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11,503 results
  • Hirschsprung disease: Insights on genes, penetrance, and prenatal diagnosis. [Review]
    Neurogastroenterol Motil 2019; 31(11):e13732Wang XJ, Camilleri M
  • The objective of this mini-review is to provide insights on the advances in the understanding of the genetic variants associated with different manifestations of Hirschsprung disease, which may present with a range of denervation from a short segment of colon to total colonic and small bowel or extensive aganglionosis. A recent article in this journal documented potential gene variants involved i…
  • Equine fetal genotyping via aspiration of yolk-sac fluid at 22-28 days of gestation. [Journal Article]
    Theriogenology 2019; 142:34-40Ripley AM, Penedo MCT, … Hinrichs K
  • Fetal genotyping has important applications in the horse, but currently necessitates embryo recovery and biopsy. We investigated whether fetal genotyping could be performed on yolk-sac fluid recovered from pregnant mares via transvaginal aspiration. Fluid was collected before Day 30 to provide results before establishment of the endometrial cups (Day 37). Genotyping and assessment of maternal DNA…
  • Congenital pulmonary airway malformation associated with mosaic Klinefelter syndrome. [Case Reports]
    J Clin Ultrasound 2019Holubyeva A, Bracero LA, … Bush S
  • A 26-year-old female, G4 P2012 presented for an anatomy scan at 18 weeks. Multiple macrocysts were seen in the left fetal lung, which lead to a diagnosis of congenital pulmonary airway malformation (CPAM) type II. A fetal MRI examination performed at 24 weeks of gestation confirmed the diagnosis of CPAM type II. A genetic amniocentesis was done to rule out a fetal chromosomal abnormality and the …
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