Results 171 to 180 of about 54,834 (268)

OC02.05: What is the chance for pathogenic chromosomal microarray analysis results in structurally normal fetuses? [PDF]

, 2019
Hagit Daum, Shira Stern, Vardiella Meiner, Simcha Yagel, Shamir Zenvirt, Shiri Shkedi‐Rafid, M. Macrov, D. V. Valsky, Shay Porat, N. Yanai, Ayala Frumkin   +10 more
openalex   +1 more source

Prenatal Recurrence of Ductal Plate Malformations Leads to PKHD1 Variant Reclassification

Prenatal Diagnosis, EarlyView.
ABSTRACT Ductal plate malformations (DPM) encompass a spectrum of congenital liver disorders characterized by abnormal bile duct development, often associated with conditions such as Caroli disease. Variants in the PKHD1 gene cause a wide spectrum of DPM, but genotype–phenotype correlations remain challenging.
Mario Abaji, Laurent Nasca, Marie‐Pierre Audrezet, Bénédicte Gerard, Xavier Vanhoye, Cécile Chau, Claude D’Ercole, Annie Levy‐Mozziconacci   +7 more
wiley   +1 more source

Fetal Pancreas in Growth Restriction: A Prenatal Window Into Metabolic and Genetic Risk

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Animal models have demonstrated impaired pancreatic islet development in fetal growth restriction (FGR) cases, which can become apparent at or before birth and persist into adulthood, resulting in glucose intolerance. This study assessed the relationship between fetal pancreatic biometry and FGR.
Hadas Miremberg, Catharina Bobrow, Noa Feldman, Noa Haggiag, Catherine Garel, Gustavo Malinger, Karina Krajden Haratz, Sharon Perlman   +7 more
wiley   +1 more source

Etiological diagnosis of miscarriage by combining use of chromosomal microarray analysis and whole-exome sequencing. [PDF]

Eur J Med Res
Zhuang J, Fu W, Gu L, Ye X, Wang J, Chen C.   +5 more
europepmc   +1 more source

Prenatal Exome Sequencing Analysis in Fetuses With Structural Anomalies: A Multicenter Prospective Cohort Study With Practical Implications

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the diagnostic value of prenatal exome sequencing (ES) integrated with copy number variant (CNV) and single nucleotide variant (SNV) analysis (ES‐CNV/SNV) in fetuses with structural anomalies following negative chromosomal microarray analysis (CMA) and karyotyping, and to delineate the practical challenges encountered ...
Yulin Jiang, Haibo Li, Xiangyu Zhu, Liangpu Xu, Ying Chang, Fengqun Dong, Jianping Xiao, Jian Gao, Minyue Dong, Ying Peng, Hua Jin, Ting Wang, Xiaoxiao Xie, Lin Zhang, Hongmei Zhuang, Na Hao, Xiya Zhou, Hongna Wang, Ying You, Kun Ma, Rui Xiao, Qingwei Qi   +21 more
wiley   +1 more source

Interpreting Discordant Monosomy 3 FISH and Chromosomal Microarray Analysis Results in Uveal Melanoma. [PDF]

Diagnostics (Basel), 2023
Long CP, Coley N, Thorson J, Lin JH.
europepmc   +1 more source

Supplementary Material for: Chromosomal Microarray Analysis in Fetuses with Growth Restriction and Normal Karyotype: A Systematic Review and Meta-Analysis

, 2017
A. Borrell, Maribel Grande, Montse Pauta, Laia Rodríguez‐Revenga, F. Figueras   +4 more
openalex   +2 more sources

Sample Preparation for Multi‐Omics Analysis: Considerations and Guidance for Identifying the Ideal Workflow

PROTEOMICS, EarlyView.
ABSTRACT Advances in methodologies and technologies over the past decade have led to an unprecedented depth of analysis of a cell's biomolecules, with entire genomes able to be sequenced in hours and up to 10,000 transcripts or ORF products (proteins) able to be quantified from a single cell.
Breyer Woodland, Luke A. Farrell, Lana Brockbals, Maria Rezcallah, Aiden Brennan, Emily J. Sunnucks, Sam T. Gould, Aleksandra M. Stanczak, Matthew B. O'Rourke, Matthew P. Padula   +9 more
wiley   +1 more source

Cornelia de Lange Syndrome Caused by an Intragenic Heterozygous Deletion in <i>RAD21</i> Detected through Very-High-Resolution Chromosomal Microarray Analysis. [PDF]

Genes (Basel), 2023
Abarca-Barriga HH, Punil Luciano R, Vásquez Sotomayor F.   +2 more
europepmc   +1 more source

Prenatal detection and outcome of major heart defects in a country with universal screening

Ultrasound in Obstetrics &Gynecology, EarlyView.
ABSTRACT Objective To evaluate the Danish prenatal screening program for major fetal congenital heart defects (mCHD), focusing on incidence, detection rates (DRs), pregnancy outcomes and postnatal mortality. Methods This was a 5‐year nationwide cohort study conducted from January 2018 to December 2022 in Denmark.
C. Vedel, J. Steensberg, O. B. Petersen, H. Andersen, M. Barbosa, M. Christiansen, V. Gjørup, A. N. Jensen, K. Munk, K. Nyborg, A. W. Olesen, F. Ravn, L. Sperling, H. G. H. Thyregod, N. Vejlstrup, C. K. Ekelund   +15 more
wiley   +1 more source