Results 221 to 230 of about 175,360,748 (298)

High Diagnosis Rate for Nonimmune Hydrops Fetalis With Prenatal Clinical Genome: Expanded Results From the Hydrops‐Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nonimmune hydrops fetalis (NIHF) is characterized by abnormal fluid accumulation in ≥ 2 fetal compartments and may be genetic. The incremental diagnostic yield of prenatal exome sequencing (ES) for NIHF following a negative standard workup was previously explored on 22 cases.
Stephanie M. Rice   +10 more
wiley   +1 more source

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman   +11 more
wiley   +1 more source

Real-World Comparison of Balloon-Expandable Valves for Transcatheter Aortic Valve Replacement: Data From the Aortic+Mitral TRAansCatheter Valve Registry. [PDF]

open access: yesStruct Heart
Talmor-Barkan Y   +32 more
europepmc   +1 more source

The Role of Glutamatergic and Dopaminergic Genes in Resistant Schizophrenia: A Systematic Review

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Psychosis is a heterogeneous disorder, with approximately one‐third of patients experiencing treatment resistance, predominantly among individuals diagnosed with Schizophrenia. Treatment‐resistant schizophrenia (TRS) may stem from a distinct biological signature, involving abnormalities in the dopaminergic and glutamatergic systems.
Maria Teresa Moreno‐Calle   +3 more
wiley   +1 more source

Covalent Immobilisation of PVA‐MA Hydrogels on Plasma‐Activated Coatings: Achieving Superior Adhesion by Reagent‐Free Formation of a Nanoscale Primer Layer

open access: yesAdvanced NanoBiomed Research, EarlyView.
Robust attachment of hydrogels to solid substrates is critical to success in cell culture where hydrostatic and contractile forces can contribute to delamination of weakly adhered gels. This novel approach forms a nanometer‐scale, reagent‐free hydrogel primer layer to provide improved resistance to delamination of subsequent bulk hydrogel layers in a ...
Sophia C. Franklin   +7 more
wiley   +1 more source

Silk Fibroin for Cardiovascular Medical Devices: Review of Material Properties, Applications, and Clinical Potential

open access: yesAdvanced NanoBiomed Research, EarlyView.
Silk fibroin is an attractive natural biomaterial that can be engineered into diverse cardiovascular constructs, including vascular grafts, cardiac patches, heart valves, and stent coatings. Its tunable biological and mechanical properties have driven substantial preclinical progress; however, widespread clinical translation in cardiovascular ...
Mahsa Haghighattalab   +8 more
wiley   +1 more source

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