Results 171 to 180 of about 109,479 (290)

Prenatal Tympanic Ring Anomaly Without Microtia: A Subtle Clue Toward Severe Early‐Onset Monogenic Disorders

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the genetic etiologies and clinical significance of fetal tympanic ring abnormalities detected during second‐trimester ultrasound in the absence of microtia. Method Between November 2019 and June 2024, we examined the fetal tympanic rings of 10,277 unselected pregnant women during the 20–22 weeks of morphology ...
Yung Hang Lam, Mengmeng Shi, Zirui Dong, Kwong Wai Choy, Tak Yeung Leung, Ye Cao   +5 more
wiley   +1 more source

Chromosomal microarray analysis for the prenatal diagnosis in fetuses with fetal echogenic bowel: a retrospective cohort study. [PDF]

BMC Pregnancy Childbirth
Wu W, Tian M, Liu M, Man D, Wang F.
europepmc   +1 more source

Reproductive outcomes in couples with sporadic miscarriage after embryonic chromosomal microarray analysis. [PDF]

Ann Med, 2023
Xia Z, Zhou R, Li Y, Meng L, Huang M, Tan J, Qiao F, Zhu H, Hu P, Zhu Q, Xu Z, Wang Y.   +11 more
europepmc   +1 more source

Impact of Genomic Mutations on the Transcriptional Pathways and Tumor Microenvironment Landscape of Localized Early Prostate Cancer

The Prostate, EarlyView.
ABSTRACT Background The management of intermediate‐risk early prostate cancer (PCa) is challenging due to the difficulty in distinguishing indolent from aggressive tumors. This study explores the association between genomic alterations and the tumor and its microenvironment (TME) and implications for disease progression. Methods We performed multi‐omic
William Lautert‐Dutra, Camila M. Melo, Luiz P. Chaves, Francisco C. Souza, Vida Talebian, Cheryl Crozier, Mary Anne Quintayo, Linda Liao, Dan Dion, Fabiano P. Saggioro, Felipe S. Avante, Rodolfo B. dos Reis, Jeremy A. Squire, Jane Bayani   +13 more
wiley   +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

AB019. Clinical chromosomal microarray analysis in Singapore

Annals of Translational Medicine, 2017
Breana Cham, Angeline Lai
openaire   +2 more sources

Impact of socioeconomic status and remoteness of residence on pregnancy outcome in major congenital heart disease: mediation analysis

Ultrasound in Obstetrics &Gynecology, EarlyView.
ABSTRACT Objective Increased remoteness of residence (RoR) and lower socioeconomic status (SES) negatively impact the rate and gestational age (GA) at the diagnosis of major congenital heart disease (mCHD). We examined the direct and indirect relationships of RoR from a tertiary fetal cardiology center and Chan SES index with the rate of termination of
S. Bennett, L. K. Hornberger, A. Kaur, D. Fruitman, L. G. Eckersley   +4 more
wiley   +1 more source

Gonadal Development–Related Genes and a Male‐Specific Genetic Marker Identified in the Endangered Sichuan Taimen (Hucho bleekeri)

Integrative Zoology, EarlyView.
Integrated transcriptomic and proteomic analyses were used to validate gonadal development–related genes and to identify a sex‐specific molecular marker in Hucho bleekeri. ABSTRACT Sex determination and differentiation represent fundamental topics in reproductive biology. Sichuan taimen (Hucho bleekeri), a first‐class national protected fish species in
Qinyao Wei, Hua Li, Yeyu Chen, Huanchao Yang, Jun Du, Zhaobin Song   +5 more
wiley   +1 more source

Genome‐wide analysis of DNA methyltransferases in a model extremophyte, Schrenkiella parvula: Transcriptional dynamics during development and under salt stress

Annals of Applied Biology, EarlyView.
Classification of DMTs into 4 subfamilies: two METs, three CMTs, three DRMs, and one DNMT2. The cis‐elements are associated with stress‐response, hormonal regulation, light‐response, and development. RNA‐seq analysis revealed differential expression of DMTs under NaCl stress.
Seher Yolcu, Amin Mirshamsi Kakhki, Ahmad Jalilian, Emre Sevindik, Ismail Turkan   +4 more
wiley   +1 more source

Integrated Methylome–Transcriptome Analysis Reveals Epigenomic Remodeling and Rho GTPase–Linked Immune–Epithelial Crosstalk in Atopic Dermatitis

Allergy, EarlyView.
Integrated methylome–transcriptome–microbiome analysis of AD skin identified thousands of DMRs. Rho GTPase signaling and actin–junctional programs emerged as central hubs integrating immune, epithelial, and microbial interactions in the pathogenesis of atopic dermatitis.
Tiina Skoog, Ying Yang, Peter Olah, Shintaro Katayama, Piia Karisola, Catherine Smith, Stephan Weidinger, Jonathan Barker, Antti Lauerma, Björn Andersson, Bernhard Homey, Nanna Fyhrquist, Juha Kere, Harri Alenius, MAARS Consortium, Francesca Levi‐Schaffer, Dario Greco, Stefanie Prast‐Nielsen, Vassili Soumelis, Sophia Tsoka, Jens M. Schröder, Frank O. Nestle, Philippe Hupé   +22 more
wiley   +1 more source