Results 61 to 70 of about 109,479 (290)

Chromosomal Microarray Analysis for the Prenatal Diagnosis in Fetuses with Nasal Bone Hypoplasia: A Retrospective Cohort Study

Risk Management and Healthcare Policy, 2021
Hailong Huang,1,* Meiying Cai,1,* Wei Ma,1,2 Na Lin,1 Liangpu Xu1 1Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou City, Fujian Province ...
Huang H, Cai M, Ma W, Lin N, Xu L
doaj  

Prenatal diagnosis and molecular cytogenetic characterization of an inherited microdeletion of 18q12.3 encompassing SETBP1

Journal of International Medical Research, 2022
The 18q12.3 region contains the SET binding protein 1 (SETBP1) gene. SETBP1 mutations or deletions are associated with Schinzel–Giedion syndrome or intellectual developmental disorder, autosomal dominant 29.
Yaqing Zhou, Yan Quan, Yijun Wu, Yinxing Zhang   +3 more
doaj   +1 more source

9q21.13q21.31 deletion in a patient with intellectual disability severe speech delay and and dysmorphic features a newly recognized microdeletion syndrome [PDF]

, 2019
The increased use of chromosomal microarray analysis has led to the identification of new microdeletion/microduplication syndromes, enabling better genotype-phenotype correlations.
Correia, Hildeberto, Ferreira, Cristina, Gonçalves, Rui, Marques, Barbara, Pedro, Sonia, Serafim, Silvia, Tarelho, Ana Rita   +6 more
core   +1 more source

Array comparative genomic hybridization and flow cytometry analysis of spontaneous abortions and mors in utero samples [PDF]

, 2009
Background: It is estimated that 10-15% of all clinically recognised pregnancies result in a spontaneous abortion or miscarriage. Previous studies have indicated that in up to 50% of first trimester miscarriages, chromosomal abnormalities can be ...
Björn Menten, Katrien Swerts, Barbara Delle Chiaie, Sandra Janssens, Karen Buysse, Jan Philippé, Frank Speleman, T Hassold, V Jobanputra, M Goddijn, KA Bell, B Lomax, J Menasha, DL Bruno, D Diego-Alvarez, D Diego-Alvarez, DN Azmanov, M Daniely, B Fritz, Y Hu, A Kallioniemi, AC Tabet, J Berezowsky, B Menten, D Pinkel, S Solinas-Toldo, B Menten, K Benirschke, M Benkhalifa, M Nagaishi, AJ Schaeffer   +30 more
core   +1 more source

Clinical and genetic analysis of two phenotypically normal families carrying 4p16.1 microduplications

Taiwanese Journal of Obstetrics & Gynecology
Objective: To help determine the pathogenicity of 4p16.1 microduplications, we reported two asymptomatic families carrying this variation. Case report: We present the prenatal diagnosis and genetic analysis of two normal families with 4p16.1 ...
Xiaolin Wang, Yujiao Wang, Xinqiang Lan
doaj   +1 more source

Phenotypic findings and pregnancy outcomes of fetal rare autosomal aneuploidies detected using chromosomal microarray analysis

Human Genomics, 2022
Background Aneuploidies are the most common chromosomal abnormality and the main genetic cause of adverse pregnancy outcomes. Since numerous studies have focused on common trisomies, relatively little is known about the association between phenotypic ...
Rong Hu, Weiwei Huang, Weining Zhou, Xiaohui Luo, Congmian Ren, Huajie Huang, Yaping Hou, Li Guo, Wei He, Jian Lu   +9 more
doaj   +1 more source

Uterine selection of human embryos at implantation [PDF]

, 2014
Human embryos frequently harbor large-scale complex chromosomal errors that impede normal development. Affected embryos may fail to implant although many first breach the endometrial epithelium and embed in the decidualizing stroma before being rejected ...
A Mertzanidou, B Cloke, B Crespi, BC Han, BM Forman, CH Weimar, D Emera, D Emera, D Haig, DM Benbrook, E Rajcan-Separovic, E Vanneste, EB Chuong, EM Heijnen, FU Hartl, G Teklenburg, GW Wong, H Yang, HH Kampinga, JJ Brosens, JJ Brosens, LA Kazal, M Furuhashi, M Iwaki, M Ohmuraya, M Salker, MD Stephenson, MS Salker, MS Salker, N Arimura, N Mansouri-Attia, N Sharma, N Sharma, NS Macklon, P Walter, R Rai, S Altmae, S Kaushik, S Quenby, T Iwawaki, T Kadowaki, Y Kabeya, YC Ruan, YH Yang, YJ Kim   +44 more
core   +2 more sources

Transcriptional profiling of circulating extracellular vesicles from prebiopsy prostate cancer patients

Molecular Oncology, EarlyView.
RNA profiling of circulating extracellular vesicles (EVs) from blood samples of men undergoing prostate biopsy identifies transcripts associated with clinically significant prostate cancer. Integrative analysis with public tumor datasets links EV‐derived gene signatures to tumor stage and progression‐free survival, highlighting CASP3, XRCC2, and RIT1 ...
Stefan Werner, Pierre Tennstedt, Randi C. Pose, Christian Müller, Katharina Besler, Svenja Schneegans, Malik Alawi, Marie C. Roesch, Sven Peine, Desiree Bonci, Joanna Budna‐Tukan, Evi Lianidou, Catherine Alix‐Panabières, Derya Tilki, Klaus Pantel   +14 more
wiley   +1 more source

Mosaic Tetrasomy of 9p24.3q21.11 postnatally identified in an infant born with multiple congenital malformations: a case report

BMC Pediatrics, 2018
Background Supernumerary Marker Chromosomes consist in structurally abnormal chromosomes, considered as an extra chromosome in which around 70% occur as a de novo event and about 30% of the cases are mosaic. Tetrasomy 9p is a rare chromosomal abnormality
Irene Plaza Pinto, Lysa Bernardes Minasi, Raphael Steckelberg, Claudio Carlos da Silva, Aparecido Divino da Cruz   +4 more
doaj   +1 more source

Prenatal diagnosis of Williams-Beuren syndrome by ultrasound and chromosomal microarray analysis

Molecular Cytogenetics, 2022
Background There are a few literature reports of prenatal ultrasound manifestations of Williams-Beuren syndrome. We aimed to explore the prenatal diagnosis of Williams-Beuren syndrome by ultrasound and chromosomal microarray analysis and describe the ...
Ruibin Huang, Hang Zhou, Fang Fu, Ru Li, Tingying Lei, Yingsi Li, Ken Cheng, You Wang, Xin Yang, Lushan Li, Xiangyi Jing, Yongling Zhang, Fucheng Li, Dongzhi Li, Can Liao   +14 more
doaj   +1 more source