Results 131 to 140 of about 98,141 (333)

Gene List Selection Matters: Missed Diagnoses in Prenatal Exome Sequencing—PanelApp R21 and HPO‐Driven Versus OMIM‐Based Gene Lists

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate whether the causative variants found upon clinical exome sequencing in fetuses affected with selected structural anomalies would also be detected if PanelApp‐R21 or Human Phenotype Ontology (HPO)‐driven gene selection terms were applied instead.
Victoria Ardiles‐Ruesjas, Laia Rodriguez‐Revenga, Montse Pauta, Alfons Nadal, Gemma Arca, Laura Gort, Stiven Ernesto Sinisterra‐Díaz, Antoni Borrell   +7 more
wiley   +1 more source

Multiwalled Carbon Nanotubes as Physical Drivers of Chromosome Instability and Inflammatory Responses

Small Structures, EarlyView.
This article highlights the fibrous morphology of multiwalled carbon nanotubes as a key factor in their genotoxicity. Fibers physically interfere in cell division, generating binucleated cells and micronuclei, both of which are precursors of carcinogenesis.
Núria Pulido‐Artola, Joan Repullés, Marina Rodriguez‐Muñoz, Teresa Anglada, Anna Genescà   +4 more
wiley   +1 more source

Selection forces underlying aneuploidy patterns in cancer

Molecular & Cellular Oncology
Aneuploidy, the presence of an aberrant number of chromosomes, has been associated with tumorigenesis for over a century. More recently, advances in karyotyping techniques have revealed its high prevalence in cancer: About 90% of solid tumors and 50–70 ...
Tamara C. Klockner, Christopher S. Campbell   +1 more
doaj   +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

Combination of aneuploidy and high S-phase fraction indicates increased risk of relapse in stage I endometrioid endometrial carcinoma [PDF]

, 2021
Annika Patthey, Karin Boman, Björn Tavelin, David Lindquist, Eva Lundin, Magnus Hultdin   +5 more
openalex   +1 more source

Cost–benefit analysis of first‐trimester pre‐eclampsia screening: comparison of multivariable Gaussian algorithm with and without placental growth factor

Ultrasound in Obstetrics &Gynecology, EarlyView.
ABSTRACT Objective Pre‐eclampsia (PE) is a leading cause of maternal and neonatal morbidity and mortality worldwide. Early identification of high‐risk pregnancies in the first trimester allows preventive treatment with low‐dose aspirin. This study aimed to evaluate whether multivariable Gaussian algorithm‐based PE screening strategies, with and without
E. Bonacina, M. Armengol‐Alsina, M. Dalmau, A. Casellas, E. Roldán, J. Temprado, E. Del Barco, A. Arias, R. Ferrer‐Costa, N. Maiz, M. Mendoza   +10 more
wiley   +1 more source

Comparison of clinical outcomes in programmed frozen embryo transfer cycles (FET) with and without blastocyst biopsy and aneuploidy screening [PDF]

, 2013
C. Wagner Coughlin, B. Kaplan, Angeline Beltsos, Alexis J. Maravilla, L. Ribustello, S. Munné   +5 more
openalex   +1 more source

Ultrasound features in early pregnancy for predicting abnormal karyotype in first‐trimester miscarriage

Ultrasound in Obstetrics &Gynecology, EarlyView.
ABSTRACT Objective To investigate whether combining abnormal morphological features observed on ultrasound in live pregnancies that ended in a first‐trimester miscarriage can predict an abnormal karyotype. Methods This retrospective observational cohort study was conducted at the early‐pregnancy assessment unit at University College London Hospital ...
T. Setty, S. L. Kastora, T. Tellum, J. Farren, E. Jauniaux, D. Jurkovic   +5 more
wiley   +1 more source

Generalisability of Maternal Genetic Risk Score for Birth Weight Across Racial Identity and Ancestry: A Secondary Analysis of a Prospective Cohort Study

BJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.
ABSTRACT Objective Maternal genotypes may be useful to customise foetal growth assessment, but generalisability across diverse racial and ancestral groups remains uncertain. We assessed the generalisability of a genetic risk score for birth weight (GRSBW), derived from participants of predominantly European ancestry, within a diverse U.S.
Bita Tristani‐Firouzi, Lisa Pappas, Merry Joseph, Maryam Zeinomar, Michelle P. Debbink, Joseph Mims, Rafael Guerrero, Barry Moore, Robert M. Silver, Tsegaselassie Workalemahu, David Haas, Jonathan G. Steller, George Saade, Nathan R. Blue   +13 more
wiley   +1 more source

Genetic engineering for SIT application: a fruit fly‐focused review

Insect Science, EarlyView.
Abstract Sterile insect technique (SIT) has become a key component of efficient pest control. Fruit fly pests from the Drosophilidae and Tephritidae families pose a substantial and overwhelmingly increasing threat to the agricultural industry, aggravated by climate change and globalization among other contributors.
Serafima Davydova, Danheng Yu, Angela Meccariello   +2 more
wiley   +1 more source