Mice lacking PBX1 gene have a range of OFT malformations, including failure of cardiac septation [ 27].
About 10% of embryos from diabetic mice showed a range of cardiac malformations (Table 3).
We therefore screened a panel of patients with a range of brain malformations, resulting in the identification of three unrelated microcephalic individuals harboring de novo mutations in TUBB5 (M299V353I53I, and E401K).
Since Tc1 embryos show a range of cardiac malformations to those associated with DS, they provide a reference against which to compare the effect of more partial trisomies of Hsa21 genes or their murine counterparts.
Foetal infection with certain viruses, including bovine virus diarrhea virus (BVDV), Schmallenberg virus (SBV), blue tongue virus (BTV), Akabane virus (AKAV), or Aino virus (AV), is associated with a range of congenital malformations.
Bovine foetal infection with bovine virus diarrhea virus (BVDV), Schmallenberg virus (SBV), blue tongue virus (BTV), Akabane virus (AKAV), or Aino virus (AV), is associated with a range of congenital malformations of which the most prominent develop in the CNS, especially in the brain, with accompanying lesions frequently developing in the musculoskeletal system.
Mice with Noggin−/− mutations have a wide range of malformations including esophageal atresia and tracheo-esophageal fistula [27,43].
In the 48 72 hour group, 60% showed a similar range of malformations (Fig. 3I L) to those observed in the 24 48 hour group.
The present proof of concept study seeks to establish the feasibility of surface-based MRI morphometry to detect, in an unbiased, automated fashion, known areas of structural abnormality in individual patients with a range of epileptogenic cortical malformations.
A range of abdominal organ malformations were found at necropsy.
