Results 41 to 50 of about 28,591 (117)

Functional Validation of a Novel Deep Intronic IMPG2 Variant Causing Pseudoexon Activation in Retinitis Pigmentosa with Macular Involvement

The Application of Clinical Genetics
Guobing Zheng,1,* Chenxia Xu,1,* Fenghua Xie,1 Qiaoli Li,2 Zhanhui Ou,3 Degang Wang,1 Haijun Li1 1Prenatal Diagnosis Center, Boai Hospital of Zhongshan, Zhongshan, Guangdong, 528400, People’s Republic of China; 2Department of ...
Zheng G, Xu C, Xie F, Li Q, Ou Z, Wang D, Li H   +6 more
doaj  

Chromosome microarray analysis in the investigation of children with congenital heart disease

BMC Pediatrics, 2017
Background Our study was aimed to explore the clinical implication of chromosome microarray analysis (CMA) in genetically etiological diagnosis of children with congenital heart disease (CHD).
Xiao-li Wu, Ru Li, Fang Fu, Min Pan, Jin Han, Xin Yang, Yong-ling Zhang, Fa-tao Li, Can Liao   +8 more
doaj   +1 more source

Optical genome mapping of a complex structural rearrangement family line on chromosome 18

Hereditas
Background Complex chromosomal rearrangement (CCR) refers to a structural rearrangement involving at least two chromosomes or a minimum of three breakpoints.
Liyi Cai, Yuying Jiang, Na Zhang, Xinying Chen   +3 more
doaj   +1 more source

Chromosomal microarray analysis for prenatal diagnosis of uniparental disomy: a retrospective study

Molecular Cytogenetics
Background Chromosomal microarray analysis (CMA) is a valuable tool in prenatal diagnosis for the detection of chromosome uniparental disomy (UPD).
Chenxia Xu, Miaoyuan Li, Tiancai Gu, Fenghua Xie, Yanfang Zhang, Degang Wang, Jianming Peng   +6 more
doaj   +1 more source

Prenatal diagnosis in fetal right aortic arch using chromosomal microarray analysis and whole exome sequencing: a Chinese single-center retrospective study

Molecular Cytogenetics
Background Right aortic arch (RAA) is a common congenital aortic arch abnormality. Fetuses with RAA frequently have good outcomes after birth. However, chromosomal abnormalities and genetic syndromes suggest poor prognosis for these patients.
Lu Zhang, Ruibin Huang, Hang Zhou, Xiaomei Lin, Fei Guo, Xiangyi Jing, Yongling Zhang, Fucheng Li, Fatao Li, Qiuxia Yu, Dan Wang, Guilan Chen, Fang Fu, Min Pan, Jin Han, Dongzhi Li, Ru Li   +16 more
doaj   +1 more source

Prenatal diagnosis of 4953 pregnant women with indications for genetic amniocentesis in Northeast China

Molecular Cytogenetics, 2019
Background Several different technologies are used for prenatal screening procedures and genetic diagnostic technologies. We aimed to investigate the rates of chromosomal abnormalities in cases with different abnormal prenatal indications and to ...
Rulin Dai, Yang Yu, Qi Xi, Xiaonan Hu, Haibo Zhu, Ruizhi Liu, Ruixue Wang   +6 more
doaj   +1 more source

Evaluating the safety and outcomes of third-trimester selective termination in dichorionic twin pregnancies with discordant anomalies—a standardized approach for counseling

Archives of Gynecology and Obstetrics
Objective To evaluate procedure-related preterm birth (PTB) following third-trimester selective termination (ST) in DC twins and to compare delivery timing with expectantly managed discordant DC twins and non-anomalous DC twins.
Adeline Walter, Anne Flöck, Jorge Jiménez-Cruz, Brigitte Strizek, Ulrich Gembruch, Annegret Geipel   +5 more
doaj   +1 more source

Association of prenatal Cleft Lip and Palate ultrasound abnormalities with copy number variants at a single Chinese tertiary center

Italian Journal of Pediatrics
Backgroud A systematic analysis was conducted to investigate the molecular etiology of fetal cleft lip and/or palate (CL/P) and the association between various types of CL/P and copy number variations (CNVs), as well as their impact on birth outcomes ...
Shujuan Yan, Qiuxia Yu, Hang Zhou, Ruibin Huang, You Wang, Chunling Ma, Fei Guo, Fang Fu, Ru Li, Fucheng Li, Xiangyi Jin, Li Zhen, Min Pan, Dongzhi Li, Can Liao   +14 more
doaj   +1 more source

PRENATAL NURSING [PDF]

AJN, American Journal of Nursing, 1913
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openaire   +1 more source

Medical student training with next-generation handheld ultrasound devices – hands on examination of fetal biometry in obstetrics

BMC Medical Education
Introduction The technical development of ultrasound devices based on silicon chips has revolutionized ultrasound examinations, leading to the implementation of these portable handheld devices (PUD) in different medical fields. However, training on these
Ruben Plöger, Julia Matschl, Adeline Walter, Ulrich Gembruch, Brigitte Strizek, Charlotte Behning, Agnes Wittek, Florian Recker   +7 more
doaj   +1 more source