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

Subjects: “…chromosomal microarray…”
Get full text

Chromosomal microarray on product of conception in early pregnancy loss: A case report by Snehal Mallakmir, Gauri Mulgund, Rashid Merchant

Subjects: “…chromosomal microarray…”
Get full text

A Clinical and Molecular Description of a Rare Case of Chromosomal Abnormality (Partial Trisomy 14q11.2-q21.1 and Partial Monosomy 21q11.2-q21.3) by Grigory S. Vasilyev, Tatiana I. Meshcheryakova, Elena N. Lukash, Svetlana S. Zhylina, Ilya V. Kanivets, Alexander N. Petrin

Subjects: Get full text

Unveiling a rare genetic aberration: A case study of Prader-Willi syndrome (PWS) with atypical 15q11.2-q13.3 deletion by Senthilraja Ramalingam, Srividya Ganapathy, Jayaswathi Kanchepalli, Vani Jayaraj, Mani Mariyappa

Subjects: Get full text

Current Genetic Testing Tools in Neonatal Medicine by Seema R. Lalani

Subjects: “…chromosomal microarray analysis…”
Get full text

A Novel EP300 Variant in an African American Girl With Global Developmental Delay and Leukemia by Subit Barua, Vundavalli V. Murty, Alejandro Iglesias, Jun Liao

Subjects: “…chromosomal microarray…”
Get full text

The use of chromosomal microarray analysis for diagnostics of chromosomal pathology in fetal central nervous system malformations by J. K. Kievskaya, I. V. Kanivets, E. V. Kudryavtseva, D. V. Pyankov, S. A. Korostelev

Subjects: “…chromosomal microarray analysis…”
Get full text

Exome sequencing and prenatal skeletal abnormalities: comprehensive review and meta-analysis and way forward by Mengting Jiang, Mengting Jiang, Bin Zhang, Jing Wang, Cui Wei, Xiuzhen Mao, Bin Yu

Subjects: Get full text

Outcomes associated with fetal nuchal translucency between 3.0 and 3.4 mm in the first trimester by Manon D. E. Vriendt, Caroline Rooryck, Hugo Madar, Frédéric Coatleven, Marie Vincienne, Perrine Prier, Sophie Naudion, Loïc Sentilhes, Hanane Bouchghoul

Subjects: Get full text

Etiological diagnosis of miscarriage by combining use of chromosomal microarray analysis and whole-exome sequencing by Jianlong Zhuang, Wanyu Fu, Ling Gu, Xiaofang Ye, Junyu Wang, Chunnuan Chen

Subjects: “…Chromosomal microarray analysis…”
Get full text

Rapid Whole-Genome Sequencing in Critically Ill Infants and Children with Suspected, Undiagnosed Genetic Diseases: Evolution to a First-Tier Clinical Laboratory Test in the Era of... by Rina Kansal

Subjects: Get full text

Effective detection of 148 cases chromosomal mosaicism by karyotyping, chromosomal microarray analysis and QF-PCR in 32,967 prenatal diagnoses by Yi Deng, Lan Zeng, Zhiling Wu, Jin Wang, Mengling Ye, Chun Chen, Ping Wei, Danni Wang, Guangming Deng, Shuyao Zhu

Subjects: Get full text

First African case report of hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome due to inverted duplication and deletion of chromosome 10p by Tumelo M. Satekge, Glenrose Rikhotso, Bianca Rossouw, Bronwyn Dillon, Fiona Baine-Savanhu

Subjects: Get full text

Case Report: Prenatal diagnosis of novel compound heterozygous variants in WDR35 gene causing short-rib thoracic dysplasia 7 with or without polydactyly by Jianlong Zhuang, Junyu Wang, Zhengping Huang, Yu’e Chen, Chunnuan Chen

Subjects: Get full text

Genetic testing for diagnosing neurodevelopmental disorders and epilepsy: a systematic review and meta-analysis by Yu-Ming Chang, Yen-Ta Huang, Pei-Chun Lai

Subjects: Get full text

The assessing of clinical relevance of chromosomal microarray analysis in the prenatal diagnosis of fetal growth restriction by Peng Li, Wenli Wu, Xiaoyun Zhang, Yuting Li, Miao Liu, Yanping Wang, Dongmei Man, Fengge Wang

Subjects: Get full text

Prenatal diagnosis and genetic assessment of fetuses with single umbilical artery using chromosomal microarray analysis: a seven-year single-center retrospective study by Jianlong Zhuang, Nan Huang, Yu’e Chen, Jialing Wu, Xiaofang Ye, Chunnuan Chen

Subjects: Get full text

A retrospective study for the diagnostic value of chromosomal microarray analysis in fetuses with high-risk prenatal indications by Hui Xiao, Junfang Xiao, Huan Zhang, Shuhui Huang, Qing Lu, Huizhen Yuan, Yongyi Zou, Bicheng Yang, Yanqiu Liu

Subjects: “…chromosomal microarray analysis…”
Get full text

Genetic etiology and pregnancy outcomes of fetal hyperechoic kidneys: a retrospective analysis by Meiying Cai, Na Lin, Ziheng Xiao, Ziheng Xiao, Hailong Huang, Lin Zheng, Liangpu Xu

Subjects: Get full text

Derivative Complex Small Supernumerary Marker Chromosomes (sSMC) Involving Chromosomes 2 and 15—A Novel Report by Yazeed Alayed, Aziza Mushiba, Soha Tashkandi, Yahya Almashham, Khelad Alsaidi, Abdulrazaq Albohigan, Amer Jamhawi, Mohammad Alkheilewi, Maryam Alotaibi

Subjects: “…chromosomal microarray…”
Get full text