polymorphism (SNP) array help to identify novel causative genes of isolated Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome? S... 详细信息
来源: 评论
Improved assay performance of single nucleotide polymorphism array over conventional karyotyping in analyzing products of conception
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JOURNAL OF THE CHINESE MEDICAL ASSOCIATION 2015年 第7期78卷 408-413页
作者: Lin, Shao-Bin Xie, Ying-Jun Chen, Zheng Zhou, Yi Wu, Jian-Zhu Zhang, Zhi-Qiang Shi, Shan-Shan Chen, Bao-Jiang Fang, Qun Sun Yat Sen Univ Fetal Med Ctr Dept Obstet & Gynecol Affiliated Hosp 1 Guangzhou 510080 Guangdong Peoples R China Sun Yat Sen Univ Dept Med Genet Zhongshan Med Coll Guangzhou 510080 Guangdong Peoples R China Jinan Univ Dept Fetal Med Ctr Affiliated Hosp 1 Guangzhou Guangdong Peoples R China
Background: Conventional karyotyping has been a routine method to identify chromosome abnormalities in products of conception. However, this process is being transformed by single nucleotide polymorphism (SNP) array, ... 详细信息
来源: 评论
Identification of copy number variations in three Chinese horse breeds using 70K single nucleotide polymorphism BeadChip array
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ANIMAL GENETICS 2016年 第5期47卷 560-569页
作者: Kader, Adiljan Liu, Xuexue Dong, Kunzhe Song, Shen Pan, Jianfei Yang, Min Chen, Xiaofei He, Xiaohong Jiang, Lin Ma, Yuehui Chinese Acad Agr Sci Key Lab Farm Anim Genet Resources & Utilizat Minist Agr China Inst Anim Sci 2 Yuanmingyuan West Rd Beijing 100193 Peoples R China Xinjiang Acad Anim Sci Urumqi 83000 Xinjiang Peoples R China ARS USDA Avian Dis & Oncol Lab E Lansing MI 48823 USA China Agr Univ Dept Anim Genet & Breeding Coll Anim Sci & Technol Beijing 100094 Peoples R China
Copy number variation (CNV), an essential form of genetic variation, has been increasingly recognized as one promising genetic marker in the analysis of animal genomes. Here, we used the Equine 70K single nucleotide p... 详细信息
来源: 评论
Whole-Genome single nucleotide polymorphism array Analysis Is Complementary to Classical Cytogenetic Analysis in the Evaluation of Lymphoid Proliferations
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AMERICAN JOURNAL OF CLINICAL PATHOLOGY 2014年 第2期141卷 247-255页
作者: Gibson, Sarah E. Luo, Jianhua Sathanoori, Malini Liao, Jun Surti, Urvashi Swerdlow, Steven H. Univ Pittsburgh Sch Med Dept Pathol Pittsburgh PA USA UPMC Magee Womens Hosp Pittsburgh Cytogenet Lab Pittsburgh PA 15213 USA
Objectives: To explore how much additional information single nucleotide polymorphism (SNP) arrays provide and whether they could partially replace classical cytogenetics. Methods: Twenty-six lymphoid proliferations w... 详细信息
来源: 评论
Prenatal diagnosis, ultrasound findings and pregnancy outcome of 7q11.23 deletion and duplication syndromes: what are the fetal features?
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BMC PREGNANCY AND CHILDBIRTH 2024年 第1期24卷 727页
作者: Luo, Xiaojin Niu, Hongyan Zhou, Fei Chen, Xiaohang Pei, Yuanyuan Liu, Weiqiang Wei, Fengxiang Shantou Univ Longgang Dist Matern & Child Healthcare Hosp Shenz Genet Lab Longgang Matern & Child Inst Med Coll Shenzhen Guangdong Peoples R China
ObjectiveAnalyze the ultrasound findings, single nucleotide polymorphism array (SNP-array) results, and pregnancy outcomes of fetuses with 7q11.23 deletions and duplications in the second and third trimesters. Investi... 详细信息
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Endometriosis does not impact aneuploidy rates of products of conception in IVF population
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SCIENTIFIC REPORTS 2025年 第1期15卷 1-9页
作者: Kong, Huijuan Fan, Wenqian Ye, Tian Du, Linqing Zhengzhou Univ Ctr Reprod Med Affiliated Hosp 1 Zhengzhou 450052 Peoples R China Zhengzhou Univ Henan Key Lab Reprod & Genet Affiliated Hosp 1 Zhengzhou 450052 Peoples R China Zhengzhou Univ Clin Res Ctr Henan Prov Obstetr & Gynaecol Dis Reprod Med Affiliated Hosp 1 Zhengzhou 450052 Peoples R China Zhengzhou Univ Affiliated Hosp 1 Henan Engn Lab Preimplantat Genet Diag & Screening Zhengzhou 450052 Peoples R China Zhengzhou Univ Dept Oncol Affiliated Hosp 1 1 Jianshe East Rd Zhengzhou 450000 Peoples R China
It has been debated whether endometriosis (EMS) adversely affects oocyte quality, potentially leading to a higher incidence of genetically unbalanced embryos or other egg factors that affect the developmental potentia... 详细信息
来源: 评论
Extragonadal germ cell tumors: A clinicopathologic study with emphasis on molecular features, clinical outcomes and associated secondary malignancies
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HUMAN PATHOLOGY 2024年 148卷 41-50页
作者: Abdulfatah, Eman Brown, Noah A. Davenport, Matthew S. Reichert, Zachery R. Camelo-Piragua, Sandra Heider, Amer Huang, Tao Vaishampayan, Ulka N. Skala, Stephanie L. Montgomery, Jeffrey S. Chinnaiyan, Arul M. Kaffenberger, Samuel D. Bawa, Pushpinder Shao, Lina Mehra, Rohit Univ Michigan Dept Pathol 2800 Plymouth RdBldg 35 Ann Arbor MI 48109 USA Univ Michigan Dept Radiol Med Sch Ann Arbor MI USA Michigan Ctr Translat Pathol Ann Arbor MI USA Univ Michigan Dept Urol Med Sch Ann Arbor MI USA Michigan Med Rogel Canc Ctr Ann Arbor MI USA Howard Hughes Med Inst Ann Arbor MI USA Dept Internal Med Div Hematol Oncol Ann Arbor MI USA
Extragonadal germ cell tumors (EGCTs) are rare, representing <5% of all germ cell tumors (GCTs). Whilst EGCTs share morphological and immunohistochemical features with their gonadal counterparts, they tend to be mo... 详细信息
来源: 评论
Ultrasound Phenotype, Genetic Analysis, and Pregnancy Outcomes of Fetuses With 1p36 Deletion Syndrome
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MOLECULAR GENETICS & GENOMIC MEDICINE 2025年 第5期13卷
作者: Cai, Meiying Lin, Na Chen, Xuemei Huang, Hailong Guo, Nan Lin, Jiansong Xu, Liangpu Fujian Med Univ Fujian Matern & Child Hlth Hosp Coll Clin Med Obstet & Gynecol & Pediat Med Genet Diag & Therapy CtrFujian Key Lab Prenat Fuzhou Peoples R China Fujian Med Univ Fujian Maternal & Child Hlth Hosp Coll Clin Med Obstet & Gynecol & Pediat Dept Pathol Fuzhou Peoples R China
BackgroundThe intrauterine ultrasound phenotype, genotype, pregnancy outcome, and neonatal prognosis of fetuses with 1p36 deletion syndrome were retrospectively analyzed, as previous reports are *** women (25,000) who... 详细信息
来源: 评论
Prenatal diagnosis of Simpson-Golabi-Behmel syndrome type 1 with an 814 kb Xq26.2 deletion with the initial presentation of a thick nuchal fold
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TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY 2023年 第1期62卷 163-166页
作者: Peng, Hsiu-Huei Yu, Chung Jen Chen, Yi Chi Hsu, Chin-Chieh Chang, Shuenn-Dyh Chueh, Ho -Yen Chang, Yao-Lung Cheng, Po -Jen Lee, Yen-Chang Chang Gung Mem Hosp Lin Ko Med Ctr Tao Yuan Taiwan Hungchi Women & Childrens Hosp Tao Yuan Taiwan Chang Gung Mem Hosp Dept Obstet & Gynecol 5 Fu Hsing St Tao Yuan Taiwan
Objective: Simpson-Golabi-Behmel syndrome type 1 (SGBS1) is a rare X-linked recessive disorder characterized by overgrowth and multiple anomalies. Most clinical diagnoses of SGBS1 are made post-natally. We present the... 详细信息
来源: 评论