Results 271 to 280 of about 2,227,658 (392)

High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical Diagnostics

open access: yesClinical Genetics, EarlyView.
To assess the relevance of exome sequencing as a first‐tier diagnostic tool, three aspects were investigated: detection of copy number variants (CNVs) from exomes as compared to chromosomal microarray, clinically‐relevant CNVs across all sizes, and additional diagnostic utilities (uniparental disomy and triploidy).
Rivka Birnbaum   +13 more
wiley   +1 more source

Proteomic Characterization of Cardioprotective Human Acellular Amniotic Fluid. [PDF]

open access: yesACS Omega
Bia R   +6 more
europepmc   +1 more source

Human Adipose-Derived and Amniotic Fluid-Derived Stem Cells: A Preliminary In Vitro Study Comparing Myogenic Differentiation Capability

open access: hybrid, 2018
Anna Bajek   +7 more
openalex   +2 more sources

Biochemical Testing Promotes Interpretation of Variants of Uncertain Significance in Prenatal Genetic Disease Testing in Four Organic Acidurias

open access: yesClinical Genetics, EarlyView.
This review demonstrates how amniotic fluid biochemical testing provides critical phenotypic evidence (ACMG PP4) for reclassifying variants of uncertain significance (VUS) in prenatal organic acidurias. Integrating metabolite analysis with genetic testing enhances diagnostic accuracy and enables informed clinical decisions for affected families ...
Kaili Yin, Qingwei Qi
wiley   +1 more source

Amniotic fluid reduces liver fibrosis by attenuating hepatic stellate cell activation. [PDF]

open access: yesStem Cells Transl Med
Bowen CM   +9 more
europepmc   +1 more source

FAM20B Related Skeletal Dysplasia: Expanding the Prenatal Phenotype

open access: yesClinical Genetics, EarlyView.
FAM20B encodes glycosaminoglycan xylosylkinase, a key enzyme in proteoglycan biosynthesis. We report compound heterozygous FAM20B variants causing severe, lethal skeletal dysplasia in three fetuses from two pregnancies. Disrupted glycosaminoglycan chain formation leads to abnormal cartilage and bone development, illustrating the essential role of ...
Arda Arduç   +8 more
wiley   +1 more source

Proteomic analysis of secreted proteins derived from amniotic fluid stem cells. [PDF]

open access: yesCell Tissue Res
Phermthai T   +6 more
europepmc   +1 more source

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