Sökresultat - "Chromosomal microarray"

Cancer Sample Analysis Utilizing Single-Nucleotide Polymorphism Array and Array Comparative Genomic Hybridization

Kang, Benjamin^{Aff4, Aff5}, Xiao, Hong^Aff5, Ackley, Todd^Aff5, Shao, Lina^{Aff4, Aff5}

Ye, Jing Christine^Aff2, Heng, Henry H.^Aff3, Walker, John M.^Aff1

Diagnostic yield of chromosomal microarray to examine the genetic factors associated with fetal aberrant right subclavian artery

Wu, Wenli, Zhang, Fanyong^{Aff1, Aff2}, Li, Yuting, Li, Peng, Liu, Miao, Wang, Fengge^{Aff1, Aff2, IDs00404025079463_cor1}, Man, Dongmei^{Aff1, Aff2, IDs00404025079463_cor2}

Complex chromosomal rearrangements in female carriers experiencing recurrent pregnancy loss or poor obstetric history and literature review

Sheth, Frenny^{Aff1, IDs10815024033161_cor1}, Shah, Jhanvi, Liehr, Thomas, Desai, Manisha, Patel, Hetankshi, Sheth, Jayesh, Sheth, Harsh^{Aff1, IDs10815024033161_cor2}

The Genetics of Cerebral Palsy

Meuwissen, Marije^Aff2, Janssens, Katrien^Aff2

Panteliadis, Christos P., editor^Aff1

A Commemorative Issue in Honor of Professor Merlin G. Butler's Retirement

Godler, David E., Veatch, Olivia J.

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Chromosomal Microarray Analysis in Spina Bifida: Genetic Heterogeneity and Its Clinical Implications

Himani Pandey, Jyoti Sharma, Sourabh Kumar, Nakul Mohan, Vishesh Jain, Anjan Kumar Dhua, Devendra Kumar Yadav, Ashish Kumar Dubey, Prativa Choudhury, Prabudh Goel

electronic resource

Visa; Visa; Visa

Effective detection of 148 cases chromosomal mosaicism by karyotyping, chromosomal microarray analysis and QF-PCR in 32,967 prenatal diagnoses

Yi Deng, Lan Zeng, Zhiling Wu, Jin Wang, Mengling Ye, Chun Chen, Ping Wei, Danni Wang, Guangming Deng, Shuyao Zhu

electronic resource

Visa

Prenatal Diagnosis Using Chromosomal SNP Microarrays

Ganapathi, Mythily^Aff3, Nahum, Odelia^Aff3, Levy, Brynn^Aff3

Levy, Brynn^Aff2, Walker, John M.^Aff1

Chromosomal Microarray in Children Born Small for Gestational Age – Single Center Experience

Perović D, Barzegar P, Damnjanović T, Jekić B, Grk M, Dušanović Pjević M, Cvetković D, Đuranović Uklein A, Stojanovski N, Rašić M, Novaković I, Elhayani B, Maksimović N

electronic resource

Visa

The assessing of clinical relevance of chromosomal microarray analysis in the prenatal diagnosis of fetal growth restriction

Peng Li, Wenli Wu, Xiaoyun Zhang, Yuting Li, Miao Liu, Yanping Wang, Dongmei Man, Fengge Wang

electronic resource

Visa

Exploration of copy number variations and candidate genes in fetal congenital heart disease using chromosomal microarray analysis

Yao, Di^{j_jpm-2024-0599_aff_002}, Xia, Ruyu^{j_jpm-2024-0599_aff_002}, Jiang, Xu^{j_jpm-2024-0599_aff_002}, Guo, Caiqin^{j_jpm-2024-0599_aff_001}, Shi, Nan^{j_jpm-2024-0599_aff_001}, Tao, Hehua^{j_jpm-2024-0599_aff_001}, Yang, Lan^{j_jpm-2024-0599_aff_001}

Exome sequencing and prenatal skeletal abnormalities: comprehensive review and meta-analysis and way forward

Mengting Jiang, Bin Zhang, Jing Wang, Cui Wei, Xiuzhen Mao, Bin Yu

electronic resource

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Unveiling a rare genetic aberration: A case study of Prader-Willi syndrome (PWS) with atypical 15q11.2-q13.3 deletion

Senthilraja Ramalingam, Srividya Ganapathy, Jayaswathi Kanchepalli, Vani Jayaraj, Mani Mariyappa

electronic resource

Visa; Visa; Visa

Case Report: Optical genome mapping enables identification of complex balanced chromosomal rearrangements

Xiaohang Hu, Jing Guo, Haiyang Sang, Jinyan Yan, Hong Chang, Ting Liu, Haixin Dong, Min Kong, Yanjun Tian, Liqing Jiang

electronic resource

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Comparative analysis of the application with the combination of CMA and karyotype in routine and late amniocentesis

Zheng, Yanmei, Zhong, Zixing, Zhao, Yiqi, Zhang, Jing, Yang, Liwei, Zhao, Jue^{Aff1, IDs00404024076022_cor6}

Selection of prenatal screening with nuchal translucency > 95th centile and below 99th centile: a 4-year observational study with real-world data

Zhang, Bin, Zhang, Long-Xiu^{Aff2, Aff5}, Yi, Jiao, Wang, Chao-Hong^{Aff4, IDs00404024075007_cor4}, Zhao, Ye^{Aff2, IDs00404024075007_cor5}

Chromosomal microarray testing yield in 829 cases of microcephaly: a clinical characteristics-based analysis for prenatal and postnatal cases

Sukenik-Halevy, Rivka^{Aff1, Aff2, IDs00404024073883_cor1}, Mevorach, Nir, Basel-Salmon, Lina^{Aff2, Aff3, Aff4, Aff5}, Matar, Reut Tomashov, Kahana, Sarit, Klein, Kochav, Agmon-Fishman, Ifaat, Levy, Michal^{Aff2, Aff3}, Maya, Idit^{Aff2, Aff3}

Prenatal diagnosis and molecular cytogenetic analysis of pure chromosome 10p15.3 microdeletion using chromosomal microarray analysis

Na Zhang, Nan Huang, Yu’e Chen, Xinying Chen, Jianlong Zhuang

electronic resource

Visa

First African case report of hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome due to inverted duplication and deletion of chromosome 10p

Tumelo M. Satekge, Glenrose Rikhotso, Bianca Rossouw, Bronwyn Dillon, Fiona Baine-Savanhu

electronic resource

Visa

Chromosomal Abnormalities Detected by Chromosomal Microarray Analysis and Karyotype in Fetuses with Ultrasound Abnormalities

Lan L, Luo D, Lian J, She L, Zhang B, Zhong H, Wang H, Wu H

electronic resource

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