Results 41 to 50 of about 22,195,386 (187)

Association of non-invasive prenatal testing and chromosomal microarray analysis for prenatal diagnostics

, 2020
The purposes of this study is to examine possibility to use combination of non-invasive prenatal testing (NIPT) and chromosomal microarray analysis (CMA) for prenatal diagnostics and their advantages between combined first-trimester screen with ...
Kanivets I., Korostelev S., Totchiev G., Gnetetskaya V.   +3 more
core   +2 more sources

High Diagnosis Rate for Nonimmune Hydrops Fetalis With Prenatal Clinical Genome: Expanded Results From the Hydrops‐Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nonimmune hydrops fetalis (NIHF) is characterized by abnormal fluid accumulation in ≥ 2 fetal compartments and may be genetic. The incremental diagnostic yield of prenatal exome sequencing (ES) for NIHF following a negative standard workup was previously explored on 22 cases.
Stephanie M. Rice, Mona M. Makhamreh, Sascha Wodoslawsky, Mariella Toro, Elizabeth Critchlow, Brandy Firman, Ruby Liu, Babi Ramesh Nallamilli, Madhuri Hegde, Seth I. Berger, Huda B. Al‐Kouatly   +10 more
wiley   +1 more source

Comparative genomics in chicken and Pekin duck using FISH mapping and microarray analysis [PDF]

, 2009
BACKGROUND: The availability of the complete chicken (Gallus gallus) genome sequence as well as a large number of chicken probes for fluorescent in-situ hybridization (FISH) and microarray resources facilitate comparative genomic studies between ...
Ioannou, D., Völker, Martin, Robertson, Lindsay, Langley, Elizabeth J, Robertson, Lindsay BW, Tempest, Helen G, Skinner, Benjamin M., Tempest, Helen G., Tempest, H., Völker, M., Skinner, M., Crooijmans, Richard P.M.A., Hall, Anthony D, Fowler, K., Skinner, Benjamin M, Robertson, L.B., Crooijmans, Richard PMA, Skinner, B., Fowler, Katie E., Griffin, Darren K, Langley, E.J., Crooijmans, R.P.M.A., Griffin, D., Hall, A., Robertson, L., Tempest, H.G., Ioannou, Dimitris, Fowler, K.E., Crooijmans, R., Griffin, Darren K., Langley, E.   +30 more
core   +1 more source

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright, Maria B. Padua, Lindsey R. Helvaty, Kim L. McBride, Gabrielle Geddes, Vidu Garg, Seema R. Lalani, Stephanie Burns Wechsler, Jennelle C. Hodge, Benjamin J. Landis, Stephanie M. Ware   +10 more
wiley   +1 more source

First Report of Uniparental Isodisomy of Chromosome 15 Revealing Angelman Syndrome and Microphthalmia Associated With a Novel Homozygous ALDH1A3 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Paternal isodisomy of chromosome 15 (iUPD15) is a recognized cause of Angelman syndrome (AS), accounting for approximately 2%–5% of cases. Additionally, another recognized consequence of iUPD is the unmasking of autosomal recessive disorders. However, reports of recessive disorders resulting from iUPD15 remain scarce in the literature.
Gabriela Roldão Correia‐Costa, Joana Rosa Marques Prota, Antonia Paula Marques‐de‐Faria, Carlos Eduardo Steiner, Társis Paiva Vieira   +4 more
wiley   +1 more source

Prenatal genetic diagnosis of omphalocele by karyotyping, chromosomal microarray analysis and exome sequencing

, 2021
Objectives The aim of this study is to share our experience in the prenatal diagnosis of omphalocele by karyotyping, chromosomal microarray analysis (CMA) and whole exome sequencing (WES).Methods In this retrospective study, 81 cases of omphalocele were ...
Xiue Yang, Jing Wu, Xiaomei Shi, Hongke Ding, Jian Lu, Hui Tang   +5 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

Prenatal diagnosis of genetic aberrations in fetuses with pulmonary stenosis in southern China: a retrospective analysis

BMC Medical Genomics, 2023
Background The genetic etiology of congenital pulmonary stenosis (PS) in fetuses remains inadequately studied. We used karyotype analysis and chromosomal microarray analysis (CMA) to investigate the genetic aberrations associated with PS in human fetuses.
Meiying Cai, Nan Guo, Meimei Fu, Yuqing Chen, Bin Liang, Yanting Que, Qingqiang Ji, Hailong Huang, Liangpu Xu, Na Lin   +9 more
doaj   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Optimal classifier selection and negative bias in error rate estimation: An empirical study on high-dimensional prediction [PDF]

, 2009
In biometric practice, researchers often apply a large number of different methods in a "trial-and-error" strategy to get as much as possible out of their data and, due to publication pressure or pressure from the consulting customer, present only the ...
Carolin Strobl, Anne-Laure Boulesteix, Boulesteix, Anne-Laure, Boulesteix Anne-Laure, Strobl Carolin, Strobl, Carolin   +5 more
core   +2 more sources