Results 101 to 110 of about 48,766 (300)

Intra-uterine fetal demise caused by amniotic band syndrome after standard amniocentesis [PDF]

open access: yes, 2000
The amniotic band syndrome represents a prime example of exogenous disruption of an otherwise normal feta I development. It may be a sequel of invasive diagnostic procedures such as amniocentesis or fetal blood sampling. A 38-year-old gravida II, para II
Bauerfeind, I.   +4 more
core   +1 more source

Facilitating Genetic Testing for Perinatal Demise: Development of a Multidisciplinary Workflow

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic contributors to perinatal demise are common but frequently undiagnosed due to clinical and logistical barriers. We aimed to improve access to genetic for intrauterine fetal demise (IUFD), stillbirth, and early neonatal death by developing a multidisciplinary workflow.
Mackenzie Mosera   +15 more
wiley   +1 more source

Prenatal diagnosis of paternal duplication of 11p15.5→14.3: Its implication of Beckwith–Wiedemann syndrome

open access: yesTaiwanese Journal of Obstetrics & Gynecology, 2016
Objective: To characterize a prenatally detected chromosomal aberration with molecular cytogenetic approaches and explore its relationship with Beckwith–Wiedemann syndrome (BWS).
Kuan Ju Chen   +4 more
doaj   +1 more source

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

open access: yesAmerican 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   +13 more
wiley   +1 more source

Evaluation of an automated karyotyping system for chromosome aberration analysis [PDF]

open access: yes
Chromosome aberration analysis is a promising complement to conventional radiation dosimetry, particularly in the complex radiation fields encountered in the space environment.
Prichard, Howard M.
core   +1 more source

Uncovering Proximity of Chromosome Territories using Classical Algebraic Statistics [PDF]

open access: yes, 2014
Exchange type chromosome aberrations (ETCAs) are rearrangements of the genome that occur when chromosomes break and the resulting fragments rejoin with other fragments from other chromosomes.
Arsuaga, Javier   +3 more
core  

Multimaterial Triphasic Scaffold Replicates Enthesis Microenvironment to Modulate Early Cell Responses

open access: yesAdvanced NanoBiomed Research, EarlyView.
A bioinspired triphasic scaffold integrating 3D printed polycaprolactone and electrospun poly(lactic‐co‐glycolic acid) is developed to replicate the organization of the tendon‐to‐bone enthesis. Cyclic mechanical stimulation induces spatially defined cell morphology and lineage‐related gene expression in human mesenchymal stem cells, highlighting the ...
Ginevra Pegollo   +7 more
wiley   +1 more source

Establishment of Interspecies Somatic Cell Nuclear Transfer and Transgene‐Free Inducible Pluripotent Stem Cells for Versatile Conservation of the Germplasm Resource of Wild Boar

open access: yesAnimal Research and One Health, EarlyView.
Conserving genetic material and even increasing genetic diversity is critical. To conduct the conservation of wild boar germplasm resources, we have successfully obtained healthy cloned wild boars for the first time using interspecies somatic cell nuclear transfer and established transgene‐free iPSCs that can be used to conduct iterative rounds of gene
Chen Gao   +11 more
wiley   +1 more source

Modern competency‐based teaching of human sexual development

open access: yesAnatomical Sciences Education, EarlyView.
Abstract Embryology is an integral part of anatomy and a key subject in basic medical education. The development of the sexual tract, which is closely associated with the formation of the urinary tract and the organs of continence, is particularly complex and relevant for many medical disciplines.
Elisabeth Eppler   +2 more
wiley   +1 more source

An automated system for chromosome analysis. Volume 1: Goals, system design, and performance [PDF]

open access: yes
The design, construction, and testing of a complete system to produce karyotypes and chromosome measurement data from human blood samples, and a basis for statistical analysis of quantitative chromosome measurement data is described.
Castleman, K. R., Melnyk, J. H.
core   +1 more source

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