Results 171 to 180 of about 167,748 (392)

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

Low‐contrast visual acuity versus low‐luminance visual acuity in choroideremia

Clinical and Experimental Optometry, EarlyView., 2020
Clinical relevance Choroideremia is a progressive X‐linked inherited rod‐cone dystrophy. Patients present with nyctalopia and progressive visual field loss, but visual acuity remains well preserved early on. This study showed that low‐luminance visual acuity may be a useful clinical outcome measure during earlier disease stages.
Laura J Wood, Jasleen K Jolly, Colm D Andrews, Iain R Wilson, Doron Hickey, Jasmina Cehajic‐Kapetanovic, Robert E MacLaren   +6 more
wiley   +1 more source

ZFP423 regulates early patterning and multiciliogenesis in the hindbrain choroid plexus

, 2020
Filippo Casoni, Laura Croci, Francesca Vincenti, Paola Podini, Michela Riba, Luca Massimino, Ottavio Cremona, G. Giacomo Consalez   +7 more
openalex   +2 more sources

The Incremental Yield of CMA Over Karyotype in Fetal Growth Restriction—A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT The main objective of our study was to conduct a systematic literature review and a meta‐analysis to evaluate the incremental yield of chromosomal microarray analysis compared with karyotyping in cases of fetal growth restriction. Our review was designed according to the PRISMA guidelines.
Ioakeim Sapantzoglou, Evangelia Kontogeorgi, Vasilios Pergialiotis, Konstantinos Tasias, Angeliki Rouvali, Afroditi Pegkou, Marianna Theodora, Georgios Daskalakis, Panagiotis Antsaklis   +8 more
wiley   +1 more source

Evidence for reduced choroid plexus volume in the aged brain

Fluids and Barriers of the CNS
Background The choroid plexus plays an important role in brain homeostasis, including the active secretion of cerebrospinal fluid. Its function and structure have been reported to be affected by normal ageing. However, existing measures of choroid plexus
R. Youh, C. Perera, C. Katsiva, I. F. Harrison, M. F. Lythgoe, D. K. Wright, S. Nizari, Jack A. Wells   +7 more
doaj   +1 more source

Clinical Utility of Nuchal Translucency Measurement in First‐Trimester Ultrasound Screening in a Setting With First‐Tier NIPT for Aneuploidy Screening

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the additional clinical value of nuchal translucency (NT) measurement at the first‐trimester anomaly scan (FTAS) in a setting with first‐tier non‐invasive prenatal testing (NIPT). Method This nationwide prospective cohort study, part of the IMITAS study on FTAS implementation, included all pregnancies with increased NT
Eline E. R. Lust, Kim Bronsgeest, Lidewij Henneman, Neeltje M. T. H. Crombag, Caterina M. Bilardo, Robert‐Jan H. Galjaard, Esther Sikkel, Audrey B. C. Coumans, Ayten Elvan‐Taşpınar, Sander Galjaard, Attie T. J. I. Go, Gwendolyn T. R. Manten, Eva Pajkrt, Elisabeth van Leeuwen, Monique C. Haak, Mireille N. Bekker   +15 more
wiley   +1 more source

Can Prenatal Ultrasonographic Markers Predict Enteral Feeding Tolerance in Neonates With Fetal Omphalocele?

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This study aimed to identify prenatal ultrasonographic predictors of enteral feeding tolerance in neonates with omphaloceles. Method This retrospective cohort study included all live‐born neonates prenatally diagnosed with omphalocele at Emma Children's Hospital/Amsterdam UMC approximately 2004–2024.
Maaike Hogerwerf, Hanna Heinrich, Merit M. Tabbers, Ramon R. Gorter, Bart G. P. Koot, Jos W. R. Twisk, Eva Pajkrt, Joep P. M. Derikx   +7 more
wiley   +1 more source

Aging in Ocular Blood Vessels: Molecular Insights and the Role of Oxidative Stress

Biomedicines
Acknowledged as a significant pathogenetic driver for numerous diseases, aging has become a focal point in addressing the profound changes associated with increasing human life expectancy, posing a critical concern for global public health.
Xiuting Cui, Francesco Buonfiglio, Norbert Pfeiffer, Adrian Gericke   +3 more
doaj   +1 more source

Claudin-1, -2 and -3 Are Selectively Expressed in the Epithelia of the Choroid Plexus of the Mouse from Early Development and into Adulthood While Claudin-5 is Restricted to Endothelial Cells [PDF]

, 2016
Alexandra Steinemann, Isabel Galm, Sophorn Chip, Cordula Nitsch, I. Piotr Maly   +4 more
openalex   +1 more source

Can Prenatal Ultrasound and Genetic Testing Reliably Exclude Non‐Isolated Clubfoot?

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective The aim of this study is to evaluate the efficacy of prenatal second trimester ultrasound in diagnosing isolated congenital clubfoot and to assess the role of prenatal genetic testing. Methods We conducted a retrospective cohort study in the North‐West region of the Netherlands with prenatally suspected clubfoot between 16 and 24 ...
Jana M. de Vries, Arda Arduc, Elisabeth van Leeuwen, Maria B. Tan – Sindhunata, Peter Struijs, Melinda Witbreuk, Ingeborg H. Linskens, Eva Pajkrt   +7 more
wiley   +1 more source