Publications by authors named "Maurice Jb van den Hoff"

Article Synopsis
  • The study evaluates the effectiveness of first-trimester versus second-trimester prenatal ultrasounds in detecting fetal structural anomalies in low-risk pregnant women.
  • It compares the accuracy of a single second-trimester scan to a combination of first- and second-trimester scans in identifying these anomalies before 24 weeks of gestation.
  • Methodology included a comprehensive literature search and analysis of various studies, with findings based on a meta-analysis of results from 87 studies involving over 7 million fetuses.
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Article Synopsis
  • The study explores the variability in human spleen morphology, focusing on the presence of clefts and accessory spleens, and hypothesizes that these variations arise from incomplete fusion of spleen primordia during development.
  • Researchers analyzed spleens from embryos, fetuses, and adults using various imaging techniques, and found no significant correlation between the developmental stage and the number of clefts present.
  • The results suggest that the spleen's morphological variations are normal and not indicative of developmental abnormalities, calling for a re-evaluation of terms like "persistent foetal lobulation."
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Article Synopsis
  • * A specific variant, p.I668F, was found to be common among Ashkenazi Jews, with a notable allele frequency of about 2%, indicating a potential genetic marker for these heart defects.
  • * The study revealed that PLD1 variants affected the protein's enzymatic activity, which is vital for heart development, and showed that inhibiting PLD1 could reduce early heart valve formation issues.
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Quantitative PCR allows the precise measurement of DNA concentrations and is generally considered to be straightforward and trouble free. However, a survey with 93 validated assays for genes in the Wnt-pathway showed that the amplification of nonspecific products occurs frequently and is unrelated to C or PCR efficiency values. Titration experiments showed that the occurrence of low and high melting temperature artifacts was shown to be determined by annealing temperature, primer concentration and cDNA input.

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