Results 191 to 200 of about 54,834 (268)

Detection of chromosomal and gene abnormality with karyotyping, chromosomal microarray analysis and trio-based whole exome sequencing in pregnancies with fetal growth restriction: implications for precise prenatal diagnosis. [PDF]

BMC Pregnancy Childbirth
Chen Y, Cai M, Chen M, Pan X, Shen X, Song B, Cai X, Zhou L, Huang H.   +8 more
europepmc   +1 more source

Prenatal chromosomal microarray analysis of fetus with increased nuchal translucency

, 2018
So Hyun Shim, Dong Hyun
openalex   +2 more sources

Application of Chromosomal Karyotype Analysis Combined With Chromosomal Microarray Analysis in the Amniotic Fluid of Advanced Maternal Age. [PDF]

J Clin Lab Anal
Liu C, Lu Y, Zhang B, Yu L, He J, Ji Y.
europepmc   +1 more source

Should Prenatal Chromosomal Microarray Analysis Be Offered for Pulmonary Atresia? A Single-Center Retrospective Study in China. [PDF]

Genes (Basel), 2023
Wang Y, Ma C, Fu F, Zhou H, Cheng K, Huang R, Li R, Li D, Liao C.   +8 more
europepmc   +1 more source

Peer Review #1 of "Prenatal diagnosis of fetuses conceived by assisted reproductive technology by karyotyping and chromosomal microarray analysis (v0.2)"

, 2023
Huan Guo, Rui Sheng, Zhang Xiu, Xuemei Jin, Wenjing Gu, Ting Liu, Haixin Dong, Ran Jia, Ran Jia, Huan Guo, Rui Sheng, Xiu Zhang, Xuemei Jin, Wenjing Gu, Ting Liu, Haixin Dong, Ran Jia   +16 more
openalex   +2 more sources

Nationwide Danish Register Based Study Showed a Stable Prevalence of Congenital Diaphragmatic Hernias From 1994 to 2021 but a Decrease in Syndromic Cases

Acta Paediatrica, EarlyView.
ABSTRACT Aim Congenital diaphragmatic hernia (CDH) is a severe malformation with high morbidity and mortality. This Danish study evaluated the birth prevalence, co‐occurring malformations, and temporal trends of CDH over nearly three decades. Methods Nationwide data from the Danish Biobank Register were used to identify liveborn infants diagnosed with ...
Ulrik Lausten‐Thomsen, Paula L. Hedley, Kristin M. Conway, Katrine M. Løfberg, Lars S. Johansen, Paul A. Romitti, Michael Christiansen   +6 more
wiley   +1 more source

Prenatal diagnosis and genetic assessment of fetuses with single umbilical artery using chromosomal microarray analysis: a seven-year single-center retrospective study. [PDF]

BMC Pregnancy Childbirth
Zhuang J, Huang N, Chen Y, Wu J, Ye X, Chen C.   +5 more
europepmc   +1 more source

Identification of a novel isolated 4q35.2 microdeletion in a Chinese pediatric patient using chromosomal microarray analysis: a case report and literature review. [PDF]

Mol Cytogenet, 2023
Zhuang J, Liu S, Chen X, Jiang Y, Chen C.   +4 more
europepmc   +1 more source

Prenatal diagnosis of de novo monosomy 18p deletion syndrome by chromosome microarray analysis

, 2019
Hong Qi, Jianjiang Zhu, Shaoqin Zhang, Lirong Cai, Xiaohui Wen, Wen Zeng, Guodong Tang, Yao Luo   +7 more
openalex   +1 more source

The diagnostic performance of the basic versus the detailed telomere Flow FISH test in young patients with aplastic anaemia

British Journal of Haematology, EarlyView.
Summary Identifying telomere biology disorders (TBDs) in patients with aplastic anaemia (AA) is essential for guiding appropriate care. Telomere length (TL) measurement by flow cytometry with fluorescence in situ hybridization supports diagnosis, but the real‐world performance of the basic test (lymphocytes and granulocytes) versus the detailed test ...
Nicholas F. DeCleene, Duc T. Nguyen, Susan E. Kirk, Hannah L. Helber, Ghadir S. Sasa, Alison A. Bertuch   +5 more
wiley   +1 more source